Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Chiari malformation, Micrognathia, Butterfly verte... |
OMIM:265380 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Congenital malformation of the great arteries, Polydactyly, Abnormal cardiac septum morphology, A... |
ORPHA:294975 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Mes... |
ORPHA:97360 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Long philtrum, Wide nasal bridge, Atrial septal de... |
ORPHA:401935 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... |
ORPHA:2516 |
Cardioacrofacial Dysplasia 2 |
|
Conical tooth, Atrioventricular canal defect, Genu valgum, Mandibular prognathia, Deep philtrum, ... |
OMIM:619143 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Thoracic hypoplasia, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Short... |
OMIM:616897 |
Emanuel Syndrome |
|
Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Sacral dimple, Broad jaw, Ve... |
OMIM:609029 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Single umbi... |
OMIM:220210 |
Emanuel Syndrome |
|
Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Chiari malformation, Micrognathia, B... |
ORPHA:96170 |
Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Delayed eruption of teeth, Postaxial hand polydactyly, Talipes equinovarus, Hypo... |
OMIM:225500 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Renal cy... |
OMIM:231060 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Patent ductus arteriosus, Crossed fused renal ectopia, Ventricular septal defect, H... |
OMIM:618142 |
Trisomy 13 |
|
Chiari malformation, Median cleft lip, Abnormality of the ureter, Postaxial hand polydactyly, Abn... |
ORPHA:3378 |
Catel-Manzke Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Short stature, Micrognathi... |
ORPHA:1388 |
Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Camptodactyly, Pectus excavatum, Gingival overgrowth, Postnatal growth retardation,... |
OMIM:179613 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Short tibia, Micrognathia, Pulmonary hypoplasia, Short neck, Lateral clavicle ho... |
OMIM:617925 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Double outlet right ventricle, Right aortic arch, Pulmonary insufficiency, To... |
ORPHA:2326 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Clinodactyly, Short p... |
OMIM:300963 |
Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Spina bifida occulta, Pulmonary artery stenosis, Sacral dimple, Ventricular septal d... |
OMIM:301030 |
Chime Syndrome |
|
Microdontia, Hip dislocation, Cleft palate, Short palm, Ventricular septal defect, Abnormality of... |
ORPHA:3474 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Pulmonary hypoplasia, Pectus excavatum, Overlapping toe, Smooth philtrum, Cuta... |
OMIM:618316 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Camptodactyly, Overlapping toe, Smooth philtrum, Thin lower lip vermil... |
ORPHA:363444 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Encephalocele, Ventricular septal defect, ... |
OMIM:264480 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Atrioventricular canal defect, Genu valgum, Overhanging nasal tip, Short philtrum,... |
OMIM:619142 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Bilateral talipes equ... |
OMIM:306955 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Pulmonary arter... |
ORPHA:210122 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Retrognathia, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect, Bifid uvula,... |
OMIM:612938 |
Mulibrey Nanism |
|
Pericardial constriction, Hypoplastic frontal sinuses, Wide nasal bridge, Myocardial fibrosis, Th... |
OMIM:253250 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic dysplasia, Pulmonary hypoplasia, Median cleft lip, Lateral clavicle hoo... |
OMIM:263520 |
Lethal Congenital Contracture Syndrome 10 |
|
Convex nasal ridge, Micrognathia, Pulmonary hypoplasia, Short neck, Talipes equinovarus, Narrow p... |
OMIM:617022 |
Down Syndrome |
|
Atrioventricular canal defect, Pulmonary artery stenosis, Short palm, Hypoplastic iliac wing, Dou... |
OMIM:190685 |
Meier-Gorlin Syndrome 7 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Pulmonary hypoplasia, Heart block,... |
OMIM:617063 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p... |
ORPHA:261330 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenes... |
OMIM:601355 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... |
OMIM:619343 |
Trisomy 1Q |
|
Camptodactyly of finger, Polyhydramnios, Toe syndactyly, Abnormal rib morphology, Cleft palate, M... |
ORPHA:261344 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Cleft palate, Deep palmar crease, Short palm, Ventricular septal defect, Atrial septa... |
ORPHA:254346 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Polyhydramnios, Renal dysplasia, Micrognathia, Hip dislocation, Elbow di... |
ORPHA:99776 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Polyhydramnios, Renal cortical cysts, Wide nasal bridge, 2-3 finger synd... |
ORPHA:1692 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Aplasia/hypoplasia involving bones of the ... |
ORPHA:3384 |
Mucopolysaccharidosis, Type X |
|
Wide nasal bridge, Irregular acetabular roof, Beaking of vertebral bodies, Disproportionate short... |
OMIM:619698 |
Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Wide nasal bridge, Short stature, Short philtrum, Diastema, Ce... |
OMIM:617927 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... |
OMIM:134780 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Gastroesophageal reflux, Polyhydramnios, High palate, Tapered finger, Wide ... |
OMIM:620070 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Retrognathia, Abnormal metaphysis morphology, Vertebral segmentation def... |
ORPHA:2631 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Hypoplastic frontal sinuses, Microgn... |
ORPHA:90652 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, Convex nasal ridge, High palate, Wide nasal bridge, Perimembranous ventricular sept... |
OMIM:618804 |
3C Syndrome |
|
Atrioventricular canal defect, Ectopic anus, Wide nasal bridge, Micrognathia, Short neck, Cleft p... |
ORPHA:7 |
Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Abnormal cardiac septum morphology, Wide nasal bridg... |
OMIM:200990 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular sep... |
ORPHA:1166 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Truncus arteriosus, Hallux valgus, Wide nasal bridge, Toe syndactyly, Cl... |
ORPHA:2008 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Cerebellar dysplasia, Femoral retroversion, Cerebellar hypo... |
OMIM:616531 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Short stature, Cerebellar hypopl... |
OMIM:612946 |
Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Micrognathia, Pulmonary hypoplasia, Short neck, Limb undergrowth, Cleft pala... |
OMIM:256050 |
Hamamy Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Pectus excavatum, Everted lower lip vermilion, S... |
OMIM:611174 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Heart block, Abnormal vena cava morpholog... |
ORPHA:185 |
Fryns Syndrome |
|
Non-midline cleft lip, Polyhydramnios, Abnormal cardiac septum morphology, Ectopic anus, Wide nas... |
ORPHA:2059 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Mandibular prognathia, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Short pa... |
OMIM:228520 |
Pallister-Hall-Like Syndrome |
|
Short stature, Short ribs, Toe syndactyly, Micrognathia, Renal dysplasia, Hip dislocation, Pulmon... |
OMIM:241800 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Underdeveloped nasal alae, Truncus arteriosus, Short stature, Thin upper lip vermilion, Smooth ph... |
OMIM:611867 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, 2-3 toe syndactyly, Short 5th finger, Truncus arteriosus, Wide nas... |
ORPHA:508498 |
Pierre Robin Syndrome |
|
Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Pulmonary hypoplasia, Unossified vertebral bodies, Short neck, Disproportionate s... |
OMIM:200600 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Hypospadi... |
ORPHA:1919 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Eruption failure, 2-3 toe syndactyly, High palate, Long philtrum, Kyphosis,... |
ORPHA:476126 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Horizontal ribs, Short tibia, Bifid tongue, Hypoplastic facial bones, Pulmonary hypoplasia, Cleft... |
OMIM:616300 |
Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Ventricular septal defect, Short philtrum, Hypoplasia of the maxilla, Lo... |
ORPHA:96129 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid... |
ORPHA:508488 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... |
OMIM:617616 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... |
ORPHA:1330 |
Achondrogenesis Type 1B |
|
Umbilical hernia, Polyhydramnios, Hydrops fetalis, Short thorax, Long philtrum, Aplasia/Hypoplasi... |
ORPHA:93298 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Pulmonary hypoplasia, Short... |
OMIM:614091 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Pulmonary hypoplasia, Neph... |
OMIM:184260 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Rhizomelia, Short stature, Micrognathia, ... |
OMIM:614114 |
Multiple Pterygium Syndrome, X-Linked |
|
Polyhydramnios, Vertebral fusion, Cleft upper lip, Fetal akinesia sequence, Abnormal cervical cur... |
OMIM:312150 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... |
OMIM:217085 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Truncus arteriosus, Foot oligodactyly, Esophageal varix, Syndactyly, B... |
OMIM:616589 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Recurrent shoulder dislocation, Hallux valgus, Pectus excavatum, Tricuspid regurgitation, Aortic ... |
ORPHA:230851 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Coxa valga, Micrognathia, Pulmonary hypoplasia, Limb undergrowth, Ventricular sep... |
OMIM:608149 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Radial deviation of finger, Talipes equinovarus, Postnatal growth ret... |
OMIM:301040 |
Tarp Syndrome |
|
Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Pectus excavatum, Alveolar ridge overgrowt... |
ORPHA:2886 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Polyhydramnios, Thoracic dysplasia, Pulmonary hypoplasia, Median cleft lip, Shor... |
OMIM:269860 |
Mosaic Trisomy 16 |
|
Abnormal thorax morphology, Pulmonary hypoplasia, Ventricular septal defect, Atrial septal defect... |
ORPHA:1708 |
Marden-Walker Syndrome |
|
Micrognathia, Camptodactyly, Pulmonary hypoplasia, Short neck, Cleft palate, Talipes equinovarus,... |
OMIM:248700 |
Orofaciodigital Syndrome Xvii |
|
Retrognathia, Polydactyly, Prominent nose, Short stature, Short middle phalanx of the 2nd finger,... |
OMIM:617926 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Wide nasal bridge, Micrognathia, Increased placental thickness, Pulmonary hypoplasia, Clubbing of... |
ORPHA:1865 |
Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Ventricular hypertrophy, Cleft upper lip, Retrognathia, Patent ductus arteri... |
OMIM:612561 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Ventricular hypertrophy, Shoulder dislocation, Camptodactyly of finger, ... |
OMIM:143095 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Short thorax, Long philtrum, Short foot, Aplasia/Hypoplasia of t... |
ORPHA:93299 |
Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Agenesis of cerebellar vermis, Ventricular septal defect, Arrhine... |
OMIM:614815 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Bifid tongue, Thoracic hypoplasia, Renal dysplasia, Lateral clavicle hook, Cleft... |
OMIM:613091 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg... |
OMIM:311895 |
Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, 2-3 toe syndactyly, Cleft upper lip, Mandibular prognathia, Ventricula... |
OMIM:608572 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Micrognathia, Distal shortening of limbs, Pulmonary hypoplasia, Short thorax, Sho... |
ORPHA:50945 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Shoulder dislocation, Gastroesophageal reflux, Pyloric stenosis, Aortic... |
ORPHA:98892 |
Infantile Sialic Acid Storage Disease |
|
Metaphyseal irregularity, Hydrops fetalis, High palate, Nephrotic syndrome, Abnormal thorax morph... |
OMIM:269920 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Polyhydramnios, Micrognathia, Cleft palate, Aplasia/Hypoplasia of th... |
ORPHA:1052 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Micrognathia, Secundum atrial septal defect, Short neck, Smooth philtrum, Short nose, Narrow mout... |
OMIM:608779 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Pneumothorax, Ischemic stroke, Mucoid extracellular matrix accumulation, Prenatal maternal abnorm... |
ORPHA:91387 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Coxa valga, Pectus excavatum, Everted lower lip vermilion, Short neck, Gingival overgrowth, Postn... |
OMIM:212066 |
Holzgreve Syndrome |
|
Cleft upper lip, Renal agenesis, Hand polydactyly, Hypoplastic left heart, Renal hypoplasia, Clef... |
OMIM:236110 |
Coffin-Lowry Syndrome |
|
Tapered finger, Coxa valga, Lumbar kyphosis, Pectus excavatum, Everted lower lip vermilion, Broad... |
OMIM:303600 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Retrognathia, Polyhydramnios, Thickened nuchal skin fold, Convex nasal ridge, Underdeveloped nasa... |
OMIM:263210 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Short neck... |
OMIM:616894 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Atlantoaxial dislocation, Flared iliac wing, Camptodac... |
OMIM:252500 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Double outlet right ventricle, Vertebral fusion, Patent ductus arteriosus, Short t... |
OMIM:618845 |
Tonne-Kalscheuer Syndrome |
|
Convex nasal ridge, Prominent nose, Wide nasal bridge, Widely spaced teeth, Short stature, Microg... |
OMIM:300978 |
Diaphanospondylodysostosis |
|
Thoracic hypoplasia, Micrognathia, Narrow pelvis bone, Pulmonary hypoplasia, Short neck, Absent i... |
OMIM:608022 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Ventricular hypertrophy, Convex nasal ridge, Ischemic stroke, Micrognathia, Bi... |
OMIM:208050 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Thyroid lymphangiectasia, Mil... |
OMIM:235510 |
Zttk Syndrome |
|
Wide nasal bridge, Bifid uvula, Unilateral lung agenesis, Cervical ribs, Intestinal atresia, Vent... |
OMIM:617140 |
Kleefstra Syndrome 1 |
|
Gastroesophageal reflux, Mandibular prognathia, Conotruncal defect, Natal tooth, Macroglossia, Ev... |
OMIM:610253 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Polyhydramnios, Pulmonary hypoplasia, Sacral dimple, Esophageal at... |
OMIM:314390 |
Seckel Syndrome 9 |
|
Polyhydramnios, Convex nasal ridge, Ventricular septal defect, Short stature, Recurrent urinary t... |
OMIM:616777 |
Mmep Syndrome |
|
Triphalangeal thumb, Mandibular prognathia, Ventricular septal defect, Median cleft lip, Split fo... |
ORPHA:3434 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Coxa valga, Butterfly vertebrae, Abnormal left ventricular function, Postaxial ha... |
OMIM:301056 |
Intellectual Disability, Wolff Type |
|
Camptodactyly of finger, Non-midline cleft lip, Wide nasal bridge, Thick lower lip vermilion, Cli... |
ORPHA:3080 |
Turnpenny-Fry Syndrome |
|
Polyhydramnios, Tapered finger, Microdontia, Prominent nasal tip, Pectus excavatum, Overlapping t... |
OMIM:618371 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Pectus excavatum, Spina bifida occulta, Hypertrophic cardiomyopathy,... |
OMIM:151100 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Hurler Syndrome |
|
Coxa valga, Wide nasal bridge, Microdontia, Flared iliac wing, Hypoplasia of the femoral head, Sh... |
OMIM:607014 |
Autosomal Recessive Amelia |
|
Non-midline cleft lip, Polyhydramnios, Abnormal cardiac septum morphology, Aplasia/Hypoplasia of ... |
ORPHA:1027 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Enlarged thorax, Tapered finger, Wide nasal bridge, Prom... |
ORPHA:261349 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Butterfly vertebrae, Pulmonary hypoplasia, Hip dislocation, Short neck, Rudimentary... |
ORPHA:958 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... |
OMIM:217095 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Short... |
ORPHA:3426 |
Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Renal dysplasia, Toe syndactyly, Short middle phalanx of the 2nd finger, Micr... |
ORPHA:391641 |
Alg12-Cdg |
|
Polyhydramnios, Micrognathia, Camptodactyly, Biventricular hypertrophy, Talipes equinovarus, Pate... |
ORPHA:79324 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mandibular prognathia, Kyphosis, Hyperextensibility of the finger joints, M... |
OMIM:609008 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Polyhydramnios, Short thorax, Kyphosis, Hip dysplasia, Abnormality of t... |
ORPHA:2655 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Hydrops fetalis, Ventricular septal defect, Abnormal renal tubule m... |
ORPHA:1909 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Arterial stenosis, Aortic regu... |
ORPHA:79094 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Abnormal carpal morphology, Pulmonary hypoplasia, Cleft palate, Short palm, Short... |
ORPHA:85166 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Narrow chest,... |
OMIM:215045 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Hypoplastic frontal sinuses, Joint contra... |
OMIM:136760 |
Multiple Pterygium Syndrome, Lethal Type |
|
Polyhydramnios, Vertebral fusion, Fetal akinesia sequence, Abnormal cervical curvature, Depressed... |
OMIM:253290 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Genu valgum, Kyphosis, Short stature, Flared iliac wing, Flat capital femoral epip... |
OMIM:252605 |
Distal Tetrasomy 15Q |
|
Micrognathia, Camptodactyly, Pulmonary hypoplasia, Nephroblastoma, Polycystic kidney dysplasia, A... |
ORPHA:314588 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Left ventricular o... |
OMIM:613854 |
Monosomy 13Q34 |
|
Prominent nose, Prominent nasal bridge, Micrognathia, Postaxial foot polydactyly, Epistaxis, Broa... |
ORPHA:96168 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Ventricular septal def... |
OMIM:601186 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:1354 |
Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Short tibia, Absent or minimally ossified vertebral bodies, Polydactyly, Polyhyd... |
ORPHA:1505 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, 2-3 toe syndactyly, Aortic root aneurysm, Polyhydramnios, Pulmonary arterial hy... |
OMIM:620025 |
Sotos Syndrome |
|
Genu valgum, Narrow palate, Ventricular septal defect, Decreased fetal movement, Atrial septal de... |
OMIM:117550 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, 2-3 toe syndactyly, Absent thumb, Retrognathia, Patent ductus arteriosus, Truncus ... |
OMIM:617516 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Short ribs, Anencephaly, Pulmonary hypoplasia... |
OMIM:616546 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, 2-3 toe syndactyly, High palate, Wide na... |
ORPHA:3304 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Elbow dislocation, Short n... |
OMIM:210710 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the cerebellum, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Man... |
ORPHA:1908 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, ... |
OMIM:619148 |
Distal Monosomy 15Q |
|
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Pulmonary hypopl... |
ORPHA:1596 |
Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Renal dysplasia, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Mu... |
ORPHA:2538 |
Pallister-Hall Syndrome |
|
Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Hip dislocation, Distal shortening of limb... |
OMIM:146510 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Convex nasal ridge, Pericardial effusion, Micrognathia, Abnormal left ... |
ORPHA:79328 |
Meacham Syndrome |
|
Pulmonary hypoplasia, Ventricular septal defect, Enlarged kidney, Congenital alveolar dysplasia, ... |
OMIM:608978 |
Scheie Syndrome |
|
Wide nose, Genu valgum, Mandibular prognathia, Aortic regurgitation, Spondylolisthesis, Short nec... |
OMIM:607016 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Encephalocele, Depressed nasal ridge, Pericardial effusion, Enlarge... |
OMIM:613885 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, High palate, Rhizomelia, Kyphosis, Abnormality of... |
ORPHA:3098 |
Gm1 Gangliosidosis Type 1 |
|
Flattened femoral head, Flared iliac wing, Hypoplastic vertebral bodies, Gingival overgrowth, Bro... |
ORPHA:79255 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Limb undergrowth, Dysphagia, Abnormal metaphysis morphology, Gingival ov... |
ORPHA:354 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Abnormality of the bladder, Pectus excavatum, Abnormality of... |
ORPHA:2970 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Renal dysplasia, Pulmonary hypoplasia, Short neck, Cutaneous syndactyly, Tali... |
OMIM:236500 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Cleft upper lip, Short 2nd finger, Congenital lobar overinflation, Ventricula... |
OMIM:600987 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Tapered finger, Small hand, Short stature, Bicuspid aortic valve, Cervical... |
ORPHA:401923 |
Noonan Syndrome 14 |
|
Polyhydramnios, Prominent nasolabial fold, Pectus excavatum, Hypertrophic cardiomyopathy, Short n... |
OMIM:619745 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pulmonary hypoplasia, Pectus excavatum, Cleft palate, Talipes equinovarus, Ventricular septal def... |
OMIM:612530 |
Mucopolysaccharidosis, Type Vii |
|
Chronic bronchitis, Metatarsus adductus, Short neck, Narrow greater sciatic notch, Gingival overg... |
OMIM:253220 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypopl... |
OMIM:269250 |
Keutel Syndrome |
|
Wide nasal bridge, Epiphyseal stippling, Short hallux, Peripheral pulmonary artery stenosis, Vent... |
OMIM:245150 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Limb duplication, Sacral meningocele, Hand polydactyly, Hip dislocation, Cleft p... |
OMIM:223200 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Atrioventricular canal defect, Vesicoureteral reflux, Non-midline cleft lip,... |
ORPHA:2549 |
Chromosome 18Q Deletion Syndrome |
|
Ascending tubular aorta aneurysm, Toe syndactyly, Bifid uvula, Overlapping toe, Short neck, Cleft... |
OMIM:601808 |
Nemaline Myopathy 9 |
|
Polyhydramnios, Fetal akinesia sequence, High palate, Ventricular septal defect, Micrognathia, Br... |
OMIM:615731 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Epiphyseal st... |
OMIM:214100 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Micrognathia, Bifid nose, Abnormal vertebr... |
OMIM:239800 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Choanal at... |
OMIM:607323 |
Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, Micrognathia, Pulmonary hypoplasia, Spina bifida occulta, 1-2 finger synda... |
ORPHA:2437 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Abnormality of the anus, Micrognathia, Abnormal oral frenulum morphology... |
ORPHA:96167 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Abnormal lung lobation, Aortopu... |
OMIM:208530 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Wide nose, Short stature, Esophageal atresia, Fused cervical vertebrae, Renal agene... |
OMIM:619227 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Retrognathia, Fetal akinesia sequence, High palate, Hip contracture, Micrognathia, Elbow flexion ... |
OMIM:617468 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Tapered finger, Ventricular septal defect, Small hand, Wide nasal bridge, ... |
OMIM:609460 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Renal Tubular Dysgenesis |
|
Polyhydramnios, Proximal tubulopathy, Pulmonary hypoplasia, Oligohydramnios, Renotubular dysgenes... |
ORPHA:3033 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Prominent nose, Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge... |
OMIM:301022 |
Osteogenesis Imperfecta |
|
Convex nasal ridge, Thoracic hypoplasia, Delayed eruption of teeth, Micrognathia, Pulmonary hypop... |
ORPHA:666 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Short sternum, Patent foramen ovale, Retrognathia, Patent ductus arteriosus, High palate, Ventric... |
OMIM:620113 |
Orofaciodigital Syndrome Vi |
|
Renal dysplasia, Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial... |
OMIM:277170 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... |
OMIM:614980 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Conotruncal defect, Abnormal cardiac septum morphology, Hypoplasia of peni... |
ORPHA:96147 |
Tarp Syndrome |
|
Wide nasal bridge, Micrognathia, Pectus excavatum, Cleft palate, Deep palmar crease, Cutaneous sy... |
OMIM:311900 |
Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, 2-3 toe syndactyly, Polyhydramnios, Bifid tongue, Wide nasal bridg... |
ORPHA:818 |
Orofaciodigital Syndrome Type 6 |
|
Micrognathia, Abnormal oral frenulum morphology, Cleft palate, Hand polydactyly, Midline notch of... |
ORPHA:2754 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Narrow palate, Long philtrum, Pulmonary insufficiency, Thick lower lip ... |
ORPHA:555877 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Long philtrum, Ventricular septal defect, Short ribs, Hypop... |
OMIM:617895 |
Monosomy 18Q |
|
Tapered finger, Secundum atrial septal defect, Left aortic arch with right descending aorta and r... |
ORPHA:1600 |
Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Long philtrum, Abnormal cardiac septum morphology, Wide nasal... |
OMIM:615583 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Polycystic kidney dysplasia, ... |
OMIM:617866 |
Vacterl/Vater Association |
|
Non-midline cleft lip, Polyhydramnios, Abnormal cardiac septum morphology, Abnormal rib morpholog... |
ORPHA:887 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Long philtrum, Deep philtrum, T... |
ORPHA:261120 |
Alg3-Cdg |
|
High palate, Abnormal uvula morphology, Abnormality of the gastrointestinal tract, Neural tube de... |
ORPHA:79321 |
Temtamy Syndrome |
|
Convex nasal ridge, Long philtrum, Micrognathia, Aortic aneurysm, Hip dislocation, Aortic regurgi... |
OMIM:218340 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Wide nasal bridge, Patent foramen ovale, Vesicoureteral reflux, Ventricular sept... |
OMIM:157800 |
Holt-Oram Syndrome |
|
Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog... |
ORPHA:392 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Hypoplastic iliac wing, Polyhydramnios, Hydrops fetalis, Long philtrum, Short tu... |
OMIM:200610 |
Femoral-Facial Syndrome |
|
Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, Talipes equinovarus... |
ORPHA:1988 |
Greenberg Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Absent or minimally ossified vertebral bodies, Thoracic ... |
OMIM:215140 |
Atelosteogenesis Type I |
|
Polyhydramnios, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micrognathia,... |
ORPHA:1190 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Patent ductus arteriosus, Right aortic arch, Choanal stenosis, Ventricular septal d... |
OMIM:147770 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, High palate, Bicuspid aortic valve, Ascen... |
OMIM:619825 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Bifid tongue, Cleft soft palate, Bifid uvula, Abnormal oral frenulum morph... |
ORPHA:2919 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Micrognathia, Median cleft lip, Duplication of phalanx of hallux, Postaxial hand ... |
OMIM:236680 |
Thomas Syndrome |
|
Cleft upper lip, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Oligohydramnios, Hypopla... |
ORPHA:3316 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Jo... |
OMIM:244300 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Micrognat... |
ORPHA:1507 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Atrioventricular canal defect, Polydactyly, Polyhydramnios, Unbalanced at... |
OMIM:619534 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Adducted thumb, Muscular ventricular septal defect, Single transverse palmar creas... |
OMIM:620062 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Smooth philtrum, Tricuspid regurgitation, Persistent fetal circulation, Atrial septal defect, Dys... |
OMIM:612863 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Bifid distal phalanx of the thumb, High palate, Ventricular septal... |
ORPHA:2209 |
Zaki Syndrome |
|
Wide nasal bridge, Toe syndactyly, Micrognathia, Ectrodactyly, Median pseudocleft lip, Sacral dim... |
OMIM:619648 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Micrognathia, Nonimmune hydrops fetalis, Thin vermilion border, Abnormality of the amniotic fluid... |
OMIM:608540 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Ascending tubular aorta aneurysm, Left vent... |
ORPHA:3092 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Respiratory tract infection, Telangiectasia, Abnormal EKG, Abnormality of the kidney... |
ORPHA:93400 |
Fontaine Progeroid Syndrome |
|
Convex nasal ridge, Pneumothorax, Recurrent aspiration pneumonia, Microdontia, Micrognathia, Pulm... |
OMIM:612289 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect, Tapered finger, Wide nasal bridge, Micrognathia, Overlapping toe, ... |
OMIM:613792 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Hydrops fetalis, Depressed nasal ridge, Kyphosis, Dilated cardiomyopathy, Congest... |
OMIM:230500 |
8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Enlarged thorax, Tapered finger, Abnormal cardiac septum morpholog... |
ORPHA:251071 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Polyhydramnios, Truncus arteriosus, Wide nasal bridge, Micrognathia, Abnormal thorax... |
ORPHA:567 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Vertebral hypoplasia, Abnormal cardiac septum morphology, Micrognathia, Epiphyseal stippling, Pul... |
OMIM:308050 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cerebellar vermis atrophy, Micrognathia, Epiphyseal stippling, Camptodactyly, Fetal distress, Met... |
OMIM:614866 |
Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Non-midline cleft lip, Abnormal sternum morphology, Encephalocel... |
ORPHA:1335 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Patent ductus arteriosus, Preaxial hand polyd... |
ORPHA:1120 |
Raine Syndrome |
|
Thoracic hypoplasia, Microdontia, Micrognathia, Pulmonary hypoplasia, Pectus excavatum, Short nec... |
OMIM:259775 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Ascending tubular aorta aneurysm, Truncus arteriosus, Microdontia, Micrognathia, Bifid uvula, Cam... |
OMIM:612474 |
Cerebrocostomandibular Syndrome |
|
Polyhydramnios, Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, ... |
OMIM:117650 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Shoulder dislocation, Kyphosis, Adducted thumb, Aortic regurgitation, Scoliosis, Arachnodactyly, ... |
ORPHA:2181 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Preaxial hand polydactyly, Broad nasal tip, Scoliosis, Large hands, Orofacial cleft |
ORPHA:85287 |
Fryns Syndrome |
|
Polyhydramnios, Thoracic hypoplasia, Wide nasal bridge, Camptodactyly, Pulmonary hypoplasia, Shor... |
OMIM:229850 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Mitral atresia, Vesicoureteral reflux, Abnormal cardiac septum morphology, Wide nasal bridge, Toe... |
ORPHA:140952 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Short thorax, Long philtrum, Aplasia/Hypoplasia of the lungs, Mi... |
ORPHA:932 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Polyhydramnios, Thoracic hypoplasia, Ulnar deviation of the hand or of f... |
ORPHA:56304 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pul... |
ORPHA:2712 |
Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Myelomeningocele, Ventricular septal defect, Butter... |
ORPHA:2876 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, Ventricular septal defect, Recurrent respiratory infections, High... |
OMIM:174300 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Enlarged kidney, Abnormal lung lobation, Cystic renal dysplasia, Pulmonary hy... |
OMIM:615415 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Hallux valgus, Narrow nasal tip, Toe syndactyly, Pectus excavatum, Acromesomelia, Ve... |
ORPHA:464306 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pectus excavatum, Everted ... |
ORPHA:915 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Micrognathia, Pulmonary hypoplasia, Pectus excavatum, Spina bifida occul... |
ORPHA:2990 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Polyhydramnios, Renal dysplasia, Micrognathia, Bladder trabeculation, Pulmonary hypoplasia, Thin ... |
OMIM:614080 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Pulmonary hypopla... |
ORPHA:2257 |
Degcags Syndrome |
|
Polydactyly, Polyhydramnios, Abnormal renal cortex morphology, Toe syndactyly, Micrognathia, Tach... |
OMIM:619488 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pectus excavatum, Short neck, Rocker bottom foot, Patent foramen ovale, Ventricular septal defect... |
OMIM:612582 |
Diamond-Blackfan Anemia 1 |
|
Absent thumb, Micrognathia, Hypoplastic sacral vertebrae, Short neck, Cleft palate, Ventricular s... |
OMIM:105650 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Polyhydramnios, Wide nasal bridge, Micrognathia, Bifid uvula, Camptod... |
OMIM:300373 |
Diamond-Blackfan Anemia 21 |
|
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Short stature, ... |
OMIM:620072 |
Bohring-Opitz Syndrome |
|
Polyhydramnios, Tapered finger, Wide nasal bridge, Micrognathia, Camptodactyly, Overlapping toe, ... |
OMIM:605039 |
Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... |
OMIM:201000 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Polyhydramnios, Spinal dysraphism, Coxa valga, Thoracic hypoplasia, Wide nasal bridg... |
ORPHA:96334 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Convex nasal ridge, Finger joint hypermobility, Prominent nasal tip, Butterfl... |
OMIM:618870 |
Koolen-De Vries Syndrome |
|
Hip dislocation, Pectus excavatum, Everted lower lip vermilion, Slender finger, Cleft palate, Sac... |
OMIM:610443 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ... |
OMIM:618300 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Underdeveloped nasal alae, Depressed nasal ridge, Deep philtrum, Kyphosis, Wide nasal bridge, Mic... |
ORPHA:77300 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pectus excavatum, Spina bifida occulta, Everted lower lip vermilion, Short toe, Paroxysmal suprav... |
OMIM:617877 |
Hurler-Scheie Syndrome |
|
Camptodactyly of finger, Pulmonary arterial hypertension, Kyphosis, Short stature, Thick vermilio... |
OMIM:607015 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Hallux valgus, Micrognathia, Pectus exca... |
OMIM:618348 |
Boomerang Dysplasia |
|
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Hydrops fetalis, Finger syndactyly, Aplasia/Hyp... |
ORPHA:1263 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Dysphagia, Cleft palate, Patent foramen ovale, Overhanging nasal tip, Ventricula... |
OMIM:618494 |
Faciocardiomelic Syndrome |
|
Dental malocclusion, Polydactyly, Long philtrum, Wide mouth, Cuboid-shaped vertebral bodies, Slen... |
OMIM:612731 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Hypoplasia of the bladder, Chiari malformation, Abnormal cardiac septum ... |
OMIM:249000 |
Achondrogenesis Type 2 |
|
Unossified sacrum, Pierre-Robin sequence, Hypoplastic ilia, Short stature, Short ribs, Delayed ve... |
ORPHA:93296 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Hydrops fetalis, Lymphedema, Abnormal thorax morp... |
ORPHA:1318 |
Coffin-Siris Syndrome 4 |
|
Short 5th finger, Everted upper lip vermilion, Wide nasal bridge, Cleft palate, Thick nasal alae,... |
OMIM:614609 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Ventricular septal defect, Long philtrum, Natal tooth, Small hand, Microgna... |
OMIM:145420 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Tapered finger, Pectus excavatum, Short toe, Ventricular septal defect, Birth len... |
ORPHA:464311 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Long philtrum, Wide nasal bridge, Short stature, Prominent nasal bridge, Sh... |
OMIM:619179 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Ventricular septal defect, Short stature, Short ribs, Short long bone, Thoracic d... |
OMIM:615503 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Non-midline cleft lip, Short stature, Aplasia/Hypoplasia of the lungs, Radioulnar synostosis, Cli... |
ORPHA:2725 |
Down Syndrome |
|
Microdontia, Short neck, Narrow palate, Macroglossia, Short nose, Narrow mouth, Bilateral single ... |
ORPHA:870 |
Serkal Syndrome |
|
Hypoplasia of the bladder, Ventricular septal defect, Malrotation of small bowel, Renal agenesis,... |
ORPHA:139466 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Enamel hypoplasia, Multicystic kidney dysplasia, Pierre-Robin sequence, Ventricula... |
OMIM:619980 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short 5th finger, Wide nasal bridge, Everted lower lip vermilion, Cleft palate, Gingival overgrow... |
OMIM:220500 |
8P23.1 Duplication Syndrome |
|
Wide nose, Long philtrum, Ventricular septal defect, Toe syndactyly, Thick vermilion border, Tetr... |
ORPHA:251076 |
Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polydactyly, Polyhydramnios, Wide nasal bridge, Microdontia, Micrognathia, Pectu... |
OMIM:613610 |
Hunter-Macdonald Syndrome |
|
2-3 toe syndactyly, Pseudoepiphyses, Camptodactyly, Metatarsus adductus, Malar flattening, Umbili... |
OMIM:611962 |
3P25.3 Microdeletion Syndrome |
|
Tapered finger, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, Cleft palate,... |
ORPHA:435638 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
Trichohepatoenteric Syndrome 1 |
|
Polyhydramnios, Bifid uvula, Galactosuria, Renal cortical microcysts, Ventricular septal defect, ... |
OMIM:222470 |
Caudal Regression Syndrome |
|
Chiari malformation, Pulmonary hypoplasia, Hypoplastic vertebral bodies, Abnormality of the urete... |
ORPHA:3027 |
Trisomy 17P |
|
Tapered finger, Micrognathia, Short neck, Smooth philtrum, Cleft palate, Thick nasal alae, Orofac... |
ORPHA:261290 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Hand polydactyly, Atrial sept... |
OMIM:249670 |
Triploidy |
|
Meningocele, Non-midline cleft lip, Polyhydramnios, Finger syndactyly, Abnormal cardiac septum mo... |
ORPHA:3376 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pneumothorax, Pectus excavatum, Cleft palate, Talipes equinovarus, Tricuspid regurgitation, Abnor... |
OMIM:601776 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Patent ductus arteriosus, Cleft upper lip, Long philtrum, Wide mouth, Wide nasal br... |
OMIM:243310 |
Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... |
OMIM:252100 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Ventricular septal defect, Cervical ribs, Pectus excavatum, Short n... |
OMIM:609654 |
Cardiac Valvular Dysplasia, X-Linked |
|
Tricuspid regurgitation, Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitr... |
OMIM:314400 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Cleft lower lip, Cleft upper lip, Fusion of gums, Abnormal mandible morpholo... |
ORPHA:401942 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Micrognathia, Elbow flexion contra... |
OMIM:601559 |
Genitopatellar Syndrome |
|
Wide nose, Gastroesophageal reflux, Multicystic kidney dysplasia, Hip contracture, Long philtrum,... |
ORPHA:85201 |
Velocardiofacial Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Pierre-Robin sequence, Ventricular septal defect, Short ... |
OMIM:192430 |
Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
Pagod Syndrome |
|
Sudden cardiac death, Meningocele, Abnormal aortic morphology, Multicystic kidney dysplasia, Ence... |
ORPHA:991 |
Temple-Baraitser Syndrome |
|
Wide nose, Gastroesophageal reflux, Long philtrum, Wide mouth, Long hallux, Atrial septal defect,... |
OMIM:611816 |
Meckel Syndrome 14 |
|
Retrognathia, Pneumothorax, Micrognathia, Polycystic kidney dysplasia, Pulmonary hypoplasia, Micr... |
OMIM:619879 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Patent ductus arteriosus, Ventricular septal defect, Deep philtrum, Wi... |
OMIM:619717 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Bifid uvula, Pectus excavatum, Aortic dissection, Cleft palate, Dilatati... |
ORPHA:284984 |
Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Dislocate... |
OMIM:122470 |
Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Pectus excavatum, Hyperphalangy of the 2nd... |
OMIM:616145 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Long thorax, Abnormal palate ... |
ORPHA:1277 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Wrist flexion contracture, Micrognathia, Metatarsus adductus, Overlapping toe, Peripheral pulmona... |
ORPHA:436003 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Hallux valgus, Microdontia, Atlantoaxial dislocation, Micrognat... |
ORPHA:536467 |
Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Wide nasal bridge, Micrognathia, Bifid uvula, Hip dislocatio... |
OMIM:270400 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Hand clenching, Right bundle branch block, Pneumothorax, High palate, Long philtrum, Narrow naris... |
OMIM:617402 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Wide nasal bridge, Micrognathia, Butterfly vertebrae, Camptodactyly, S... |
OMIM:611209 |
Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Overlapping toe, Broa... |
OMIM:154400 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Micrognathia, Secundum atrial septal defect, Camptodactyly, Metatarsus a... |
OMIM:249420 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... |
ORPHA:93359 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Hallux valgus, Micrognathia, Elbow flexion contracture, Flat ca... |
ORPHA:536471 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Polyhydramnios, Ventricular septal defect, Chiari malformation, Spinal canal st... |
OMIM:618624 |
Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Polyhydramnios, Wide nasal bridge, Micrognathia, Median cleft lip, Fib... |
OMIM:612651 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ... |
OMIM:601927 |
Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Multicystic kidney dysplasia, Kyphosis, Abnormal cardiac septum morphology... |
ORPHA:2075 |
Developmental And Epileptic Encephalopathy 80 |
|
Triphalangeal thumb, High palate, Long philtrum, Wide mouth, Tapered finger, Increased urine alph... |
OMIM:618580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Polyhydramnios, Tapered finger, Wide nasal bridge, 2-3 toe cutaneous syndactyly, Contracture of t... |
OMIM:300998 |
Axial Mesodermal Dysplasia Spectrum |
|
Micrognathia, Abnormality of the ureter, Short neck, Abnormal intestine morphology, Abnormal rib ... |
ORPHA:1834 |
Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Thoracic hypoplasia, Severe platyspondyly, Pulmonary hypoplasia, 5-minute APGAR s... |
OMIM:187600 |
Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Wide nasal bridge, Median cleft lip, Radial deviation of finger, Alveo... |
OMIM:311200 |
Vater/Vacterl Association |
|
Renal dysplasia, Patent urachus, Abnormal rib morphology, Postnatal growth retardation, Choanal a... |
OMIM:192350 |
Ring Chromosome 22 Syndrome |
|
2-3 toe syndactyly, Lymphedema, Azoospermia, Pleural effusion, Edema, Wide nasal base, Protruding... |
ORPHA:1446 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Distal Monosomy 10P |
|
Non-midline cleft lip, Convex nasal ridge, Abnormality of the elbow, Ectopic anus, Wide nasal bri... |
ORPHA:1580 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Tapered finger, Cleft soft palate, Hallux valgus, Pectus excavatum, Dysphagia, Sacra... |
ORPHA:268261 |
Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Pneumothorax, Micrognathia, Camptodactyly, Pulmonary artery dil... |
OMIM:154700 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Hematuria, Abnormality of the pulm... |
ORPHA:90308 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Cervical ribs, Pulmonary artery sten... |
OMIM:600001 |
Charge Syndrome |
|
Polyhydramnios, Micrognathia, Secundum atrial septal defect, Dysphagia, Abnormal rib morphology, ... |
OMIM:214800 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
High palate, Short philtrum, Atrial septal defect, Single transverse palmar crease, Muscular vent... |
OMIM:618354 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Polyhydramnios, Wide nasal bridge, Micrognathia, Recurrent sinusitis, Pectus excavatum, Overlappi... |
OMIM:213980 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Long philtrum, Cerebellar hypoplasia, Short stature, Atrial septal def... |
ORPHA:75389 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Upper limb undergrowth, Hydrops fetalis, Thoracic hypoplasia, Nonimmune hydrops f... |
OMIM:613124 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Pedal edema, Right bundle branch block, Bidirectional shunt, Systolic heart... |
ORPHA:439 |
Ogden Syndrome |
|
Thick upper lip vermilion, Metatarsus valgus, Torsade de pointes, Everted upper lip vermilion, Wi... |
OMIM:300855 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Short stature, Micrognathia, Cerebellar cyst, Renal agenesis, Azoospermia, Unila... |
OMIM:601076 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Aortic root aneurysm, Coronary artery atherosclerosis, Descending aorti... |
ORPHA:229 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... |
OMIM:274000 |
Cardiac Valvular Dysplasia 1 |
|
Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aortic arch wi... |
OMIM:212093 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Wide nose, Patent foramen ovale, Double outlet right ventricle, 2-3 toe syndactyly, Ventricular s... |
ORPHA:477817 |
Esophageal Atresia |
|
Polyhydramnios, Pulmonary hypoplasia, Dysphagia, Abnormality of the urinary system, Cleft palate,... |
ORPHA:1199 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Maternal diabetes, Pulmonary artery atresia, Abnormal tricuspid valve m... |
ORPHA:1208 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Polyhydramnios, Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Pulmonary h... |
OMIM:151210 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Sacroiliac arthritis, IgA deposition in the glomerulus, Abnormality of the calcaneus, Abnormality... |
ORPHA:85438 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of fingers, Micrognat... |
ORPHA:141152 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Wide nasal bridge, Micrognathia, Abnormal lip morphology, Abn... |
ORPHA:280 |
Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, Polydactyly, High palate, Ventricular septal defect, Long philtrum, Wide mo... |
OMIM:618950 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Vesicoureteral reflux, Short stature, Slender long bone, Micrognathia, Nonimmune hy... |
OMIM:618265 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect... |
OMIM:619657 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Broad hallux, Postaxial hand polydactyly, Cleft palate, Ventricular s... |
OMIM:615948 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Short... |
OMIM:619110 |
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Micrognathia, Long nasal bridge, Muscular ventricular septal defect, Duplicated collecting system... |
OMIM:620071 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Rhizomelia, Wide nasal bridge, Narrow chest, Micrognathia, Short philt... |
ORPHA:93267 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Right aortic arch, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Ventricular septal defect, Wide nasal bridge, Hypoplastic left atrium, Micrognathia... |
OMIM:615524 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect, Glossoptosis |
OMIM:614876 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal aortic morphology, Spinal dysraphism, Ventricular ... |
ORPHA:1926 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Toe syndactyly, Micrognathia, Taurodontia, Median... |
ORPHA:2710 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Micrognathia, Short neck, Cleft palate, Postnatal growth retardation, Short sternum, Nephroblasto... |
OMIM:257300 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Short sta... |
ORPHA:1937 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Wide nasal bridge, Exaggerated median tongue furrow, 2-3 finger syndactyly, Flare... |
OMIM:312870 |
Mucolipidosis Type Ii |
|
Hip dislocation, Telangiectases of the cheeks, Gingival overgrowth, Talipes equinovarus, Postnata... |
ORPHA:576 |
Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Butterfly ... |
OMIM:200980 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Short stature, Median clef... |
OMIM:300484 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Hyperlordosis, Mandibular prognathia, Cone-shaped epiphysis, Abnormal finger morphology, Large il... |
ORPHA:2511 |
Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Ventricular septal defect, Foot polydactyly, Bifid thoracic vertebrae, Micrognat... |
ORPHA:268249 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Anterior clefting of vertebral bodies, Micrognathia, Hip dislocation, Pulmonary hypoplasia, Campt... |
OMIM:265000 |
Primary Ciliary Dyskinesia |
|
Bronchiectasis, Abnormal inferior vena cava morphology, Double outlet right ventricle, Peribronch... |
ORPHA:244 |
Roifman Syndrome |
|
Postnatal growth retardation, Short toe, Irregular vertebral endplates, Ventricular septal defect... |
OMIM:616651 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Prominent nasal bridge, Short philtrum, In... |
OMIM:614424 |
Alagille Syndrome |
|
Micrognathia, Spina bifida occulta, Abnormality of the ureter, Peripheral pulmonary artery stenos... |
ORPHA:52 |
Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short stat... |
OMIM:614326 |
Marshall-Smith Syndrome |
|
Retrognathia, Cerebellar hypoplasia, Slender long bone, Choanal atresia, Short nose, Protruding t... |
ORPHA:561 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Mandibular prognathia, High palate, Tapered finger, Everted lower lip vermilion, Single transvers... |
OMIM:617804 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Short stature, Ren... |
ORPHA:1770 |
Tetrasomy 9P |
|
Convex nasal ridge, Abnormal cardiac septum morphology, Renal dysplasia, Micrognathia, Bifid uvul... |
ORPHA:3310 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Absent or minimally ossified vertebral bodies, Hydrops fetalis, Hypoplastic ilia,... |
OMIM:600972 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Morphological abnormality of the gastrointestinal tract, Abnormal stern... |
ORPHA:2847 |
Agnathia-Otocephaly Complex |
|
Wide nose, Polyhydramnios, Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Pulmo... |
OMIM:202650 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Toe syndactyly, Micrognathia, Camptodactyly, Pulmonary hypoplasia, Short neck, Ra... |
OMIM:256520 |
20P12.3 Microdeletion Syndrome |
|
Long philtrum, Wide nasal bridge, Short stature, Wolff-Parkinson-White syndrome, Atrial septal de... |
ORPHA:261295 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Hypopl... |
ORPHA:2476 |
Even-Plus Syndrome |
|
Vertebral clefting, Patent foramen ovale, Vesicoureteral reflux, High palate, Depressed nasal rid... |
OMIM:616854 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Gastroesophageal reflux, Hydrops fetalis, Convex nasal ridge, Ventricul... |
ORPHA:79329 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Short neck, Hypoplasia of pr... |
ORPHA:2756 |
Congenital Myopathy 17 |
|
Polyhydramnios, Tapered finger, Pulmonary hypoplasia, Pectus excavatum, Overlapping toe, Smooth p... |
OMIM:618975 |
Charlie M Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Wide nasal bridge, Micrognathia, A... |
ORPHA:1406 |
9q subtelomeric deletion syndrome |
|
Protruding tongue, Abnormal heart morphology, Anteverted nares, Short nose |
DECIPHER:52 |
Hennekam Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Mild... |
ORPHA:2136 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Ectopic anus, Renal hypoplasia/aplasia, Spina bifida, Anal atresia, Ab... |
ORPHA:2345 |
Gm1-Gangliosidosis, Type Ii |
|
Patent ductus arteriosus, Coxa valga, Hypoplastic vertebral bodies, Narrow mouth, Protruding tong... |
OMIM:230600 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Viss Syndrome |
|
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Pneumothorax, Cleft soft pal... |
OMIM:619472 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Polyhydramnios, Wide nasal bridge, Toe syndactyly, Hepatoblastoma, Pectu... |
ORPHA:373 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Wide nose, Absent thumb, Convex nasal ridge, Humeroradial synostosis, Micrognathia, ... |
OMIM:251230 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Finger syndactyly, Short stature, Aplasia/Hypoplasia of the lungs, Micrognath... |
ORPHA:2145 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Symphalangism affecting the phalanges of the hand, Wide mouth, Short statu... |
ORPHA:1636 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Ventricular septal defect, Short stature, Toe syndactyly, Brachydactyly, Short t... |
ORPHA:391646 |
Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Short 5th finger, Micrognathia, Hip dislocation, Depressed nasal t... |
OMIM:300867 |
Isolated Pierre Robin Syndrome |
|
Cleft palate, Micrognathia, Glossoptosis |
ORPHA:718 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Lacticaciduria,... |
OMIM:619003 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Coxa valga, Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Tooth agene... |
OMIM:618363 |
Myhre Syndrome |
|
Abnormal cardiac septum morphology, Large iliac wing, Abnormal lip morphology, Bifid uvula, Abnor... |
ORPHA:2588 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Trisomy 4P |
|
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Short stature, Hypospadias,... |
ORPHA:1738 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Hypodontia, Microdontia,... |
OMIM:272440 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Cleft upper lip, Absent thumb, High palate, Hypoplasia of the radius, Micrognathia, Solitary medi... |
OMIM:602418 |
Carpenter Syndrome 2 |
|
Wide nasal bridge, Camptodactyly, Pectus excavatum, Short neck, Talipes equinovarus, Tricuspid re... |
OMIM:614976 |
Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, High palate, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th finger, Bro... |
OMIM:617062 |
Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia, Oligohydramn... |
ORPHA:3032 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor... |
ORPHA:289 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Peripheral pulmonary artery stenosis, Pate... |
OMIM:613177 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Mitral valve prolapse, Pectus excavatum, Aortic regurgitation, Calcaneovalgus deformity, Mitral r... |
OMIM:225320 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, High palate, Micrognathia, Short philtrum, Atrial septal defect, Brachyd... |
ORPHA:776 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Polyhydramnios, Convex nasal ridge, Wide nasal bridge, Micrognathia, Flared iliac wi... |
OMIM:180849 |
Neuraminidase Deficiency |
|
Hydrops fetalis, Short stature, Ascites, Urinary excretion of sialylated oligosaccharides, Epiphy... |
OMIM:256550 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Chronic bronchitis, Bronchiectasis, Short stature, Malabsorption, Micrognathia, Macroglossia, Sho... |
OMIM:242860 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Secundum atrial septal defect, Decre... |
OMIM:616866 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Retrognathia, Short foot, Wide mouth, Secundum atrial septal defect, Decreased fetal movement, Cl... |
OMIM:619758 |
Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Cleft upper lip, Recurrent urinary tract infections, Clinodactyly of the 5... |
OMIM:244600 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, 2-3 toe syndactyly, Cleft upper lip, Patent ductus arteriosus, Ventricular septal ... |
OMIM:106260 |
Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Chiari malformation, Narrow pelvis bone, Postaxia... |
ORPHA:3380 |
Zechi-Ceide Syndrome |
|
Underdeveloped nasal alae, Short metatarsal, Cleft upper lip, Wide nose, Wide nasal bridge, Oligo... |
OMIM:612916 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Camptodactyly, Pectus excavatum, Smooth philtrum, Aortic root aneurysm, Narrow maxilla, Ventricul... |
OMIM:617602 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Cleft upper lip, Mandibular prognathia, Tapered finger, Wide nasal bridge, Aganglionic... |
OMIM:239300 |
Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Polyhydramnios, Fetal akinesia sequence, Micrognathia, Pulmonary hypopla... |
ORPHA:994 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Abnormal metaphysis morphology, Aplasia/Hypoplasia of the lung... |
ORPHA:2635 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Convex nasal ridge, Coxa valga, Left ventricular diastolic dysfunction, ... |
ORPHA:740 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Spre... |
OMIM:214300 |
Juvenile Sialidosis Type 2 |
|
Umbilical hernia, Abnormality of the kidney, Protruding tongue, Abnormal heart morphology, Abnorm... |
ORPHA:93399 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, High palate, Long philtrum, Wide nasal bridge, Cerebellar hypopl... |
ORPHA:3309 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Arachnodactyly, IgA deposition in the glomerulus, High palate, Ventricular... |
OMIM:616730 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Patent ductus arteriosus, Radial club hand, Short 5th finger, Hypoplasia of the radi... |
ORPHA:1972 |
Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Elbow dislocation, Spina bifida occulta, Pectus excavatum, Bip... |
OMIM:150250 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle, Wide nose, High palate, Ventricular septal d... |
OMIM:616652 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Abnormality of the philtrum, Patent ductus arteriosus, High palate, Mids... |
ORPHA:2863 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Abnormal P wave, Third heart sound,... |
ORPHA:1329 |
Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Hydrops fetalis, Short stature, Aplasia/Hypoplasia of the lungs, Limb undergrowth... |
ORPHA:2204 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, High palate, Conotruncal defe... |
ORPHA:40366 |
Smith-Magenis Syndrome |
|
Wide nasal bridge, Toe syndactyly, Micrognathia, Taurodontia, Abnormality of the ureter, Cleft pa... |
ORPHA:819 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Pulmonary hemorrhage, Clinodactyly, Short philtrum, Aortic regurgitation, Proteinuria |
OMIM:603585 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Clinodactyly of the 5th finger, Brachydactyly, Thin vermilion border, ... |
ORPHA:3303 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Ventricular septal defect, Foot oligodactyly, Bilateral cleft lip, Anterior ence... |
OMIM:601357 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Short stature, Clinodactyly of the 5th finger, Dilated cardiomyopathy,... |
ORPHA:2515 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner... |
ORPHA:94066 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short stature, Stage 5 chronic kidney disease, Hypoplasia of the radius, Anal atres... |
OMIM:613390 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Prominent nasal tip, Broad distal phalanx of the toes, Everted lower lip verm... |
ORPHA:464738 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Pulmonary artery stenosis, Talipes equino... |
ORPHA:261494 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Tapered finger, Hallux valgus, Dilation of Virchow-Robin spaces, Short lower limbs... |
ORPHA:261311 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia, Abnormal... |
ORPHA:99050 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
High palate, Small hand, Mitral valve prolapse, Abnormal heart valve morphology, Clinodactyly of ... |
ORPHA:2868 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Wide nasal bridge, Micrognathia, Bifid uvula, Abnormal oral frenulum morpholo... |
ORPHA:404440 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Palmoplantar cutis laxa, Finger joint hypermobility, Abnormal cerebral vascular m... |
ORPHA:363705 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Clinodactyly of... |
ORPHA:2001 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Pulmonary hypoplasia, Abnormal oral frenulum ... |
ORPHA:2753 |
Opitz-Kaveggia Syndrome |
|
Micrognathia, Camptodactyly, Broad hallux, Short neck, Radial deviation of finger, Cleft palate, ... |
OMIM:305450 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Vesicoureteral reflux, Mandibular prognathia, Ventricular septal defect, Wide mouth, Recurrent ur... |
OMIM:619103 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Short stature,... |
OMIM:614261 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum... |
OMIM:608227 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Pectus excavatum, Smooth philtrum, Slender finger, Patent foramen ovale, Ventricular septal defec... |
ORPHA:329224 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Polyhydramnios, Abnormality of the elbow, Short stature, Slender long bone, Micrognathia, Pulmona... |
ORPHA:1486 |
Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Hypospadi... |
ORPHA:1913 |
X-Linked Intellectual Disability, Nascimento Type |
|
Overlapping toe, Abnormal vena cava morphology, Peripheral pulmonary artery stenosis, Bilateral t... |
ORPHA:163956 |
Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronc... |
ORPHA:980 |
Transaldolase Deficiency |
|
Hydrops fetalis, Telangiectasia, Abnormality of the kidney, Atrial septal defect, Coarctation of ... |
ORPHA:101028 |
Congenital Disorder Of Glycosylation, Type Il |
|
Long philtrum, Kyphosis, Abnormal cardiac septum morphology, Pericardial effusion, Wide mouth, Po... |
OMIM:608776 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Ventricular septal defect, Villous atrophy, Wide nasal bridge, Short st... |
ORPHA:84064 |
Craniofacial Microsomia |
|
Vertebral hypoplasia, Chiari malformation, Micrognathia, Pulmonary hypoplasia, Cervical ribs, Cle... |
OMIM:164210 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Chiari malformation, Hypoplastic inferior ilia, Cortical thickening of long bone ... |
ORPHA:309282 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Gastroesophageal reflux, Pulmonary arterial hypertension, High ... |
OMIM:616449 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Short stature, Short ribs, Short long bone, Irregular carpal bones, Carpal... |
OMIM:252600 |
9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Vertebral segmentation defect, Hip dysplasia, Wide nasal ridge, Downturned corners o... |
ORPHA:531151 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Wide nasal bridge, Pectus excavatum, Short neck, Radial deviation of finger, Cu... |
OMIM:305400 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morphology, Depress... |
ORPHA:83473 |
Whistling Face Syndrome, Recessive Form |
|
Underdeveloped nasal alae, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, C... |
OMIM:277720 |
Thrombocytopenia-Absent Radius Syndrome |
|
Coxa valga, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Cervical ribs, Pho... |
ORPHA:3320 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Renal dysplasia, Micrognathia, Bifid uvula, Metatarsus adductus, Pectus ... |
ORPHA:2461 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Ventricular septal defect, Abnormal ... |
ORPHA:3405 |
Sonoda Syndrome |
|
Ventricular septal defect, Short stature, High axial triradius, Depressed nasal bridge, Narrow mouth |
OMIM:270460 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Hip subluxation, Tapered finger, Cleft soft palate, Ischemic stroke,... |
OMIM:619503 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Hypodontia, Micrognathia, Renal agenesis, Radioulnar... |
OMIM:212780 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Thoracic hypoplasia, Wide nasal bridge, Short long bone, Micrognathia, Single umbilical artery, A... |
OMIM:224410 |
Juberg-Hayward Syndrome |
|
Abnormality of the radial head, Cleft upper lip, Aplasia/Hypoplasia of the thumb, Abnormal carpal... |
OMIM:216100 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Short long bone, Cervical kyphosis, Short finger, Ulnar deviation o... |
OMIM:222600 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Recurrent respiratory infections, Short stature, Renal dysplasia, Stage 5 chronic ki... |
OMIM:615993 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tapered finger, Recurrent aspiration pneumonia, Hypertrophy of the urinary bladder, Short neck, P... |
ORPHA:280633 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... |
ORPHA:2092 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Yunis-Varon Syndrome |
|
Short 2nd finger, Absent thumb, Polyhydramnios, Tapered finger, Tapered toe, Toe syndactyly, Micr... |
OMIM:216340 |
Ogden Syndrome |
|
Underdeveloped nasal alae, Enlarged naris, Everted upper lip vermilion, Ventricular septal defect... |
ORPHA:276432 |
Cohen Syndrome |
|
Tapered finger, Micrognathia, Pectus excavatum, Tooth agenesis, Gingival overgrowth, Genu valgum,... |
ORPHA:193 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Preaxial hand polydactyly, Long philtrum, Short stature, Pear-shaped nose, Thin upper lip vermili... |
OMIM:606242 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Wide nasal bridge, Cardiac rhabdomyoma, Short dis... |
OMIM:109400 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Long philtrum, Kyphosis, Wide nasal bridge, Micrognathia, Thin uppe... |
OMIM:615761 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, Pectus excavatum, Hypoplasia of the ulna, Short nose, Hypercalciuria,... |
OMIM:615398 |
Fetal Parvovirus Syndrome |
|
Hydrops fetalis, Hypertrophic cardiomyopathy, Ascites, Increased nuchal translucency, Intrauterin... |
ORPHA:295 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Prominent nose, Radioulnar synostosis, Pectus excavatum, Abnormal p... |
ORPHA:3270 |
Hyperlysinemia |
|
Gastroesophageal reflux, Hyperlysinuria, High palate, Depressed nasal ridge, Short stature, Cysti... |
ORPHA:2203 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Left ventricular hypertrophy, Hypertension, Pulmonary hypoplasia, Oligohydramnio... |
OMIM:616733 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Bifid tongue, Ectopic anus, Micrognathia, Urethrov... |
ORPHA:93271 |
Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect, Glossoptosis, Bilateral lung agenesis, Bi... |
OMIM:618021 |
Restrictive Dermopathy 1 |
|
Polyhydramnios, Convex nasal ridge, Micrognathia, Pulmonary hypoplasia, Rocker bottom foot, Choan... |
OMIM:275210 |
Developmental And Epileptic Encephalopathy 18 |
|
Aortic regurgitation, Polyhydramnios, Atrial septal defect, Oligohydramnios |
OMIM:615476 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Thoracic hypoplasia, Microdontia, Micrognathia, Elbow flexion contracture, Fetal ... |
OMIM:300868 |
Aortic Arch Interruption |
|
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Aortopulmonary wi... |
ORPHA:2299 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... |
ORPHA:457395 |
Doors Syndrome |
|
Polyhydramnios, Short 5th finger, Wide nasal bridge, Short lingual frenulum, Spina bifida occulta... |
ORPHA:79500 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Atrioventricular canal defect, Polyhydramnios, Median cleft lip, Postaxial hand ... |
OMIM:617088 |
Chromosome 9P Deletion Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th toe, Short neck, Thin ve... |
OMIM:158170 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Gastroesophageal reflux, Polyhydramnios, Multicystic kidney dysplasia, High palate, Tapered finge... |
OMIM:618829 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Finger syndactyly, Aplasia/Hypoplasia of the lungs, Micrognathia, Abnormal... |
ORPHA:3429 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pulmonary arterial hypertension, Hyperlordosis, Gastroesophageal reflux, Cerebral edema, Reduced ... |
ORPHA:258 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal ridge, Micrognathia, Interrupted aortic arc... |
ORPHA:1727 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Polyhydramnios, Convex nasal ridge, Chiari malformation, Micrognathia, Broad hallux,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Polyhydramnios, Convex nasal ridge, Chiari malformation, Micrognathia, Broad hallux,... |
ORPHA:353277 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Short nose, Delayed erupti... |
OMIM:618506 |
Mucolipidosis Type Iii |
|
Hyperlordosis, Short stature, Large iliac wing, Hypoplastic inferior ilia, Abnormal aortic valve ... |
ORPHA:577 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide nasal bridge, Micrognathia, 2-3 toe cutaneous syndactyly, Smooth philtrum, Cleft palate, Pat... |
OMIM:618454 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Short stature, ... |
OMIM:156510 |
Cat Eye Syndrome |
|
Micrognathia, Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular septal defect, Atr... |
OMIM:115470 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Micrognathia, Abnormal thorax morphology, Camptodactyly, Pulmonary hyp... |
ORPHA:798 |
Cutis Laxa, Autosomal Dominant 3 |
|
Hip dislocation, Unilateral renal agenesis, Adducted thumb, Aortic regurgitation, Intrauterine gr... |
OMIM:616603 |
Orofaciodigital Syndrome Type 1 |
|
Lip pit, Wide nasal bridge, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Odontogen... |
ORPHA:2750 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Broad alveolar... |
OMIM:164200 |
D-2-Hydroxyglutaric Aciduria 1 |
|
D-2-hydroxyglutaric aciduria, Micrognathia, Aortic regurgitation, Glutaric aciduria, Cardiomyopathy |
OMIM:600721 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Gastroesophageal reflux, Multicystic kidney dysplasia, Micrognathia, Pyloric stenosis, Abnormal a... |
ORPHA:261197 |
Congenital Tracheomalacia |
|
Pneumothorax, Bronchiectasis, Pulmonary hypoplasia, Pneumonia, Ventricular septal defect, Esophag... |
ORPHA:95430 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Right atrial isomerism, Double o... |
OMIM:270100 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Kyphosis, Vascular ring, Atrial septal defect, Mitral regurgitation, T... |
OMIM:603387 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Hyposmia, Atrial septal defect, Hypoplastic ... |
OMIM:615996 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Retrognathia, Ventricular hypertrophy, Wide nose, Prominent nose, Hallux valgus, Kyphosis, Limite... |
OMIM:300280 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Convex nasal ridge, Chiari malformation, Broad hallux, Abnormality of the urinary system, Pneumon... |
ORPHA:353281 |
Coffin-Siris Syndrome 5 |
|
Wide nose, Wide mouth, Cerebellar hypoplasia, Thick lower lip vermilion, Short stature, Short phi... |
OMIM:616938 |
Cornelia De Lange Syndrome 2 |
|
Gastroesophageal reflux, High palate, Small hand, Limited elbow movement, Short stature, Microgna... |
OMIM:300590 |
Contractural Arachnodactyly, Congenital |
|
Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus add... |
OMIM:121050 |
Mckusick-Kaufman Syndrome |
|
Ectopic anus, Urethral stricture, Postaxial hand polydactyly, Cleft palate, Multicystic kidney dy... |
ORPHA:2473 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Abnormality of the upper limb, Encephalocele, Absent toe, Finger... |
ORPHA:974 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... |
OMIM:620067 |
Omodysplasia 2 |
|
Wide nasal bridge, Micrognathia, Dislocated radial head, Hypoplastic distal humeri, Limited elbow... |
OMIM:164745 |
Meckel Syndrome, Type 4 |
|
Meningocele, Agenesis of cerebellar vermis, Ventricular septal defect, Encephalocele, Anencephaly... |
OMIM:611134 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Retrognathia, Polyhydramnios, High palate, Kyphosis, Wide nasal bridge, Microgn... |
OMIM:618393 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hy... |
OMIM:618815 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Cleft palate, Short palm, Postnatal growth retardation, Patent foramen ovale, Atrial septal defec... |
OMIM:619184 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Gastroesophageal reflux, Hydrops fetalis, Chylopericardium, Cong... |
ORPHA:2414 |
Coffin-Siris Syndrome 6 |
|
Retrognathia, Gastroesophageal reflux, Deep philtrum, Short stature, Micrognathia, Clinodactyly, ... |
OMIM:617808 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Ventricular septal defect, Joint c... |
OMIM:113000 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Bifid uvula, Clinodactyly of the 5th toe, Overlapping toe, ... |
ORPHA:264450 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Micrognathia, Pectus excavatum, Dysphagia,... |
OMIM:617061 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Ascending tubular aorta aneurysm, Wide nasal bridge, Bifid uvula, ... |
ORPHA:453499 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Pulmonary hypoplasia, Lower limb undergrowth, Intestinal malrotation... |
ORPHA:3035 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Micrognathia, Hypoplasia of penis, Congestive heart failure, Abnormal... |
ORPHA:2022 |
Craniofacioskeletal Syndrome |
|
Hypoplastic frontal sinuses, Micrognathia, Cleft palate, Short palm, Choanal atresia, Ventricular... |
OMIM:300712 |
Timothy Syndrome |
|
Bronchitis, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect, Microdonti... |
OMIM:601005 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy, Short thorax, Short stature, Clinodactyly, Camp... |
ORPHA:88630 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... |
OMIM:616501 |
Zechi-Ceide Syndrome |
|
Wide nose, Short metatarsal, Mandibular prognathia, Wide nasal bridge, Oligodontia, Short philtru... |
ORPHA:217017 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Deep philtrum, Short stature, Thick lower lip vermilion, Short nose, Pe... |
ORPHA:2701 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Ventricular septal defect, Short stature, S... |
OMIM:615630 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Desquamation of skin soon after birth, Thoracic hypoplasia, Everted upper lip ver... |
OMIM:608013 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Severe platyspondyly, Short neck, Vascular dilatation, Short ribs, Hypoplastic ischia, Short nose... |
OMIM:613320 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Deep philtrum, Bilateral cleft lip, Cerebellar hypoplasia, Birth length le... |
OMIM:618622 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect, Widely spaced teeth, Microdontia, Premature loss of primary teeth,... |
OMIM:617364 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Wide nasal bridge, Bifid uvula, Scoliosis, Anteverted nares, Dysplastic pulmonar... |
OMIM:300958 |
Chromosome 15Q25 Deletion Syndrome |
|
Dilatation of renal calices, Cleft upper lip, Ventricular septal defect, Abnormal cardiac septum ... |
OMIM:614294 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Cone-shaped epiphysis, Short stature, Aplasia/Hypoplas... |
ORPHA:474 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Wide nasal bridge, Camptodactyly, Talipes equinovarus, Retrocerebellar cyst, Aplasia/Hypoplasia o... |
ORPHA:397709 |
Abruzzo-Erickson Syndrome |
|
Short toe, Short stature, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atria... |
ORPHA:921 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Tapered finger, Wide nasal bridge, Renal dysplasia, Bifid uvula, Hip dislocation, Smooth philtrum... |
OMIM:300968 |
C Syndrome |
|
Renal cortical cysts, Wide nasal bridge, Toe syndactyly, Micrognathia, Hip dislocation, Dislocate... |
OMIM:211750 |
Mucopolysaccharidosis, Type Ivb |
|
Chondroitin sulfate excretion in urine, Pointed proximal second through fifth metacarpals, Coxa v... |
OMIM:253010 |
Developmental And Epileptic Encephalopathy 100 |
|
Enamel hypoplasia, Bilateral camptodactyly, Gastroesophageal reflux, High palate, Small hand, Mic... |
OMIM:619777 |
Wrinkly Skin Syndrome |
|
Palmoplantar cutis laxa, Wide nasal bridge, Delayed eruption of teeth, Microdontia, Pectus excava... |
OMIM:278250 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Thoracic hypoplasia, Ulnar de... |
OMIM:208150 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Polyhydramnios, Ascending tubular aorta aneurysm, Microcolon, Micrognath... |
ORPHA:1662 |
Autosomal Dominant Cutis Laxa |
|
Bronchiectasis, Hip dislocation, Peripheral pulmonary artery stenosis, Talipes equinovarus, Postn... |
ORPHA:90348 |
Loeys-Dietz Syndrome 2 |
|
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Chiari malformation, Micrognathia, Bifid ... |
OMIM:610168 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Atrioventricular canal defect, Broad first metatarsal, Bifid tongue, Wide nasal brid... |
ORPHA:2751 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Narrow palate, Kyphosis, Short stature, ... |
OMIM:618223 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Pulmonary hypoplasia, Hyper... |
OMIM:614096 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Micrognathia, Cardiac arrest, Metatarsus add... |
OMIM:212720 |
Blackfan-Diamond Anemia |
|
Absent thumb, Cleft soft palate, Wide nasal bridge, Micrognathia, Nonimmune hydrops fetalis, Shor... |
ORPHA:124 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Gastroesophageal reflux, Genu valgum, Mandibular prognathia, Tapered finger, Long philtrum, Short... |
OMIM:619721 |
Phocomelia, Schinzel Type |
|
Meningocele, Humeroradial synostosis, Micrognathia, Short neck, Cleft palate, Ectrodactyly, Aplas... |
ORPHA:2879 |
Coffin-Lowry Syndrome |
|
Tapered finger, Delayed eruption of teeth, Pectus excavatum, Everted lower lip vermilion, Pseudoe... |
ORPHA:192 |
Holoprosencephaly |
|
Spinal dysraphism, Median cleft lip, Short neck, Tooth agenesis, Depressed nasal tip, Abnormality... |
ORPHA:2162 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short 5th finger, Toe syndactyly, Microdontia, Micrognathia, Short neck, Smooth philtrum, Cleft p... |
OMIM:610759 |
Peters Plus Syndrome |
|
Polyhydramnios, Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Abnormality of ... |
ORPHA:709 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Restrictive cardiomyopathy, Wide nasal bridge, Renal dysplasia, Micrognathia, Pectus excavatum, A... |
ORPHA:369837 |
Weill-Marchesani Syndrome 1 |
|
Proportionate short stature, Lumbar hyperlordosis, Broad phalanges of the hand, Narrow palate, Ve... |
OMIM:277600 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hyperlordosis, High palate, Short stature, Micrognathia, Short philtrum, Ulnar deviation of finge... |
ORPHA:1387 |
Meckel Syndrome, Type 10 |
|
Sacral dimple, Dilated fourth ventricle, Ulnar deviation of the hand, Cerebellar hypoplasia, Anen... |
OMIM:614175 |
Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Cerebellar hypoplasia, Wide nasal bridge, Micrognathia, Cerebellar v... |
OMIM:243605 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Spina bifida ... |
ORPHA:1452 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-3 toe cutaneous synda... |
OMIM:300166 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Underdeveloped nasal alae, Hallux valgus, Ventricular septal defect, Short metacarpal, Heart murm... |
ORPHA:166035 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... |
DECIPHER:46 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Myelomeningocele, M... |
ORPHA:66637 |
Wolf-Hirschhorn Syndrome |
|
Convex nasal ridge, Wide nasal bridge, Micrognathia, Hip dislocation, Metatarsus adductus, Short ... |
OMIM:194190 |
Coffin-Siris Syndrome 7 |
|
Polyhydramnios, Convex nasal ridge, Microdontia, Pectus excavatum, Thick nasal alae, Patent foram... |
OMIM:618027 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... |
ORPHA:1248 |
Khan-Khan-Katsanis Syndrome |
|
Bilateral superior vena cava with no bridging vein, Micrognathia, Dysphagia, Tricuspid regurgitat... |
OMIM:618460 |
Codas Syndrome |
|
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Short stature, Hydrourete... |
ORPHA:1458 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Abnormal hand morphology, Ventricular septal defect, Broad clavicl... |
ORPHA:371428 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Short stature, Olig... |
OMIM:618330 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Long philtrum, Short stature, Atrial se... |
OMIM:300887 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Toe syndactyly, Spina bifida occulta, Peripheral pulmonary artery sten... |
OMIM:300707 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Depressed nasal ridge, Aplasia/Hypoplasia of the lungs, Micrognathia, Renal hypop... |
ORPHA:1046 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra... |
OMIM:102500 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Decreased fetal movement, Pulmona... |
OMIM:616867 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Micrognathia, Choanal atresia, Sacral dimple, Prominent nose... |
ORPHA:93932 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Polyhydramnios, Abnormal sternum morphology, High palate, Ventricular septal defect, Short statur... |
OMIM:607721 |
Achondroplasia |
|
Polyhydramnios, Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Thora... |
OMIM:100800 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Patellar hypoplasia, Long philtrum, Ventricular s... |
OMIM:619189 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly... |
OMIM:605967 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia, Proximal tubulopathy, Patent ductus arteriosus, Peau d'orange, V... |
OMIM:614576 |
3Mc Syndrome 1 |
|
Sacral dimple, Patent ductus arteriosus, Cleft upper lip, Short 5th finger, Ventricular septal de... |
OMIM:257920 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Wide nasal bridge, Micrognathia, Pectus excavatum, Dislocated radial head, Short ne... |
OMIM:268310 |
Joubert Syndrome 1 |
|
Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar vermis, Clinodactyly, Macrog... |
OMIM:213300 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, High palate, Ectopic anus, Wide mouth, Wide nasal bridge, Micrognathia, ... |
ORPHA:1703 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Gastroesophageal reflux, Pierre-Robin sequence, High palate, Wide nasal bridge, Short stature, Mi... |
OMIM:613604 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Short stature, Vertebral segmentation defect, Microdontia, Micrognathia, A... |
ORPHA:1915 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Clubbing, Coarctation of ao... |
OMIM:600460 |
Stickler Syndrome Type 1 |
|
Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla, Platyspondyly, Cleft... |
ORPHA:90653 |
Noonan Syndrome 2 |
|
Atrioventricular canal defect, Polyhydramnios, Palmoplantar cutis laxa, Micrognathia, Pectus exca... |
OMIM:605275 |
Diamond-Blackfan Anemia 7 |
|
Triphalangeal thumb, Vesicoureteral reflux, Patent ductus arteriosus, Polyhydramnios, Ventricular... |
OMIM:612562 |
Bone Dysplasia, Lethal Holmgren Type |
|
Patent ductus arteriosus, Metaphyseal dysplasia, Bell-shaped thorax, Rhizomelia, Abnormality of t... |
ORPHA:1842 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Polydactyly, Renal insufficiency |
OMIM:615987 |
Cohen Syndrome |
|
Convex nasal ridge, Tapered finger, Micrognathia, Lumbar hyperlordosis, Genu valgum, Delayed pube... |
OMIM:216550 |
Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Wide nasal bridge, Toe syndactyly, Hip dislocation, Broad ... |
ORPHA:2308 |
Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Convex nasal ridge, Pneumothorax, Humeroradial synostosis, Microgn... |
ORPHA:3404 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Short 5th finger, Long philtrum, Hyperextensibility of the finger joints, S... |
OMIM:618821 |
Lowry-Maclean Syndrome |
|
Midgut malrotation, Atrioventricular canal defect, Talon cusp, Retrognathia, Convex nasal ridge, ... |
ORPHA:2409 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Genu varum, Mandibular prognathia, Convex nasal ridge, Arteriovenous malformation, Abnormal aorti... |
ORPHA:1110 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Convex nasal ridge, Pulmonary insufficiency, Thoracic hy... |
OMIM:166210 |
X-Linked Intellectual Disability, Abidi Type |
|
Non-midline cleft lip, Short stature, Pectus excavatum, Scoliosis, Cleft palate, Prominent nasal ... |
ORPHA:85273 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Long philtrum, Micrognathia, Abnormal metacarpal morphology, Pectus excavatum, Cleft palate, Mala... |
ORPHA:166100 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement, Edema, Portal hypertension, Esophageal... |
OMIM:232500 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Microretrognathia, Hypospadias, Abnormal clavicle morphology, Abnorm... |
ORPHA:276422 |
Leukocyte Adhesion Deficiency Type Ii |
|
Wide nasal bridge, Overlapping toe, Limb undergrowth, Gingival overgrowth, Narrow palate, Severe ... |
ORPHA:99843 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Vesicoureteral reflux, Wide nasal bridge, Aganglionic megacolon, Shortening of all distal phalang... |
OMIM:614749 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Bilateral lung agenesis, Renal agenesis, Pu... |
OMIM:611812 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Kyphosis, S... |
OMIM:169400 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Decreased palmar creases, Kyphosis, Joint contracture of the hand, Wide nasal bridg... |
ORPHA:352490 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm, High palate, Ventricular septal defect, Deep philtrum, Hyperext... |
OMIM:309520 |
Polyvalvular Heart Disease Syndrome |
|
High palate, Prominent nose, Short stature, Micrognathia, Mitral valve prolapse, Abnormal heart v... |
ORPHA:228410 |
Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Chiari malformation, Wide nasal bridge, Micrognathia, Short neck, C... |
ORPHA:955 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Polyhydramnios, Thoracic hypoplasia, Ulnar deviation of the hand or of f... |
OMIM:602613 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Short stature, Talipes equinovarus, Oligodactyly, Metatarsus adductus, ... |
OMIM:613005 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Cleft upper lip, Wide nasal bridge, Inferior cerebellar vermis hypoplasia, Short philtrum, Downtu... |
OMIM:613192 |
Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Polydactyly, Polyhydramnios, Recurrent aspiration pneumonia, Delayed e... |
OMIM:247200 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Kyphosis, Micrognathia, Camptodactyly, ... |
OMIM:619123 |
Kury-Isidor Syndrome |
|
Sacral dimple, High palate, Ventricular septal defect, Long philtrum, Widely spaced teeth, Finger... |
OMIM:619762 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gastroesophageal reflux, Ventricular septal defect, Everted upper lip vermilion, Widely spaced te... |
ORPHA:513456 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Polyhydramnios, Aplasia/Hypoplasia of the fibula, Ventricular septal defect, Finger syndactyly, S... |
ORPHA:2256 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Kyphosis, Lymphedema, Micro... |
OMIM:153400 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Long philtrum, Ventricular septal defect, Wide na... |
ORPHA:228399 |
16P13.11 Microdeletion Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Cleft upper lip, Gastroesophageal reflux, Ventricular... |
ORPHA:261236 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, 2-3 toe syndactyly, Torsade de pointes, Wide nasal bridge, M... |
ORPHA:37553 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
German Syndrome |
|
Camptodactyly of finger, High palate, Abnormal cardiac septum morphology, Lymphedema, Wide nasal ... |
ORPHA:2077 |
Postaxial Acrofacial Dysostosis |
|
Conical tooth, Midgut malrotation, Supernumerary vertebrae, Cleft upper lip, Hypoplasia of the ra... |
OMIM:263750 |
Apert Syndrome |
|
Ectopic anus, Delayed eruption of teeth, Humeroradial synostosis, Bifid uvula, Postaxial hand pol... |
OMIM:101200 |
Polysyndactyly With Cardiac Malformation |
|
Polyhydramnios, Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Renal... |
OMIM:263630 |
Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Polyhydramnios, Micrognathia, Bifid uvula, Short neck, Limb undergrowth,... |
ORPHA:1427 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Protruding tongue, Smooth philtrum, Open mouth |
OMIM:618732 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Hypotension, Micrognathia, Prominent nasal tip, Caudal interpedicular na... |
ORPHA:439822 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Decreased fetal movement, Atrial septal defect, Tongue fasciculations,... |
OMIM:253300 |
Loeys-Dietz Syndrome 1 |
|
Chiari malformation, Micrognathia, Bifid uvula, Camptodactyly, Ascending aortic dissection, Bicus... |
OMIM:609192 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Meningocele, Spina bifida occulta, Abnormality of the ureter, Short neck... |
ORPHA:2311 |
Distal Monosomy 12Q |
|
2-3 toe syndactyly, Micrognathia, Elbow flexion contracture, Median cleft lip, Overlapping toe, B... |
ORPHA:96149 |
Arterial Tortuosity Syndrome |
|
Coxa valga, Abnormal carotid artery morphology, Cardiac arrest, Hip dislocation, Hypertrophic car... |
ORPHA:3342 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Depressed nasal bridge, ... |
ORPHA:1918 |
Acromicric Dysplasia |
|
Short phalanx of finger, Long philtrum, Deep philtrum, Short foot, Thick lower lip vermilion, Sho... |
OMIM:102370 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Hand clenching, Polyhydramnios, Ventricular sep... |
OMIM:616920 |
Lethal Kniest-Like Dysplasia |
|
Polyhydramnios, Anterior rib cupping, Abnormality of the ischium, Hypoplastic ilia, Short ribs, M... |
ORPHA:2347 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Wide nasal bridge, Thyroid lymphangiectasia, Micrognathia, Short neck, Alveolar r... |
OMIM:235255 |
Loeys-Dietz Syndrome 5 |
|
Cleft soft palate, Bifid uvula, Ascending aortic dissection, Pectus excavatum, Smooth philtrum, C... |
OMIM:615582 |
Distal Monosomy 10Q |
|
Tapered finger, Wide nasal bridge, Micrognathia, Hip dislocation, Pectus excavatum, Spina bifida ... |
ORPHA:96148 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Smooth philtrum, Furrowed tongue, Lumbar hyperlordosis, Choanal atresia, Patent for... |
OMIM:616975 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Polyhydramnios, Aplasia/Hypoplasia of the tongue, Wide nasal bridge,... |
ORPHA:2759 |
Cog7-Cdg |
|
Retrognathia, Abnormal finger morphology, Micrognathia, Abnormality of the kidney, Adducted thumb... |
ORPHA:79333 |
Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Microdontia, Dislocated radial head, Celiac disease, Short n... |
ORPHA:2044 |
Opitz Gbbb Syndrome |
|
Wide nasal bridge, Congenital posterior urethral valve, Smooth philtrum, Dysphagia, Cleft palate,... |
OMIM:300000 |
Antisynthetase Syndrome |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Recurrent respirator... |
ORPHA:81 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short phalanx of finger, Thoracic dysplasia, Pulmonary hypoplasia, Early ossific... |
OMIM:208500 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Wide nasal bridge, Toe syndactyly, Aplasia/hypoplasia of the femur, Flar... |
OMIM:609945 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Polyhydramnios, Hydrops fetalis, High palate, Decreased fetal movement, Pulmonary hypoplasia, Sco... |
OMIM:255320 |
Hydrops Fetalis |
|
Polyhydramnios, Abnormality of the gastrointestinal tract, Pericardial effusion, Lymphedema, Incr... |
ORPHA:1041 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly, Abnormality of the... |
OMIM:615982 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Abnormal cardiac septum morphology, ... |
ORPHA:2484 |
Ververi-Brady Syndrome |
|
Wide nose, Metaphyseal irregularity, High palate, Prominent nose, Wide mouth, Short stature, Clin... |
OMIM:617982 |
Atelosteogenesis, Type Iii |
|
Horizontal sacrum, Rhizomelia, Radial bowing, Tombstone-shaped proximal phalanges, Cervical kypho... |
OMIM:108721 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, Convex nasal ridge, High palate, Short stature, Micromelia, Atrial septal defect, Ab... |
ORPHA:1035 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Upper eyelid edema, High palate, Short stature, S... |
ORPHA:293939 |
Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Abnormal pleura morphology, Hydrops fetalis, Enlarged thora... |
ORPHA:584 |
Short Stature-Micrognathia Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Broad femoral neck, Gastroesophageal reflux, High palate, Ventr... |
OMIM:617164 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Wide nasal bridge, Midline notch of upper alveolar ridge, Cerebellar vermis hyp... |
OMIM:617127 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Depressed nasal ridge, Joint contracture of the hand, Camptodactyly, Micromelia,... |
OMIM:601016 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Cerebellar dysplasia, Short 5th finger, Ventricul... |
ORPHA:500159 |
Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology of th... |
ORPHA:3469 |
Aortic Valve Disease 2 |
|
Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Aortic aneurysm, Calcification of... |
OMIM:614823 |
Char Syndrome |
|
Patent ductus arteriosus, Mesoaxial foot polydactyly, Ventricular septal defect, Short middle pha... |
ORPHA:46627 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Retrocerebellar cyst, Patellar hypoplasia, Encephaloce... |
OMIM:603671 |
Orofaciodigital Syndrome Xi |
|
Gastroesophageal reflux, Wide nasal bridge, Hypoplasia of the odontoid process, Kyphoscoliosis, C... |
OMIM:612913 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Wide nasal bridge, Short stature, Micrognathia, Atrial septal defect, Narrow mouth, Arachnodactyl... |
ORPHA:93946 |
Chromosome 10Q26 Deletion Syndrome |
|
Convex nasal ridge, Wide nasal bridge, Toe syndactyly, Micrognathia, Pectus excavatum, 2-3 toe cu... |
OMIM:609625 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Retrognathia, High palate, Ventricular septal defect, Long philtrum, Tapered finge... |
OMIM:617452 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Wide nasal bridge, Short stature, Submucous cleft hard palate, Single tr... |
OMIM:618106 |
Carey-Fineman-Ziter Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis, Talipes equinovarus, Aplasia/Hypoplasia of the cerebell... |
ORPHA:1358 |
Pitt-Hopkins-Like Syndrome 2 |
|
Gastroesophageal reflux, Wide mouth, Protruding tongue, Scoliosis, Pulmonic stenosis |
OMIM:614325 |
Stickler Syndrome |
|
Micrognathia, Hip dislocation, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal form of the v... |
ORPHA:828 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Noonan Syndrome 11 |
|
Palmoplantar cutis laxa, Short stature, Atrial septal defect, Pectus excavatum, Hypertrophic card... |
OMIM:618499 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 4th metacarpal, Tapered finger, Short 3rd toe, Short 5th metacarpal, Short 4th toe, 2-4 toe... |
OMIM:618569 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Wide nasal bridge, Micrognathia, Decre... |
OMIM:618356 |
Charge Syndrome |
|
Polyhydramnios, Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of tee... |
ORPHA:138 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Ventricular septal defect, Short stature, Atri... |
ORPHA:457193 |
Coffin-Siris Syndrome 2 |
|
Wide nose, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thick lower lip ver... |
OMIM:614607 |
Trisomy 8Q |
|
Camptodactyly of finger, Non-midline cleft lip, Bifid tongue, High palate, Wide nasal bridge, Mye... |
ORPHA:1752 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Incisor macrodontia, Patent ductus arteriosus, Long philtrum, Short stature, Atria... |
OMIM:615502 |
Sialidosis Type 2 |
|
Pedal edema, Hydrops fetalis, Short thorax, Kyphosis, Short stature, Nephropathy, Ascites, Pectus... |
ORPHA:87876 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Wide nasal bridge, Micrognathia, Pulmonary hypoplasia, Overlapping toe, Cleft vertebral arch, Cle... |
ORPHA:83617 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Wide nasal bridge, Smooth philtrum, Depressed nasal tip, Talipes equinovarus, Nuchal cord, Genu v... |
OMIM:619475 |
Diprosopus |
|
Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, Cleft palate, Abnormality... |
ORPHA:1681 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Wide nasal bridge, Cutaneous syndactyly of toes, Temporomandibular joint ankylosis, Micrognathia,... |
ORPHA:2872 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Coxa valga, Hallux valgus, Advanced ossification of carpal bones, Large iliac wi... |
OMIM:271640 |
Partial Deletion Of The Short Arm Of Chromosome 7 |
|
Aplasia of the distal phalanx of the 5th finger, Retrognathia, Contracture of thumb, Patent ductu... |
ORPHA:261911 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Coxa valga, Wide nasal bridge, Micrognathia, Broad hallux, Short neck, Short palm, Ventricular se... |
OMIM:620073 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Bifid tongue, Aplasia/Hypoplasia of the lungs, Renal hypoplasia... |
ORPHA:2167 |
Nail-Patella Syndrome |
|
Biceps aplasia, Triceps aplasia, Pectus excavatum, Glomerulonephritis, Absent distal interphalang... |
OMIM:161200 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Mandibular prognathia, Split foot, Widely-spaced maxillary central incisors, Cle... |
OMIM:601349 |
Noonan Syndrome 13 |
|
Enlarged thorax, Tapered finger, Wide nasal bridge, Microdontia, Micrognathia, Metatarsus adductu... |
OMIM:619087 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Polyhydramnios, Short thorax, Encephalocele, Kyphosis, Short stature, A... |
ORPHA:93274 |
Takenouchi-Kosaki Syndrome |
|
Tapered finger, Abnormal cardiac septum morphology, Wide nasal bridge, Camptodactyly, Overlapping... |
OMIM:616737 |
Marshall-Smith Syndrome |
|
Irregular dentition, Hallux valgus, Recurrent aspiration pneumonia, Microdontia, Atlantoaxial dis... |
OMIM:602535 |
Juberg-Hayward Syndrome |
|
Wide nose, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of th... |
ORPHA:2319 |
Lessel-Kreienkamp Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Dental malocclusion, Gastroesophageal reflux, Wid... |
OMIM:619149 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Micrognathia, Elbow dislocation, Hypoplastic cervical vertebrae, Abnorma... |
ORPHA:628 |
Coffin-Siris Syndrome 3 |
|
Wide nose, High palate, Long philtrum, Wide mouth, Cerebellar hypoplasia, Short stature, Macroglo... |
OMIM:614608 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Ascites, Pulmonic stenosis,... |
OMIM:619433 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Dilated fourth ventricle, Echogenic intracardiac focus, Cerebellar dysp... |
OMIM:617751 |
Myhre Syndrome |
|
2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Short neck, Radial devi... |
OMIM:139210 |
Nager Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Hypoplas... |
ORPHA:245 |
Au-Kline Syndrome |
|
Bifid tongue, Coxa valga, Bifid uvula, Pectus excavatum, Overlapping toe, Cleft palate, Deep palm... |
OMIM:616580 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... |
ORPHA:2839 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Sacral dimple, Atrial septal defect, Narrow mouth, Bilateral single transverse palmar creases, Ma... |
ORPHA:261279 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Polydactyly, Ventricular septal defect, Syndactyly, Depressed nasal bridge, Smoot... |
OMIM:602501 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Ascending aortic dissection, Proportionate short stature, Flexion cont... |
OMIM:608328 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... |
OMIM:618052 |
Peters-Plus Syndrome |
|
Polyhydramnios, Short lingual frenulum, Micrognathia, Pectus excavatum, Short neck, Conical incis... |
OMIM:261540 |
1Q21.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Wide nasal bridge, Toe syndactyly, Talipes equinovarus, Vesic... |
ORPHA:250989 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Short stature, Atrial septal defe... |
ORPHA:52056 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Bell-shaped thorax, Multicystic kidney dysplasia, Myelomeningocele, Ventricular sept... |
ORPHA:1393 |
16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Tapered finger, Long philtrum, Wide mouth, High, narrow palate,... |
ORPHA:485405 |
Kbg Syndrome |
|
Underdeveloped nasal alae, Vertebral fusion, Long philtrum, Short stature, Thoracic kyphosis, Oli... |
ORPHA:2332 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... |
OMIM:615297 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Underdeveloped nasal alae, Wide nasal bridge, Short stature, Abnormality... |
ORPHA:1794 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tapered finger, Wide nasal bridge, Micrognathia, Short neck, Radial deviation of finger, Slender ... |
OMIM:309580 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Radio-Renal Syndrome |
|
Convex nasal ridge, Renal dysplasia, Micrognathia, Pleural effusion, Short neck, Abnormal rib mor... |
ORPHA:3015 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Underdeveloped nasal alae, Non-midline cleft lip, Convex nasal ridge, Wide nasal bridge, Cleft al... |
ORPHA:2007 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Underdeveloped nasal alae, Wide nose, Abnormality of the upper limb, Wide nasal bridge, Clinodact... |
ORPHA:521308 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hyperlordosis, Cleft upper lip, Finger syndactyly, Abnormality of the dentition, Wide nasal bridg... |
ORPHA:3253 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Sacral dimple, Retrognathia, Wide nose, High palate, Ventricular septal defect, Long philtrum, Ta... |
ORPHA:505237 |
Lethal Congenital Contracture Syndrome 11 |
|
Retrognathia, Polyhydramnios, Decreased fetal movement, Pulmonary hypoplasia |
OMIM:617194 |
Lymphatic Malformation 6 |
|
Gastroesophageal reflux, Polyhydramnios, Short stature, Lymphedema, Micrognathia, Nonimmune hydro... |
OMIM:616843 |
Insulin-Like Growth Factor I, Resistance To |
|
Wide nasal bridge, Micrognathia, Pectus excavatum, Radial deviation of finger, Smooth philtrum, P... |
OMIM:270450 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Tapered finger, Toe syndactyly, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Atria... |
OMIM:619720 |
Seckel Syndrome 2 |
|
Prominent nose, Short stature, Cerebellar hypoplasia, Heart murmur, Microdontia, Micrognathia, Cl... |
OMIM:606744 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Tapered finger, Ventricular septal defect, Short... |
OMIM:617159 |
Periventricular Nodular Heterotopia 7 |
|
2-3 toe syndactyly, 1-4 toe syndactyly, Pierre-Robin sequence, Ventricular septal defect, 4-5 fin... |
OMIM:617201 |
Say Syndrome |
|
Tapered finger, Short stature, Micrognathia, Cystic renal dysplasia, Proximal renal tubular acido... |
OMIM:181180 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Olivopontocerebellar hypoplasia, V... |
OMIM:212065 |
Holoprosencephaly 13, X-Linked |
|
Vertebral clefting, Patent foramen ovale, Double outlet right ventricle, Patent ductus arteriosus... |
OMIM:301043 |
19P13.3 Microduplication Syndrome |
|
Hip subluxation, Gastroesophageal reflux, Pulmonary arterial hypertension, Underdeveloped nasal a... |
ORPHA:447980 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Bilateral choanal atresia/stenosis, Wide nasal bridge, Lymphedema, Short sta... |
ORPHA:314679 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Bifid uvula, Pectus excavatum, Short neck, Peripheral pulmonary artery stenosis, ... |
OMIM:617506 |
Roberts Syndrome |
|
Wrist flexion contracture, Polyhydramnios, Micrognathia, Long penis, Phocomelia, Short neck, Radi... |
ORPHA:3103 |
Zellweger Syndrome |
|
Premature birth, Multicystic kidney dysplasia, High palate, Ventricular septal defect, Wide nasal... |
ORPHA:912 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Polyhydramnios, Severe platyspondyly, Micrognathia, Elbow flexion contra... |
ORPHA:508533 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Interphalangeal thumb joint ... |
OMIM:613870 |
Codas Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Polyhydramnios, Delayed eruption of teeth... |
OMIM:600373 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal atresia, Short st... |
OMIM:610536 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Short stature, Microdontia, Abnormal metacarpal mor... |
ORPHA:1307 |
Fetal Gaucher Disease |
|
Fetal akinesia sequence, Hydrops fetalis, High palate, Decreased fetal movement, Intracranial hem... |
ORPHA:85212 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, High palate, Ventricular septal defect, Short philtrum, Unilateral renal agen... |
ORPHA:3306 |
Icf Syndrome |
|
Short stature, Malabsorption, Micrognathia, Macroglossia, Depressed nasal bridge, Protruding tong... |
ORPHA:2268 |
Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Lobulated tongue, Short sternum, Thoracic kyphosis, Stage 5 chronic kidney d... |
ORPHA:2752 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Short 5th metacarpal, Abnormal hand morphology, Bicuspid aortic valve, ... |
ORPHA:228190 |
Biemond Syndrome Type 2 |
|
Delayed puberty, Hypospadias, Preaxial polydactyly, Short stature |
ORPHA:141333 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Microdontia, Micrognathia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of fin... |
ORPHA:363417 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Hypoplastic pubic bone, Short long bone, Micrognathia, Maternal diabetes, Delayed ossification of... |
ORPHA:93346 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Palpitations,... |
OMIM:170390 |
Teebi-Shaltout Syndrome |
|
Wide nasal bridge, Camptodactyly, Metatarsus adductus, Pectus excavatum, Smooth philtrum, Cleft p... |
OMIM:272950 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septa... |
OMIM:618974 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Patent foramen ovale, Respiratory tract infection, Patent ductus arteriosus, Polyhyd... |
OMIM:607143 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifid... |
ORPHA:63260 |
Alg8-Cdg |
|
Hydrops fetalis, Abnormality of the gastrointestinal tract, Camptodactyly, Macroglossia, Intraute... |
ORPHA:79325 |
Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split han... |
OMIM:246560 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Chronic sinusitis, Median cleft l... |
ORPHA:1991 |
Digeorge Syndrome |
|
Truncus arteriosus, Renal dysplasia, Micrognathia, Bifid uvula, Recurrent sinusitis, Cleft palate... |
OMIM:188400 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, 2-3 toe syndactyly, Wide nasal bridge, Smooth philtrum, Cleft palate, Short n... |
OMIM:614701 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Aplasia/Hypoplasia of the lungs, Bilateral single transverse palmar creases, Hypospadia... |
ORPHA:1548 |
Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Wide nasal bridge,... |
OMIM:605130 |
Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Bell-shaped thorax, Coxa valga, Ventricular septal defect, Coxa vara, Sm... |
ORPHA:1425 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Bronchiectasis, Cerebellar hypoplasia, Micrognathia, Pulmonary hypoplasia, Interstitial... |
OMIM:619708 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Wide nose, High palate, Ventricular septal defect, Wide nasal bridge, Short statur... |
OMIM:619995 |
Frontoocular Syndrome |
|
High palate, Micrognathia, Narrow philtrum, Atrial septal defect, Pectus excavatum, Narrow mouth,... |
OMIM:605321 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cutaneous syndactyly of toes, Cutaneous finger synd... |
OMIM:225060 |
Tetraploidy |
|
Radial club hand, Convex nasal ridge, Chiari malformation, Aplasia/Hypoplasia of the lungs, Micro... |
ORPHA:3305 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Cor triatrium sinister, Wide nasal bridge, Pericardial effusion, Patent urach... |
OMIM:618280 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, C... |
OMIM:604381 |
Genitopatellar Syndrome |
|
Short phalanx of finger, Polyhydramnios, Wide nasal bridge, Delayed eruption of teeth, Micrognath... |
OMIM:606170 |
Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Wide nasal bridge, Lymphedema, Clinodactyly, Pectus exc... |
OMIM:607131 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Gastroesophageal reflux, Polyhydramnios, Long philtrum, Abnormality of the kidney, Atrial septal ... |
ORPHA:466926 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Micrognathia, Short neck, Limb undergrowth, Cleft palate, ... |
OMIM:263650 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Gastroesophageal reflux, Mandibular prognathia, Tapered finger, Finger syndactyly, Camptodactyly,... |
ORPHA:435938 |
Noonan Syndrome 4 |
|
Hydronephrosis, Dental malocclusion, Polyhydramnios, Abnormal sternum morphology, Ventricular sep... |
OMIM:610733 |
Orofaciodigital Syndrome Ix |
|
Short tibia, High palate, Recurrent aspiration pneumonia, Short stature, Toe syndactyly, Camptoda... |
OMIM:258865 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Intestinal malrotation, Syn... |
OMIM:601163 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Pulmonary hypoplasia, H... |
OMIM:602088 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
Oculoauriculofrontonasal Syndrome |
|
Underdeveloped nasal alae, Wide nose, Encephalocele, Ventricular septal defect, Micrognathia, Nar... |
ORPHA:398156 |
Tyshchenko Syndrome |
|
Premature birth, Polyhydramnios, Narrow palate, Ventricular septal defect, High palate, Short sta... |
OMIM:615102 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Ten... |
OMIM:616898 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Short stature, Tongue nodules, Toe syndactyly, Foot p... |
OMIM:258860 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Wide nasal bridge, Camptodactyly, Palmoplantar hyperkeratosis, Peripheral pulmonary artery stenos... |
OMIM:280000 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Marfan Syndrome |
|
Aortic tortuosity, Meningocele, Ascending tubular aorta aneurysm, Micrognathia, Pulmonary artery ... |
ORPHA:558 |
Acropectoral Syndrome |
|
Abnormal thorax morphology, Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Dental Anomalies And Short Stature |
|
Intervertebral space narrowing, Mandibular prognathia, Short stature, Widely spaced teeth, Microd... |
OMIM:601216 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Depressed nasal bridge, Narrow mouth, Malar flatte... |
OMIM:615984 |
Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Delayed eruption of teeth, Sinus tachycardia, Flared iliac wing, Anterior... |
OMIM:253200 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, High palate, Short stature, Micromelia, Everted l... |
ORPHA:1784 |
Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Finger syndactyly, Small hand, Short stature, Micrognathia, Oligodontia, Su... |
ORPHA:1787 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Underdeveloped nasal alae, Ventricular septal defect, Short metacarpal, Short stature, Micrognath... |
OMIM:250410 |
Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Polyhydramnios, Cleft upper lip, Wide nose, Wide mouth, Short stature, Narrow chest, ... |
ORPHA:1394 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Wide nasal bridge, Preaxial foot polyda... |
OMIM:175700 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Cleft upper lip, Mandibular prognathia, Palmoplantar cutis laxa, Short stature, Pectus excavatum,... |
OMIM:268850 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Small hand, Short stature, Widely spaced teeth, Micrognat... |
ORPHA:459061 |
Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Short first metatarsal, Short 1st metacarpal, Shortening of all di... |
OMIM:619135 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm... |
OMIM:608670 |
Tatton-Brown-Rahman Syndrome |
|
Aortic root aneurysm, Short toe, Patent ductus arteriosus, Mandibular prognathia, Chiari malforma... |
ORPHA:404443 |
Van Den Ende-Gupta Syndrome |
|
Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... |
OMIM:600920 |
Trisomy 10P |
|
Micrognathia, Abnormal lip morphology, Camptodactyly, Dysphagia, Talipes equinovarus, Orofacial c... |
ORPHA:171929 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Conotruncal defect, Bicuspid aortic valve, Mic... |
ORPHA:2306 |
Angelman Syndrome |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Macroglossia, Hypoplasia of the maxilla, ... |
OMIM:105830 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal vertebral morphology, Spina bifida occu... |
ORPHA:64754 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Wide nasal bridge, Camptodactyly, Short neck, Patent foramen ovale, Ventricular septal defect, Ma... |
ORPHA:369891 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Short stature, Micrognathia, Atrial septal defect, Short nose, Hypopla... |
ORPHA:79113 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Joint hemorrhage, Hematuria, Intracranial hemorrhage, Epistaxis, Aortic regurgitatio... |
ORPHA:99147 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,... |
OMIM:614262 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Facial edema |
OMIM:155900 |
Severe Congenital Nemaline Myopathy |
|
Premature birth, Polyhydramnios, Edema of the dorsum of hands, Abnormal thorax morphology, Decrea... |
ORPHA:171430 |
Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Short femur, Abnormal metaphysis morphology, Aplasia/Hypoplasia of the lungs, Atr... |
ORPHA:1860 |
Congenital Myopathy 12 |
|
Polyhydramnios, Fetal akinesia sequence, High palate, Joint contracture of the hand, Decreased fe... |
OMIM:612540 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Prominent nose, Wide nasal bridge, Short... |
OMIM:614886 |
Congenital Tracheal Stenosis |
|
Polyhydramnios, Ascending aorta hypoplasia, Abnormal stomach morphology, Fetal ascites, Abnormali... |
ORPHA:141127 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Prominent nasolabial fold, Pectus excavatum, Small, conical teeth, Pro... |
ORPHA:2962 |
Phelan-Mcdermid Syndrome |
|
2-3 toe syndactyly, Wide nasal bridge, Micrognathia, Sacral dimple, Vesicoureteral reflux, Ventri... |
OMIM:606232 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Cutis Laxa, Autosomal Dominant 1 |
|
Convex nasal ridge, Long philtrum, Ventricular septal defect, Bronchiectasis, Congestive heart fa... |
OMIM:123700 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Vesicoureteral reflux, Wide mouth, Depressed nasal bridge, Protruding tongue, Anteverted nares, G... |
OMIM:618797 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Abnormal mandible morphology, Tapered finger, Short 4th metac... |
ORPHA:3201 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Convex nasal ridge, High palate, Broad secondary alveolar ridge, Ventricular septal defect, Wide ... |
ORPHA:3369 |
Al Kaissi Syndrome |
|
Sacral dimple, Long philtrum, Small hand, Wide nasal bridge, Short stature, Clinodactyly, Deep pa... |
OMIM:617694 |
Trisomy 20P |
|
Camptodactyly of finger, Ectopic anus, Microdontia, Micrognathia, Everted lower lip vermilion, Ab... |
ORPHA:261318 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Esophageal atresia, Bilateral ... |
OMIM:300514 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Thoracic hypoplasia, Wide nasal bridge, Renal dysplasia, Microdontia, Mi... |
OMIM:266920 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Cleft palate, Rocker bottom foot, Choanal atresia, Overhang... |
ORPHA:163979 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Wide nasal bridge, Delayed erupti... |
OMIM:305620 |
Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Vascular dilatation, Encephalocele, Wide mouth, Stage 5 chr... |
OMIM:216360 |
3Mc Syndrome 3 |
|
Sacral dimple, Cleft upper lip, Short stature, Clinodactyly, Radioulnar synostosis, Penoscrotal h... |
OMIM:248340 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebellar hypoplasia, Hypoplastic left hear... |
OMIM:616276 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Bifid uvula... |
ORPHA:672 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Patent ductus arteriosus, Pancreatic cysts, Hepatic cysts, Renal dysplasia, Stage 5 chronic kidne... |
OMIM:208540 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Long philtrum, Short philtrum, Coarctation of aorta, ... |
OMIM:618929 |
Lambotte Syndrome |
|
Retrognathia, Convex nasal ridge, Ventricular septal defect, Preaxial foot polydactyly, Narrow mo... |
OMIM:245552 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Intervertebral space narrowing, Genu valgum, Capitate-hamate fusion, Short metacarpal,... |
OMIM:614078 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Underdeveloped nasal alae, Wide nose, Ventricular septal defect,... |
ORPHA:85202 |
Stevenson-Carey Syndrome |
|
Underdeveloped nasal alae, Gastroesophageal reflux, Pierre-Robin sequence, Joint contracture of t... |
OMIM:611961 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Convex nasal ridge, High palate, Ventricular septal defect, Wide nasal bridge, Short stature, Bro... |
OMIM:314320 |
Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Cleft palate, Talipes equi... |
OMIM:211350 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Short 5th finger, Abnormality of the anus, Wide nasal bridge, Bifid uvul... |
OMIM:607872 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
8P Inverted Duplication/Deletion Syndrome |
|
Wide nasal bridge, Micrognathia, Hip dislocation, Pectus excavatum, Everted lower lip vermilion, ... |
ORPHA:96092 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
3-Methylglutaconic aciduria, Neonatal death, Pulmonary hypoplasia, Cerebellar hypoplasia |
OMIM:615228 |
Intellectual Disability-Strabismus Syndrome |
|
Polyhydramnios, Micrognathia, Short neck, Talipes equinovarus, Rocker bottom foot, Prominent nose... |
ORPHA:363528 |
Tatton-Brown-Rahman Syndrome |
|
Vesicoureteral reflux, Everted upper lip vermilion, Ventricular septal defect, Deep philtrum, Fet... |
OMIM:615879 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Auriculocondylar Syndrome 2 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... |
OMIM:614669 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
High palate, Long philtrum, Wide nasal bridge, Cerebellar vermis hypoplasia, Atrial septal defect... |
OMIM:619383 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Dextrocardia |
|
Abnormal pulmonary situs morphology, Abnormal EKG, T-wave inversion, Abnormal lung lobation, Abno... |
ORPHA:1666 |
Alpha-Mannosidosis, Adult Form |
|
Macroglossia, Recurrent gastroenteritis, Aortic regurgitation, Oligosacchariduria, Cerebellar atr... |
ORPHA:309288 |
Carey-Fineman-Ziter Syndrome 1 |
|
Tapered finger, Abnormal cardiac septum morphology, Micrognathia, Dysphagia, Cleft palate, Glosso... |
OMIM:254940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Underdeveloped nasal alae, Hyperlordosis, Gastroesophageal reflux, High palate, Pectus carinatum,... |
OMIM:300986 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Coarctation of aorta, Pectus e... |
ORPHA:261243 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Cerebellar hypoplas... |
ORPHA:284169 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Gastroesophageal reflux, Narrow palate, Exaggerated median ... |
ORPHA:313892 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Polyhydramnios, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral... |
OMIM:615633 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cleft upper lip, Hyposmia, Short stature, Clinodactyly, Delayed puberty, Tooth agenesis, Anosmia,... |
OMIM:147950 |
Mosaic Trisomy 20 |
|
Micrognathia, Cleft palate, Vertebral fusion, Ventricular septal defect, Abnormal mitral valve mo... |
ORPHA:1724 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Retrognathia, Prominent nose, Hallux valgus, ... |
OMIM:251255 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Encephalocele, Depressed nasal bridge, Aplasia/Hypoplasia of the radius, S... |
ORPHA:2117 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Tapered finger, Hallux valgus, Wide nasal bridge, Micrognathia, Pectus excava... |
OMIM:618659 |
Costello Syndrome |
|
Gastroesophageal reflux, Polyhydramnios, Narrow palate, Ventricular septal defect, Short stature,... |
ORPHA:3071 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Steep acetabular roof, Short stature, Flexion... |
OMIM:610758 |
Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Chiari malformation, Micrognathia, Elbow dislocation, Pectus excavatum, ... |
ORPHA:2462 |
Neu-Laxova Syndrome |
|
Polyhydramnios, Micrognathia, Bifid uvula, Pulmonary hypoplasia, Everted lower lip vermilion, Cle... |
ORPHA:2671 |
Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Wide nasal bridge, Microdontia, Hip dislocation, Pectus excav... |
ORPHA:96169 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cleft upper lip, Finger joint hypermobility, Hyposmia, Unilateral renal agenesis, Pectus excavatu... |
OMIM:244200 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Clinodactyly, Coarctatio... |
OMIM:618164 |
Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Aplasia/Hypoplasia involving the nose, Multicystic kidney dysplasia, Aplasia/Hypo... |
ORPHA:3301 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Long philtrum, Chiari malformation, Toe syndactyly, Micrognathia, Renal... |
ORPHA:171839 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Preaxial hand polydactyly, Short stature, Micrognathia, Missing ... |
ORPHA:52047 |
Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, Multicystic kidney dysplasia, High palate, Preaxial hand polydactyly, Uppe... |
ORPHA:1297 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... |
OMIM:271530 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena... |
ORPHA:411709 |
Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Wide nasal bridge, Microdontia, Pectus excavatum, Everted lower lip ... |
OMIM:615873 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Short philtrum, Camptodactyly, Atrial septal def... |
OMIM:301039 |
Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Short femur, Short neck, Aplasia/hypoplasia involving bones of the extremities, Cle... |
ORPHA:94068 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Microdontia, Micrognathia, Elbow flexion c... |
OMIM:245600 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Williams Syndrome |
|
Aortic arch aneurysm, Colonic diverticula, Hallux valgus, Microdontia, Abnormality of the bladder... |
ORPHA:904 |
Hemifacial Microsomia With Radial Defects |
|
Triphalangeal thumb, Non-midline cleft lip, Complete duplication of thumb phalanx, Cleft palate, ... |
OMIM:141400 |
Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm, Tapered finger, Wide nasal bridge, Micrognathia, Taurodontia, S... |
ORPHA:444072 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Abnormal cerebellum mo... |
OMIM:618652 |
Frontometaphyseal Dysplasia 2 |
|
Wide nasal bridge, Bifid uvula, Camptodactyly, Pectus excavatum, Dislocated radial head, Cleft pa... |
OMIM:617137 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Convex nasal ridge, Microdontia, Micrognathia, Broad hallux,... |
ORPHA:251028 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Short stature, Missing ribs, Anteriorly place... |
ORPHA:1488 |
Behçet Disease |
|
Endocarditis, Pulmonary embolism, Oral ulcer, Recurrent aphthous stomatitis, Glomerulopathy, Cere... |
ORPHA:117 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Wide nasal bridge, Micrognathia, 2-4 finger syndactyly, Bilateral talipes equinov... |
OMIM:617746 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency |
OMIM:615991 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Micrognathia, Camptodactyly, Smooth philtrum, Slender finger, Bilateral talipes equinovarus, Aort... |
OMIM:618343 |
Johnson Neuroectodermal Syndrome |
|
Preaxial hand polydactyly, Hand polydactyly, Everted lower lip vermilion, Severe short stature, A... |
ORPHA:2316 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial head, Pectus excavatum, Later... |
OMIM:182212 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Premature birth, Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Fe... |
ORPHA:440354 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, Patent ductus arteriosus, Polyhydramnios, High palate, Wide nasal bridge, Short sta... |
OMIM:618005 |
Blepharocheilodontic Syndrome 1 |
|
Conical tooth, Cleft upper lip, Neural tube defect, Hypodontia, Clinodactyly, Anal atresia, Cutan... |
OMIM:119580 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Patent ductus arteriosus, Chiari malformation, Atrial septal defect |
ORPHA:254351 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Polyhydramnios, Tapered finger, Toe syndactyly, Everted lower lip vermilion, Pulmonary artery ste... |
ORPHA:459070 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Underdeveloped nasal alae, High palate, Long philtrum, Short stature, Mi... |
OMIM:616549 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Reduced left ventricular ejection fraction, Renal amyloidosis, Cardiac am... |
ORPHA:314652 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Hypertension, Atrial septal defect, Renal... |
OMIM:610205 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Atrial septal defect, Spina bif... |
ORPHA:2475 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Patent ductus arteriosus, Pierre-Robin sequence, Abnormal cardiac septum morphology, Cerebellar h... |
OMIM:217980 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Short middle phalanx of the 4th finger, Radioulnar synostosis, Limited pronation... |
OMIM:616738 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Hyposmia, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot poly... |
OMIM:615994 |
Atkin-Flaitz Syndrome |
|
Genu valgum, Tapered finger, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion,... |
OMIM:300431 |
Fraser Syndrome 1 |
|
Abnormality of the anus, Midline nasal groove, Wide nasal bridge, Pulmonary hypoplasia, Cleft pal... |
OMIM:219000 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, High palate, Ventricular septal defect, Narrow chest, Micrognathia, Pulmonary lym... |
ORPHA:1655 |
Pentasomy X |
|
Camptodactyly of finger, Patent ductus arteriosus, Small hand, Abnormal cardiac septum morphology... |
ORPHA:11 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Small hand, Micrognathia, Clinodactyly, Downturned corners of mouth, Abnormal heart morphology, I... |
ORPHA:254525 |
Kinsship Syndrome |
|
Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Cervical ribs, Dislocated radial head, Sh... |
OMIM:619297 |
Arthrogryposis, Distal, Type 5D |
|
Hyperlordosis, Limited elbow movement, Short stature, Tongue atrophy, Micrognathia, Elbow flexion... |
OMIM:615065 |
3Mc Syndrome 2 |
|
Cleft upper lip, High palate, Limited elbow movement, Wide nasal bridge, Caudal appendage, Hip di... |
OMIM:265050 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Finger syndactyly, Enlarged epip... |
ORPHA:3255 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Microdontia, Micrognathia, Atrial septal defect, Bilateral triphalangeal thumbs, Short distal pha... |
OMIM:619356 |
Potocki-Lupski Syndrome |
|
Patent foramen ovale, Dental malocclusion, Mandibular prognathia, High palate, Gastroesophageal r... |
OMIM:610883 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
Baller-Gerold Syndrome |
|
Abnormal carpal morphology, Abnormal cardiac septum morphology, Micrognathia, Abnormality of the ... |
ORPHA:1225 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Wide mouth, Clinodactyly, Bulbous nose, Macroglossia, Everted lower lip ver... |
OMIM:616789 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, C... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Tooth agenesis, C... |
ORPHA:352665 |
2Q37 Microdeletion Syndrome |
|
Toe syndactyly, Broad columella, Short neck, Short palm, Nephroblastoma, Multicystic kidney dyspl... |
ORPHA:1001 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Limited elbow extension, Cleft palate, Scapular winging, Disproportionate short-trunk... |
OMIM:272460 |
Dilated Cardiomyopathy With Ataxia |
|
3-Methylglutaconic aciduria, Hypoplasia of penis, Dilated cardiomyopathy, Muscular ventricular se... |
ORPHA:66634 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue, Dysphagia |
ORPHA:98795 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Polyhydramnios, Wide nasal bridge, Delayed eruption of teeth, Renal dysp... |
OMIM:601803 |
Jansen-De Vries Syndrome |
|
Hyperlordosis, Gastroesophageal reflux, Ventricular septal defect, Wide mouth, Small hand, Short ... |
OMIM:617450 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Wide nasal bridge, Bicuspid aortic valve, Hydroureter, Microgn... |
OMIM:616367 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Clubbing of fingers, Pulmonary artery dilatation, Palpitations, Peripheral... |
ORPHA:99106 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Cleft upper lip, Encephalocele, Ventricular septal defect, Toe s... |
OMIM:100300 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Macrodontia of permanent maxillary central incisor, Widely spaced teet... |
OMIM:618067 |
17Q12 Microduplication Syndrome |
|
Polyhydramnios, Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology, Atrial septal d... |
ORPHA:261272 |
Joubert Syndrome 10 |
|
Wide nasal bridge, Deep philtrum, Thick vermilion border, Growth delay, Postaxial polydactyly, Ce... |
OMIM:300804 |
Clark-Baraitser syndrome |
|
Genu valgum, Tapered finger, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion,... |
OMIM:300602 |
Schuurs-Hoeijmakers Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormal cardiac septum morphology, Wide mouth, V... |
OMIM:615009 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Hypoplasia of penis, Hypoplastic... |
ORPHA:2772 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Microdontia, Bifid uvula, Taurodontia, 2-3 toe cutaneous syndactyly, Small, conica... |
OMIM:129400 |
Vici Syndrome |
|
Everted upper lip vermilion, Micrognathia, Median cleft lip, Dysphagia, Cleft palate, Postnatal g... |
OMIM:242840 |
Rhizomelic Syndrome |
|
Bifid distal phalanx of the thumb, Complete duplication of thumb phalanx, Rhizomelia, Short statu... |
OMIM:268250 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, A... |
ORPHA:1278 |
Meckel Syndrome, Type 6 |
|
Cleft upper lip, Hepatic cysts, Aplasia of the bladder, Anencephaly, Pulmonary hypoplasia, Postax... |
OMIM:612284 |
Noonan Syndrome 5 |
|
Polyhydramnios, Abnormal sternum morphology, Mandibular prognathia, Wide mouth, Short stature, At... |
OMIM:611553 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Med... |
ORPHA:1832 |
Noonan Syndrome 7 |
|
Short stature, Impaired oropharyngeal swallow response, Atrial septal defect, Pectus excavatum, H... |
OMIM:613706 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, High palate, Long philtrum, Bilateral talipes equinovarus, Mitral valve pro... |
OMIM:615539 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Micrognathia, Polycystic kidney dysplasia, Camptoda... |
OMIM:214110 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphol... |
ORPHA:971 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, High palate, Narrow palate, Short f... |
OMIM:613684 |
Scleromyxedema |
|
Gastroesophageal reflux, Hypoperistalsis, Abnormality of the gastrointestinal tract, Transient is... |
ORPHA:167635 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Polyhydramnios, Cleft soft palate, Micrognathia, Abnormality of the wrist, Irregular acetabular r... |
ORPHA:93316 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Renal hypoplasia/aplasia, Ascites, Ren... |
ORPHA:2123 |
Cog1-Cdg |
|
Coxa valga, Wide nasal bridge, Micrognathia, Butterfly vertebrae, Short neck, Posterior rib gap, ... |
ORPHA:263508 |
Penile Agenesis |
|
Absent penis, Urethral fistula, Pulmonary hypoplasia, Abnormality of the bladder, Bilateral talip... |
ORPHA:49 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Tapered finger, Hallux valgus, Wide nasal bridge, Renal dysplasia, 5-minute APGAR score of 5, Pro... |
ORPHA:480880 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Con... |
ORPHA:1540 |
Feingold Syndrome 1 |
|
2-3 toe syndactyly, Polyhydramnios, Wide nasal bridge, Micrognathia, Everted lower lip vermilion,... |
OMIM:164280 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue, Scoliosis, Dysphagia |
ORPHA:98794 |
Campomelic Dysplasia |
|
Irregular dentition, Short phalanx of finger, Polyhydramnios, Spinal dysraphism, Thoracic hypopla... |
OMIM:114290 |
Distal Trisomy 17Q |
|
Hallux valgus, Micrognathia, Overlapping toe, Cleft palate, Vesicoureteral reflux, Genu valgum, H... |
ORPHA:3379 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Wide nasal bridge, Abnormality of the pulmonary artery, Pectus exc... |
ORPHA:500 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Ventricular septal defect, Polysyndactyly of hallux, Preaxial foot polydac... |
OMIM:235750 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Short phalanx of finger, Micrognathia, Cleft palate, Beaking of vertebral bodies, Short palm, Lum... |
OMIM:215150 |
Renpenning Syndrome |
|
Mandibular prognathia, Prominent nose, Short philtrum, Anal atresia, Clinodactyly of the 5th fing... |
ORPHA:3242 |
Opitz Gbbb Syndrome |
|
Recurrent aspiration pneumonia, Ectopic anus, Wide nasal bridge, Micrognathia, Dysphagia, Abnorma... |
ORPHA:2745 |
Lethal Congenital Contracture Syndrome 9 |
|
Polyhydramnios, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Short umbili... |
OMIM:616503 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Wide mouth, Widely spaced teeth, Protruding tongue, Dysphagia |
ORPHA:411511 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Short stature, Ulnar deviation of finger, Micromelia, Abnormal pelvic gi... |
ORPHA:2928 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Wide mouth, Branchial anomaly, H... |
ORPHA:1296 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Everted lower lip vermilio... |
ORPHA:251014 |
Radio-Tartaglia Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Prominent nasal tip, Fetal distress, Dysphagia, ... |
OMIM:619312 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, High palate, Rhizomelia, Wide nasal bridge, Micrognathia, Epiphyse... |
OMIM:222765 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, High palate, Ventricular septal defect, Palmoplantar cutis laxa, Short ... |
OMIM:616564 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Mandibular prognathia, Kyphosis, Short stature, Toe syndactyly, Aplasia/Hypopl... |
ORPHA:3082 |
Lateral Meningocele Syndrome |
|
Meningocele, Micrognathia, Pectus excavatum, Short neck, Smooth philtrum, Cleft palate, Vertebral... |
OMIM:130720 |
Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Polydactyly |
OMIM:615988 |
Meier-Gorlin Syndrome 1 |
|
Coxa valga, Microdontia, Micrognathia, Camptodactyly, Elbow dislocation, Absent sternal ossificat... |
OMIM:224690 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short thorax, Short metacarpal, Widely spaced teeth, Angel-shaped phalan... |
OMIM:617102 |
Acrodysostosis |
|
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Abnormal form of the vertebra... |
ORPHA:950 |
Pycnodysostosis |
|
Convex nasal ridge, Chiari malformation, Micrognathia, Hypoplastic iliac wing, Prominent nose, Di... |
ORPHA:763 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Genu valgum, Abnormal sternum morphology, Rhizomelia, Short stature, Fixed elbow flexion, Microgn... |
ORPHA:166016 |
You-Hoover-Fong Syndrome |
|
Vascular ring, Clinodactyly, Accessory oral frenulum, Coarctation of aorta, Pectus excavatum, Dou... |
OMIM:616954 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Ectopic anus, Abnormality of the wrist, Postaxial hand polydactyly, Abse... |
ORPHA:3138 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Bicuspid aortic valve, Hypertension, A... |
OMIM:613355 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Wide nasal bridge, Flared iliac wing, Pectus excavatum, Hypertrophic cardi... |
OMIM:617303 |
Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Absent thumb, Finger syndactyly, Toe syndactyly, Micrognathia, Renal h... |
ORPHA:1234 |
Rabson-Mendenhall Syndrome |
|
Wide nose, Polydactyly, Mandibular prognathia, High palate, Ventricular septal defect, Short stat... |
ORPHA:769 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, High palate, Aspiration pneumonia, Deep philtrum, Micrognathia, Short nose, Recurren... |
ORPHA:314655 |
Distal Monosomy 3P |
|
Sacral dimple, Atrioventricular canal defect, High palate, Long philtrum, Short stature, Microgna... |
ORPHA:1620 |
Dysostosis, Stanescu Type |
|
Convex nasal ridge, Pectus excavatum, Short neck, Tooth agenesis, Abnormal metaphysis morphology,... |
ORPHA:1798 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Hydrops fetalis, Cerebellar hypoplasia, Hepatocellular carcinoma, Hypoplasia of t... |
ORPHA:88618 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, 2-3 toe syndactyly, Dilated fourth ventricle, Short philtrum, Clinodactyly of t... |
OMIM:613443 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Thick upper lip vermilion, Enlarged thorax, Wide nasal bridge, Rhizo-meso-acromelic limb shorteni... |
ORPHA:163654 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Elevated pulmonary artery pressure, Ascending tub... |
ORPHA:99094 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Wide nasal bridge, Abnormal cerebral vascular morphology, Microdontia, Narrow pelvis bone, Tooth ... |
ORPHA:2637 |
Cardiospondylocarpofacial Syndrome |
|
Mitral valve prolapse, Synostosis of carpal bones, Failure of eruption of permanent teeth, Severe... |
ORPHA:3238 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,... |
OMIM:180700 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Lymphedema, Pulmonary lymphangiectasia, Membranoprolife... |
OMIM:137940 |
Naxos Disease |
|
Sudden cardiac death, Cleft upper lip, Paroxysmal ventricular tachycardia, Congestive heart failu... |
ORPHA:34217 |
19Q13.11 Microdeletion Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Ventricular septal defect, Wide mouth, Finger syndactyly... |
ORPHA:217346 |
Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Abnormal lung lobation, Ectopia cordis, Hand polydactyly, Abnorma... |
OMIM:217100 |
1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Short stature, Submucous cleft hard palate, Pulmonary hypoplasia, Depr... |
ORPHA:250999 |
Williams-Beuren Syndrome |
|
Coronary artery stenosis, Colonic diverticula, Hallux valgus, Microdontia, Retinal arteriolar tor... |
OMIM:194050 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, Vesicoureteral reflux, 2-3 toe syndactyly, Everted upper lip vermilion, ... |
OMIM:619951 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Wide nose, Patent foramen ovale, Wide nasal bridge, Microretrognathia, Atrial septal defect, Addu... |
ORPHA:89844 |
Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Sudden cardiac death, Abnormal pleura morphology, Cerebral ischemia, R... |
ORPHA:397 |
Distal Trisomy 18Q |
|
Camptodactyly of finger, High palate, Progressive intervertebral space narrowing, Micrognathia, A... |
ORPHA:1716 |
Epilepsy, Progressive Myoclonic, 9 |
|
Short thumb, Microglossia, Scoliosis |
OMIM:616540 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Upper limb amyotrophy, Tongue atrophy, Kyphoscoliosis, Proximal muscle weakness in upper limbs, D... |
ORPHA:496689 |
Dystonia, Juvenile-Onset |
|
Cleft upper lip, Achalasia, Femoral retroversion, Pseudobulbar paralysis, Kyphoscoliosis, Dysphag... |
OMIM:607371 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Deep philtrum, Renal dysplasia, Wide nasal bridge, Short stature, Inferior cerebel... |
OMIM:618571 |
H Syndrome |
|
Abnormal cardiovascular system physiology, Cleft upper lip, Upper eyelid edema, Facial telangiect... |
ORPHA:168569 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Foot polydactyly, Vertebral segmentation de... |
ORPHA:3186 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Coxa valga, Advanced ossification of carpal bones, Bifid uvula, Hip disl... |
OMIM:615777 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Pectus excavatum, Dislocated ra... |
OMIM:186500 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed eruption of teeth, Micrognathia, Metacarpal osteolysis, Gingiv... |
OMIM:259600 |
Galloway-Mowat Syndrome 2, X-Linked |
|
High palate, Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Micrognathia, Min... |
OMIM:301006 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Polyhydramnios, Wide nasal bridge, Tetraphocomelia, Micr... |
OMIM:268300 |
Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Intestinal malrotation, Postaxi... |
OMIM:603194 |
Shashi-Pena Syndrome |
|
Retrognathia, Patent ductus arteriosus, Kyphosis, Short metacarpal, Dilation of Virchow-Robin spa... |
OMIM:617190 |
Legius Syndrome |
|
High palate, Micrognathia, Pectus excavatum, Supravalvar pulmonary stenosis, Short neck, High, na... |
OMIM:611431 |
Renal Hypodysplasia/Aplasia 4 |
|
Anhydramnios, Pulmonary hypoplasia, Bilateral renal agenesis |
OMIM:619887 |
Vacterl With Hydrocephalus |
|
Retrognathia, Polyhydramnios, Esophageal atresia, Absence of the sacrum, Hypoplasia of the radius... |
ORPHA:3412 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syndactyly, Micrognat... |
ORPHA:84 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... |
OMIM:618719 |
Renal Hypodysplasia/Aplasia 2 |
|
Anhydramnios, Pulmonary hypoplasia, Bilateral renal agenesis |
OMIM:615721 |
Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Smooth philtrum, Tricuspid... |
ORPHA:261337 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Anterior rib cupping, Coxa vara, Hypoplasti... |
OMIM:184250 |
Craniofrontonasal Syndrome |
|
Cleft upper lip, Wide nasal bridge, Short stature, Toe syndactyly, Clinodactyly of the 5th finger... |
OMIM:304110 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Thick upper lip vermilion, Short phalanx of finger, Thoracic hypoplasia, Wide nasal bridge, Rhizo... |
OMIM:611717 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Wide nasal bridge, Toe syndactyly, Microdontia, Broad hallux, Postaxial hand p... |
OMIM:620107 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Micrognathia, Short neck, Ovoid vertebral bodies, Flattened epiphysis, Slender finger... |
ORPHA:163649 |
Coffin-Siris Syndrome |
|
Short 5th finger, Delayed eruption of teeth, Hepatoblastoma, Thick nasal alae, Postnatal growth r... |
ORPHA:1465 |
Cousin Syndrome |
|
Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Wrist flexion contracture, Humeroradia... |
OMIM:260660 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Patent ductus arteriosus, Gastroesophageal reflux, Pulmonary arterial hypertensi... |
OMIM:614857 |
Harrod Syndrome |
|
Dental malocclusion, Multicystic kidney dysplasia, High palate, Kyphosis, Long nose, Abnormal pel... |
ORPHA:2115 |
Seckel Syndrome 1 |
|
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:210600 |
Noonan Syndrome |
|
Enlarged thorax, High palate, Short stature, Lymphedema, Thick lower lip vermilion, Micrognathia,... |
ORPHA:648 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Wide nasal bridge, Micrognathia, Bifid uvula, Overlapping toe, Contractu... |
ORPHA:314585 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Protrusio acetabuli, Hypoplastic pulmonary veins, Long philtrum, Coxa vara, ... |
OMIM:610682 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Hypertension, Renal atrophy, Multipl... |
OMIM:620056 |
Blepharonasofacial Malformation Syndrome |
|
Underdeveloped nasal alae, Non-midline cleft lip, Wide nose, Finger syndactyly, Long philtrum, Wi... |
ORPHA:1252 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip, Hematuria |
OMIM:120433 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Wide nasal bridge, Secundum atrial septal defect, Neonatal omphalitis, Cleft pa... |
OMIM:612541 |
Okamoto Syndrome |
|
Polydactyly, Wide nasal bridge, Exaggerated median tongue furrow, Cleft palate, Ventricular septa... |
ORPHA:2729 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Fetal pericardial effusion |
OMIM:619462 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Abnormal pleura morphology, Enlarg... |
ORPHA:2570 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Hemolytic-uremic syndrome, Methylmalonic aciduria, Hydrops fetal... |
ORPHA:79282 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the upper limb, Narrow palate, Crowded maxillary incisors, Aplasia/Hypoplasia of t... |
ORPHA:2063 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Gastroesophageal reflux, High palate, Tapered finger, Wide nasal bridge, Prominent nasal bridge, ... |
OMIM:616977 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Microphallus, Micrognathia, Clinodactyly of the 5th finger, Small ... |
ORPHA:397590 |
Myopathy, Centronuclear, 5 |
|
Retrognathia, Hip contracture, High palate, Micrognathia, Bifid uvula, Dilated cardiomyopathy, Na... |
OMIM:615959 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Renal cyst, Postaxial hand polydactyly,... |
OMIM:611561 |
Aicardi Syndrome |
|
Bifid ribs, Gastroesophageal reflux, Cleft upper lip, Aplasia/Hypoplasia of the cerebellum, Small... |
ORPHA:50 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Renal cortical cysts, Thoracic hypoplasia, Recurrent aspiration pneumonia, Renal dys... |
ORPHA:397715 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Gastroesophageal reflux, Widely-spaced incisors, Ventricular septal defect, Wide mouth, Single um... |
OMIM:617635 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Increased intervertebral space, Short ribs, Short long bone, Coarse met... |
OMIM:618961 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, Hyperlordosis, Abnormal metaphysis morphology, Delayed eruption of teeth, Large ili... |
ORPHA:2780 |
Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pect... |
ORPHA:199 |
Keipert Syndrome |
|
Short stature, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Short hallux, Broad thu... |
ORPHA:2662 |
Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of th... |
OMIM:114300 |
X Small Rings |
|
Aortic root aneurysm, 2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Ventricular sep... |
ORPHA:96201 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Convex nasal ridge, Chiari malformation, Abnormal metacarpa... |
ORPHA:93262 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Abnormal hand morphology, Ventricular septal defect |
OMIM:122850 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, High palate, Short foot, Large hands, Short stature, Micrognathia, Diastem... |
OMIM:300534 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
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Renal cyst, Preaxial foot polydactyly, Postaxial hand polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
Microphthalmia, Syndromic 1 |
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Camptodactyly, Pulmonary hypoplasia, Pectus excavatum, Radial deviation of finger, Orofacial clef... |
OMIM:309800 |
Neurocardiofaciodigital Syndrome |
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Retrognathia, Vesicoureteral reflux, Polydactyly, Patent ductus arteriosus, High palate, Dilated ... |
OMIM:619869 |
Wolcott-Rallison Syndrome |
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Double outlet right ventricle, Short stature, Atrial septal defect, Growth delay, Dehydration, As... |
ORPHA:1667 |
Waardenburg Syndrome Type 1 |
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Underdeveloped nasal alae, Meningocele, Cleft upper lip, Mandibular prognathia, Wide nasal bridge... |
ORPHA:894 |
Mesomelia-Synostoses Syndrome |
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Convex nasal ridge, Micrognathia, Abnormality of the wrist, Abnormal oral frenulum morphology, Me... |
ORPHA:2496 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
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Thick upper lip vermilion, Polyhydramnios, Wide nasal bridge, Short lingual frenulum, Microdontia... |
OMIM:617360 |
King-Denborough Syndrome |
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High palate, Ventricular septal defect, Deep philtrum, Short stature, Thoracic kyphosis, Decrease... |
OMIM:619542 |
Weill-Marchesani Syndrome |
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Ventricular septal defect, Short stature, Mitral regurgitation, Brachydactyly, Aortic valve steno... |
ORPHA:3449 |
Orofaciodigital Syndrome Iii |
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Short sternum, Bifid tongue, Kyphosis, Tongue nodules, Microdontia, Bifid uvula, Supernumerary to... |
OMIM:258850 |
Multicentric Carpotarsal Osteolysis Syndrome |
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Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Stage 5 chronic kidney dis... |
OMIM:166300 |
Idiopathic Neonatal Atrial Flutter |
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Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... |
ORPHA:45452 |
Beaulieu-Boycott-Innes Syndrome |
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Patent ductus arteriosus, Dental malocclusion, Ventricular septal defect, Recurrent urinary tract... |
OMIM:613680 |
Townes-Brocks Syndrome |
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Chiari malformation, Abnormal cardiac septum morphology, Toe syndactyly, Absent toe, Abnormal rib... |
ORPHA:857 |
Alkuraya-Kucinskas Syndrome |
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Hand clenching, Cerebellar dysplasia, High palate, Cerebellar hypoplasia, Pericardial effusion, M... |
OMIM:617822 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
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Genu valgum, Hypoplasia of penis, Anal atresia, Abnormal palate morphology, Hypospadias, Tetralog... |
ORPHA:1381 |
Cardiofaciocutaneous Syndrome 1 |
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Polyhydramnios, Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Deep pal... |
OMIM:115150 |
Autosomal Dominant Spondylocostal Dysostosis |
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Hyperlordosis, Short thorax, Wide nasal bridge, Vertebral segmentation defect, Missing ribs, Post... |
ORPHA:1797 |
Limb Body Wall Complex |
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Thoracic hypoplasia, Wide nasal bridge, Abnormal thorax morphology, Spina bifida occulta, Broad h... |
ORPHA:2369 |
Trisomy 9P |
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Sacral dimple, Non-midline cleft lip, Kyphosis, Abnormal nasal morphology, Clinodactyly of the 5t... |
ORPHA:236 |
Facial Clefting, Oblique, 1 |
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Cleft palate, Cleft upper lip, Deep palmar crease |
OMIM:600251 |
Lethal Recessive Chondrodysplasia |
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Polyhydramnios, Short long bone, Flared elbow metaphyses, Micrognathia, Macroglossia, Edema, Limb... |
ORPHA:1423 |
Van Maldergem Syndrome 2 |
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Irregular dentition, Hip subluxation, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Tali... |
OMIM:615546 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Camptodactyly of finger, High palate, Tapered finger, Short stature, Clinodactyly, Hypoplasia of ... |
ORPHA:85279 |
Syndactyly, Type Iv |
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Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Snijders Blok-Campeau Syndrome |
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Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Perimembranous ventricular sep... |
OMIM:618205 |
Rhombencephalosynapsis |
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Short phalanx of finger, Polydactyly, Abnormal dentate nucleus morphology, Fusion of the cerebell... |
ORPHA:59315 |
Hydrolethalus |
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Retrognathia, Polyhydramnios, Gingival cleft, Micrognathia, Arrhinencephaly, Bifid uvula, Submuco... |
ORPHA:2189 |
Hydrops Fetalis, Nonimmune |
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Hydrops fetalis, Congestive heart failure, Nonimmune hydrops fetalis |
OMIM:236750 |
Noonan Syndrome 8 |
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Patent ductus arteriosus, Polyhydramnios, Abnormal sternum morphology, Palmoplantar cutis laxa, V... |
OMIM:615355 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Aortic arch aneurysm, Abnormality of the anus, Abnormal cardiac septum m... |
ORPHA:1606 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Patent ductus arteriosus, Finger syndactyly, Toe syndactyly, Persistent cloaca, Renal hypoplasia/... |
ORPHA:1112 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
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Mandibular prognathia, High palate, Kyphosis, Pectus excavatum, Hypoplasia of the maxilla, Scolio... |
OMIM:300676 |
Anophthalmia Plus Syndrome |
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Deviation of finger, Non-midline cleft lip, Abnormal nasal morphology, Vertebral segmentation def... |
ORPHA:1104 |
Coffin-Siris Syndrome 1 |
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Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Spina bifida occulta, Dislocat... |
OMIM:135900 |
Focal Dermal Hypoplasia |
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Short phalanx of finger, Bifid ureter, Short 4th metacarpal, Chiari malformation, Delayed eruptio... |
OMIM:305600 |
Angelman Syndrome |
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Gastroesophageal reflux, Mandibular prognathia, Wide mouth, Widely spaced teeth, Abnormality of t... |
ORPHA:72 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Absent thumb, Bifid uvula, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis |
OMIM:619239 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
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Renal cyst, Neonatal death, Epiphyseal stippling, Wide nasal bridge |
OMIM:614870 |
Isolated Osteopoikilosis |
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Tarsal sclerosis, Abnormal long bone morphology, Abnormality of the kidney, Abnormal pelvis bone ... |
ORPHA:166119 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Enamel hypoplasia, High palate, Short stature, Ankyloglossia, Mitral valve prolapse, Pectus excav... |
OMIM:618874 |
Autosomal Dominant Robinow Syndrome |
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Camptodactyly of finger, Bifid tongue, Coxa valga, Wide nasal bridge, Micrognathia, Hip dislocati... |
ORPHA:3107 |
Dysosteosclerosis |
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Short diaphyses, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypoplastic vertebr... |
OMIM:224300 |
Van Maldergem Syndrome 1 |
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Irregular dentition, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Camptodactyly, Talipe... |
OMIM:601390 |
Seckel Syndrome 5 |
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11 pairs of ribs, Enamel hypoplasia, Retrognathia, Convex nasal ridge, High palate, Short stature... |
OMIM:613823 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
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Genu varum, Genu valgum, Coxa valga, Short stature, Hyperphosphaturia, Medullary nephrocalcinosis... |
OMIM:613312 |
Omodysplasia 1 |
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Short tibia, Anterolateral radial head dislocation, Wide nasal bridge, Micrognathia, Hypoplastic ... |
OMIM:258315 |
Floating-Harbor Syndrome |
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Ivory epiphyses of the distal phalanges of the hand, Congenital posterior urethral valve, Microdo... |
OMIM:136140 |
Scheie Syndrome |
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Rhinitis, Wide mouth, Everted lower lip vermilion, Aortic regurgitation, Mucopolysacchariduria, T... |
ORPHA:93474 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
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Ethmoidal encephalocele, Cleft upper lip, Depressed nasal ridge, Broad proximal phalanges of the ... |
OMIM:607597 |
Severe X-Linked Intellectual Disability, Gustavson Type |
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Triphalangeal thumb, Vesicoureteral reflux, Dilated fourth ventricle, Ventricular septal defect, ... |
ORPHA:3078 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
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Wide nose, High palate, Bronchiectasis, Micrognathia, Spinal canal stenosis, Recurrent sinusitis,... |
OMIM:618282 |
Nijmegen Breakage Syndrome |
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2-3 toe syndactyly, Bronchiectasis, Micrognathia, Malar prominence, Cleft palate, Anal stenosis, ... |
OMIM:251260 |
Nuchal Bleb, Familial |
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Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
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Right aortic arch with mirror image branching |
OMIM:107500 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Retrognathia, Patent foramen ovale, 2-3 toe syndactyly, Mandibular prognathia, Umbilical hernia, ... |
OMIM:618914 |
Mend Syndrome |
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Sacral dimple, 2-3 toe syndactyly, Polydactyly, Crossed fused renal ectopia, High palate, Kyphosi... |
OMIM:300960 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Wide nose, High palate, Small hand, Short stature, Micrognathia, Pyloric stenosis, Bifid uvula, S... |
ORPHA:96184 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
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Polydactyly, High palate, Short stature, Clinodactyly of the 5th finger, Upper limb asymmetry, De... |
ORPHA:231140 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing... |
OMIM:271520 |
Opsismodysplasia |
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Short phalanx of finger, Polyhydramnios, Severe platyspondyly, Hypoplastic vertebral bodies, Shor... |
OMIM:258480 |
Hypomandibular Faciocranial Dysostosis |
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Patent ductus arteriosus, Choanal stenosis, Micrognathia, Atrial septal defect, Hypoplasia of the... |
OMIM:241310 |
Acro-Renal-Ocular Syndrome |
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Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Postnatal growth retardation, Ve... |
ORPHA:959 |
Kaufman Oculocerebrofacial Syndrome |
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Micrognathia, Metatarsus adductus, Ovoid vertebral bodies, Smooth philtrum, Long palm, Ventricula... |
OMIM:244450 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Conical tooth, Non-midline cleft lip, Ventricular septal defect, Finger syndactyly, Delayed erupt... |
ORPHA:1071 |
16Q24.3 Microdeletion Syndrome |
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High palate, Ventricular septal defect, Kyphosis, Long philtrum, Wide mouth, Hip dysplasia, Micro... |
ORPHA:261250 |
Cleft Lip-Retinopathy Syndrome |
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Non-midline cleft lip |
ORPHA:1995 |
Woods Syndrome |
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Ventricular septal defect, Wide nasal bridge, 3-4 finger cutaneous syndactyly, Single transverse ... |
OMIM:615236 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Pancreatic cysts, Multiple small medullary renal cysts, Hepatic cysts, Enlarged kidney, Polycysti... |
OMIM:263200 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Short metatarsal, Limited elbow extension, Flattened femoral head, Hip dysplasia, Abnormal hip jo... |
ORPHA:1856 |
Postaxial Acrofacial Dysostosis |
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Camptodactyly of finger, Non-midline cleft lip, Finger syndactyly, Hypoplasia of the radius, Micr... |
ORPHA:246 |
Meester-Loeys Syndrome |
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Aortic root aneurysm, Abnormal sternum morphology, Pulmonary artery aneurysm, High palate, Ascend... |
OMIM:300989 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Fetal Encasement Syndrome |
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Bilateral trilobed lung, Upper limb undergrowth, Decreased fetal movement, Lower limb undergrowth... |
OMIM:613630 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Fibrous syngnathia, Non-midline cleft lip, Lip pit, Finger syndactyly, Toe syndactyly, Micrognath... |
ORPHA:1300 |
Acrocephalopolydactylous Dysplasia |
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Enlarged kidney, Cystic renal dysplasia, Hypoplastic colon, Pulmonary hypoplasia, Short nose, Sho... |
OMIM:200995 |
Orofacial Cleft 14 |
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Median cleft lip |
OMIM:615892 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Aortic root aneurysm, Pulmonary artery aneurysm, High palate, Pulmonary insufficiency, Convex nas... |
OMIM:614437 |
Maternal Uniparental Disomy Of Chromosome 2 |
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Preaxial hand polydactyly, Renal dysplasia, Clinodactyly of the 5th finger, C1-C2 vertebral abnor... |
ORPHA:96179 |
Thoracoabdominal Syndrome |
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Patent ductus arteriosus, Cleft upper lip, Anencephaly, Renal agenesis, Ectopia cordis, Pulmonary... |
OMIM:313850 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Right bundle branch block, Pulmonary insufficiency, Delayed eruption of primary... |
OMIM:619322 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
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Retrognathia, Fetal megacystis, Multicystic kidney dysplasia, Long philtrum, Finger syndactyly, T... |
ORPHA:73246 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Mandibular prognathia, Ventricular septal defect, Long phil... |
ORPHA:488632 |
Hypomandibular Faciocranial Dysostosis |
|
Patent ductus arteriosus, Polyhydramnios, Choanal stenosis, Aplasia/Hypoplasia of the tongue, Bif... |
ORPHA:1790 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hypoplastic tricuspid ... |
ORPHA:2255 |
8P11.2 Deletion Syndrome |
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Sacral dimple, Patent ductus arteriosus, High palate, Short stature, Micrognathia, Mitral valve p... |
ORPHA:251066 |
Holt-Oram Syndrome |
|
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Pectus excavatum, Phocom... |
OMIM:142900 |
Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Microdontia, Micrognathia, Clinodactyly of the 5th toe, Cl... |
ORPHA:221120 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Pneumothorax, Tapered finger, Atlantoaxial dislocation, Prominent nasolabial fold, Slender finger... |
ORPHA:2953 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Wide mouth, Short stature, Atrial septal defect, Pectus excavatum, Hyp... |
OMIM:615279 |
Fraser Syndrome |
|
Bifid tongue, Midline nasal groove, Ectopic anus, Wide nasal bridge, Toe syndactyly, Pulmonary hy... |
ORPHA:2052 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Pectus excavatum, Broad hallux, Short hallux, Short neck, Postaxial... |
OMIM:304120 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Abnormal thorax morphology, Pleural effusion, Abnormal form of the vertebra... |
ORPHA:464329 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Atrioventricular canal defect, Neoplasm of the tongue, Retrognathia, Pat... |
ORPHA:3047 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Tapered finger, Tapered toe, Renal dysplasia, Elbow flexion c... |
OMIM:608836 |
Gillespie Syndrome |
|
Cerebellar atrophy, Truncus arteriosus, Cerebellar hypoplasia |
OMIM:206700 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Supernumerary ribs, Submucous cleft hard palate, Pectus excavatum, Anteverted nares... |
OMIM:619122 |
15Q14 Microdeletion Syndrome |
|
Convex nasal ridge, Ventricular septal defect, Kyphosis, Long philtrum, Short stature, Short phil... |
ORPHA:261190 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Micrognathia, Hypoplasia of proximal radius, Glossoptosis, Aortic root aneurysm,... |
ORPHA:444077 |
Noonan Syndrome 1 |
|
Micrognathia, Hypertrophic cardiomyopathy, Short neck, Radial deviation of finger, Cleft palate, ... |
OMIM:163950 |
Aicardi Syndrome |
|
Chiari malformation, Butterfly vertebrae, Hepatoblastoma, Cleft palate, Postnatal growth retardat... |
OMIM:304050 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad thumb, Smooth ph... |
OMIM:614526 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Radial club hand, Abnormal cerebral vascular morphology, Abnormal morphology of the radius, Media... |
ORPHA:2165 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Cleft soft palate, Celiac disease, Pulmonary artery stenosis, Hemateme... |
OMIM:301068 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tapered finger, Wide nasal bridge, Camptodactyly, Overlapping toe, Smooth philtrum, Postnatal gro... |
ORPHA:487796 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Absent nares, Polyhydramnios, Encephalocele, Abnormal cardiac septum morphology, Hypoplasia of th... |
ORPHA:2166 |
Treacher-Collins Syndrome |
|
Wide nasal bridge, Micrognathia, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal dental enam... |
ORPHA:861 |
X-Linked Mandibulofacial Dysostosis |
|
High palate, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Micrognathia, Ab... |
ORPHA:1131 |
Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognat... |
OMIM:227270 |
Alazami Syndrome |
|
Wide nose, Wide mouth, Widely spaced teeth, Slender long bone, Short philtrum, Atrial septal defe... |
ORPHA:319671 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Polyhydramnios, Tapered finger, Micrognathia, Pectus excavatum, Smooth philtrum, Slender finger, ... |
OMIM:619841 |
Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Elbow flexion contracture, Hypoplastic vertebral b... |
OMIM:252940 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Short stature, Metaphyse... |
OMIM:250460 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebellar atrophy, Nonimmune hydrops fetalis, Dysphagia |
ORPHA:477774 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation |
OMIM:614651 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... |
OMIM:615382 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Gastroesophageal reflux, Ventricular septal defect, Hip dysplasia, Microgn... |
ORPHA:494344 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Proboscis, Median... |
OMIM:619895 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Ulnar devi... |
ORPHA:1529 |
Cardiofaciocutaneous Syndrome |
|
Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Deep palmar crease, Genu valgum, Lymph... |
ORPHA:1340 |
Hurler Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Narrow pelvis bone, Angina pectoris, Everted lower li... |
ORPHA:93473 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Pierre-Robin sequence, Kyphosis, Micrognathia, Mitral valve prolapse, Bifid uvula... |
OMIM:108300 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Depressed nasal ridge, Renal agenesis, Pulmonary hypoplasia, Abnormal sacr... |
ORPHA:1848 |
Buratti-Harel Syndrome |
|
Gastroesophageal reflux, High palate, Dilation of Virchow-Robin spaces, Velopharyngeal insufficie... |
OMIM:619314 |
Hartnup Disorder |
|
Neutral hyperaminoaciduria, Glossitis, Short stature |
OMIM:234500 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Wide nasal bridge, Microdontia, Micrognathia, Bifid uvula, Hip dislocation, Campt... |
OMIM:613458 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Abnormality of the tarsal bones, Oligodontia, Ano... |
ORPHA:90650 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... |
OMIM:309350 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology,... |
ORPHA:93307 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Tapered finger, Overlapping toe, Cleft palate, Abnormal morphology of the great vessels, Congenit... |
ORPHA:488642 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, S... |
OMIM:108720 |
Frontometaphyseal Dysplasia |
|
Short diaphyses, Short phalanx of finger, Camptodactyly of finger, Wrist flexion contracture, Chi... |
ORPHA:1826 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Aortic arch aneurysm, Common carotid a... |
OMIM:613834 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Convex nasal ridge, Kyphosis, Short stature, Fused cervical vertebrae, Abnormality... |
ORPHA:2522 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Short neck, Talipes equinovarus, Short ... |
OMIM:620076 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Bifid uvula, Overlapping toe, Everted lower lip vermilion, Short neck, Alveolar rid... |
ORPHA:177907 |
Farber Disease |
|
Short toe, Abnormal sternum morphology, Hydrops fetalis, Nodular pattern on pulmonary HRCT, Cherr... |
ORPHA:333 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Polyhydramnios, Pericardial effusion, Hyperphosphaturia, Fetal distress,... |
ORPHA:51608 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Chiari malformation, Cerebellar hypoplas... |
ORPHA:276413 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Pneumothorax, Bifid uvula, Camptodactyly, Ascending a... |
OMIM:613795 |
Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Rhizomelia, Short stature, Widely spaced teeth, Stage 5 chronic kidney diseas... |
OMIM:614099 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Gingivitis, Palmoplantar cutis gyrata, Wide nasal bridge, Short stature, Kyphoscoliosis, Narrow m... |
ORPHA:75496 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Short long bone, Lower-limb metaphyseal irregularity, Enlarged metaphyses,... |
OMIM:618728 |
Reactive Arthritis |
|
Abnormal pleura morphology, Recurrent aphthous stomatitis, Recurrent urinary tract infections, Pe... |
ORPHA:29207 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Delayed eruption of teeth, Epiphyseal stippling, Mild postnatal growth r... |
OMIM:101800 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Polyhydramnios, Fetal akinesia sequence, Nonimmune hydrops fetalis, Dilated cardiomyopathy, Conge... |
ORPHA:367 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Edema, Olig... |
ORPHA:1054 |
Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Vesicoureteral reflux, Sh... |
ORPHA:2911 |
Distal Trisomy 5Q |
|
Absent thumb, Ventricular septal defect, Long philtrum, Short stature, Hypoplasia of the radius, ... |
ORPHA:96097 |
Free Sialic Acid Storage Disease |
|
Abnormality of the upper limb, Hydrops fetalis, Nephrotic syndrome, Ascites, Proteinuria, Recurre... |
ORPHA:834 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Abnormal cardiac septum morphology, Wide nasal bridge, Micrognathia, Overlapping toe, Postnatal g... |
OMIM:613026 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Spina bifida occulta, Cleft pal... |
OMIM:151050 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal defect, Short stature, Pe... |
ORPHA:52055 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Patent ductus arteriosus, Cleft upper lip, Glomerulopathy, Renal du... |
ORPHA:33001 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Thick upper lip vermilion, Polyhydramnios, Wide mouth, Wide nasal bridge, Thick lower lip vermili... |
OMIM:611087 |
Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Abnormal thorax morphology, Widening of cervical spinal canal, Pulmonary hypoplasia... |
OMIM:253310 |
Hydrolethalus Syndrome 2 |
|
Micrognathia, Preaxial foot polydactyly, Anencephaly, Postaxial foot polydactyly, Postaxial hand ... |
OMIM:614120 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, Camptodactyly, Broad hallux, Smooth philtrum, Cleft palate, Choanal atresia, Vent... |
OMIM:301044 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Abnormal tongue physiology, Wide mouth, Hypospadias, Narrow mouth, Thin vermilion bo... |
ORPHA:544254 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Pectus excavatum, Short neck, Abnormal columella morphology... |
ORPHA:96121 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Wide mouth, Rhizomelia, Microgn... |
ORPHA:163966 |
Premature Aging Syndrome, Penttinen Type |
|
Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption of teeth, Micrognathia, Palmoplan... |
OMIM:601812 |
Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Secundum atrial septal defect, Pectus excavatum, Short hallux, Dy... |
OMIM:616268 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Palmoplantar hyperkeratosis, Pectu... |
OMIM:619127 |
Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Fetal distress, Decreased fet... |
ORPHA:292 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... |
OMIM:609616 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Abnormality of the pulmonary ... |
ORPHA:290 |
Wiedemann-Rautenstrauch Syndrome |
|
Dilatation of renal calices, Camptodactyly of finger, 2-3 toe syndactyly, Convex nasal ridge, Sho... |
ORPHA:3455 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Patent ductus arterio... |
ORPHA:2547 |
White-Sutton Syndrome |
|
Micrognathia, Bifid uvula, Short neck, Hypoplastic cervical vertebrae, Depressed nasal tip, Cleft... |
OMIM:616364 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Lobulated tongue, Deviation of the hallux, Dilated fourth ventricle, Bi... |
ORPHA:434179 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Polyhydramnios, Wide mouth, Congestive heart failure, Atrial septal defect, Tented upper lip verm... |
ORPHA:500533 |
Sponastrime Dysplasia |
|
Hip subluxation, Aplasia of the nasal bone, Chiari malformation, Microdontia, Flat capital femora... |
ORPHA:93357 |
Warsaw Breakage Syndrome |
|
2-3 toe syndactyly, High palate, Ventricular septal defect, Wide mouth, Clinodactyly of the 5th f... |
OMIM:613398 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin... |
ORPHA:896 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Ectopic anus, Aplasia of posterior communicating artery, Pectus excavatum, Spina bifida occulta, ... |
OMIM:613686 |
Fraser Syndrome 3 |
|
Ureteral agenesis, Short toe, Wide nose, Hypoplasia of the bladder, Convex nasal ridge, Bilateral... |
OMIM:617667 |
Alagille Syndrome 1 |
|
Renal dysplasia, Hepatocellular carcinoma, Peripheral pulmonary artery stenosis, Abnormal rib mor... |
OMIM:118450 |
Isolated Dandy-Walker Malformation |
|
Cleft palate, Tetralogy of Fallot, Encephalocele, Dandy-Walker malformation |
ORPHA:217 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis, Preecla... |
ORPHA:163596 |
Distal Monosomy 6P |
|
Underdeveloped nasal alae, Wide nose, Short foot, Vertebral segmentation defect, Micrognathia, Sh... |
ORPHA:96125 |
Acromelic Frontonasal Dysplasia |
|
Retrocerebellar cyst, Aplasia/Hypoplasia of the tibia, Meningocele, Patellar hypoplasia, Encephal... |
ORPHA:1827 |
Joubert Syndrome 37 |
|
Wide nose, High palate, Wide nasal bridge, Short stature, Lumbar hyperlordosis, Cerebellar vermis... |
OMIM:619185 |
Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Nephroblastoma, Long philtrum, Kyph... |
ORPHA:77301 |
Tetraamelia Syndrome 1 |
|
Peripheral pulmonary vessel aplasia, Urethral atresia, Cleft upper lip, Single naris, Micrognathi... |
OMIM:273395 |
Renal Hypodysplasia/Aplasia 1 |
|
Retrognathia, Renal dysplasia, Bilateral renal agenesis, Pulmonary hypoplasia, Hypertension, Olig... |
OMIM:191830 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand poly... |
ORPHA:2091 |
Kohlschutter-Tonz Syndrome-Like |
|
2-3 toe syndactyly, Delayed eruption of teeth, Smooth philtrum, Dysphagia, Amelogenesis imperfect... |
OMIM:619229 |
Otopalatodigital Syndrome, Type I |
|
Coxa valga, Abnormality of the fifth metatarsal bone, Short 4th metacarpal, Selective tooth agene... |
OMIM:311300 |
Costello Syndrome |
|
Polyhydramnios, Pneumothorax, Micrognathia, Hypertrophic cardiomyopathy, Short neck, Deep palmar ... |
OMIM:218040 |
Slc35A2-Cdg |
|
Short tibia, Hip subluxation, Camptodactyly of finger, Coxa valga, Prenatal maternal abnormality,... |
ORPHA:356961 |
Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Short toe, Ventricular septal defect, Long philtrum, Finger syndactyly,... |
ORPHA:1519 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Renal duplication, Ventricular septal defect, Short stature, Micrognath... |
OMIM:613309 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Enlarged thorax, Aortic arch aneurysm, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celi... |
ORPHA:99413 |
Chops Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Gastroesophageal reflux, A... |
OMIM:616368 |
Mosaic Monosomy X |
|
Enlarged thorax, Aortic arch aneurysm, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celi... |
ORPHA:99228 |
Monosomy X |
|
Enlarged thorax, Aortic arch aneurysm, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celi... |
ORPHA:99226 |
Turner Syndrome |
|
Enlarged thorax, Aortic arch aneurysm, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celi... |
ORPHA:881 |
Arthrogryposis, Distal, Type 2B1 |
|
Camptodactyly of finger, Absent phalangeal crease, Mandibular prognathia, High palate, Long philt... |
OMIM:601680 |
Peutz-Jeghers Syndrome |
|
Esophageal neoplasm, Biliary tract neoplasm, Abnormality of the ureter, Intestinal obstruction, E... |
ORPHA:2869 |
Osteolysis Syndrome, Recessive |
|
Short stature, Elbow flexion contracture, Metacarpal osteolysis, Hypoplasia of the maxilla, Dista... |
OMIM:259610 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Hand clenching, Protruding tongue |
OMIM:619580 |
49,Xxxxy Syndrome |
|
Coxa valga, Delayed eruption of teeth, Renal dysplasia, Taurodontia, Hip dislocation, Elbow dislo... |
ORPHA:96264 |
Microform Holoprosencephaly |
|
Short stature, Maternal diabetes, Hypoplasia of penis, Short philtrum, Renal agenesis, Choanal at... |
ORPHA:280200 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Patent ductus arteriosus after birth at term, Ischemic stroke, Chiari malformation,... |
ORPHA:500150 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Vesicoureteral reflux, Absent thumb, Patent ductus arteriosus, Polyhydramnios, Pla... |
OMIM:603467 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Wide nasal bridge, Micrognathia, Camptodactyly, Broad hallux, Absent uvula, Gi... |
OMIM:618529 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2 |
|
Bilateral cleft lip, Pectus excavatum, Short neck, Thoracic scoliosis, Shield chest |
OMIM:616994 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Selective tooth agenesis, Toe syndactyly, Microdontia, Renal dysplasia, Depressed nasal tip, Clef... |
OMIM:129900 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Tapered finger, Achalasia, Micrognathia, Hip dislocation, Delayed epiphyseal ossification, Genu v... |
OMIM:616007 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Respiratory tract infection, Tapered finger, High palate, Wide nasal bridge, ... |
OMIM:218000 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Prominent nose, Long philtrum, Wide mouth, Abn... |
ORPHA:1292 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Retrognathia, Mandibular prognathia, Tapered finger, Tricuspid regurgitation, Wide mouth, Right b... |
OMIM:619576 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Irregular tarsal bones, Short neck, Narrow greater sc... |
OMIM:250220 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular hypertrophy, Clinodactyly of t... |
OMIM:618619 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Telangiectasia, Ventricular septal defect, Wide m... |
OMIM:606003 |
Renpenning Syndrome 1 |
|
Wide nasal bridge, Micrognathia, Camptodactyly, Pectus excavatum, Synostosis of the proximal phal... |
OMIM:309500 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Abnormal sternum morphology, Long philtrum, Thick lower lip vermilion, Thin upper lip vermilion, ... |
ORPHA:137634 |
Isolated Polycystic Liver Disease |
|
Gastroesophageal reflux, Back pain, Vascular dilatation, Multiple renal cysts, Gastrointestinal h... |
ORPHA:2924 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Left ventricular noncompaction, Submucous cleft soft palate, Synostosis of the pro... |
OMIM:300967 |
Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Gastroesophageal reflux, Cerebellar hemisphere hypoplasia, Ventricular ... |
OMIM:619909 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Ventricular septal defect, Short stature, Delayed eruption of teet... |
ORPHA:1782 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Selective tooth agenesis, Toe syndactyly, Microdontia, Renal dysplasia, Depressed nasal tip, Clef... |
OMIM:604292 |
Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Pedal edema, Bifid ureter, Ventricular septal defect, Renal dysplasia, Renal malr... |
OMIM:617107 |
Nestor-Guillermo Progeria Syndrome |
|
Convex nasal ridge, Sinus tachycardia, Micrognathia, Atherosclerosis, Rib osteolysis, Mandibular ... |
OMIM:614008 |
Mitral Valve Prolapse 1 |
|
High palate, Mitral valve prolapse, Pectus excavatum, Mitral regurgitation, Reversed usual verteb... |
OMIM:157700 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Prominence of the zygomatic bone, Everted lower lip vermilion, Cleft palate, Apla... |
ORPHA:364577 |
Meier-Gorlin Syndrome 5 |
|
Gastroesophageal reflux, Long philtrum, Patellar aplasia, Birth length less than 3rd percentile, ... |
OMIM:613805 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly of the 5... |
OMIM:620075 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hip dysplasia, Unilateral renal agenesis, Deviation of the 5th finger, Pectus excavatum, Broad ha... |
OMIM:616362 |
Juvenile Polyposis Of Infancy |
|
Broad phalanx of the toes, Patent ductus arteriosus, Short stature, High, narrow palate, Intussus... |
ORPHA:79076 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Vertebral fusion, Hip contracture, Ventricular septal defect, Short stature, Cutaneous finger syn... |
OMIM:178110 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hepatoblastoma, Thickened cortex of long bones, Short neck, Postaxial hand polydactyly, Talipes e... |
OMIM:269150 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular escape rhythm, Left atrial enlargement, Int... |
OMIM:616201 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Colonic diverticula, Polycystic kidney dysplasia, Mitral valve prolapse, Hypertens... |
OMIM:173900 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Neonatal short-limb short stature, Advanced ossification of carpal bones, Encephalocele, Joint co... |
OMIM:224400 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Genu valgum, Tapered finger, Ventricular septal defect, Macrodontia of perma... |
OMIM:616202 |
Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Kyphosis, Short stature, Microdontia, Synostosis of carpal bones, Mi... |
ORPHA:3191 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, Sacral dimple,... |
OMIM:616331 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Low 1-minute APGA... |
ORPHA:99125 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Abnormality of the upper limb, Multicystic kidney dysplasia, Finger syn... |
ORPHA:1556 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Pierre-Robin sequence, High palate, Hallux valgus, Finger joint hypermobili... |
OMIM:617557 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Pyloric stenosis, Hypospadias... |
OMIM:218350 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Rectovaginal fistula, Bulbous nose, Anal atresia, Tracheoesophageal fi... |
ORPHA:1780 |
Al-Raqad Syndrome |
|
Atrial septal defect, Short nose, Thin upper lip vermilion, Narrow mouth, Sandal gap, Brachydactyly |
OMIM:616459 |
Ctcf-Related Neurodevelopmental Disorder |
|
2-3 toe syndactyly, Microdontia, Fetal distress, Cleft palate, Sacral dimple, Pulmonary hemorrhag... |
ORPHA:363611 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Crowded maxillary incisors, Hallux valgus, Hypoplasia of the maxilla, Cone... |
ORPHA:397973 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Methimazole Embryofetopathy |
|
Polyhydramnios, Abnormal aortic morphology, Ventricular septal defect, Esophageal atresia, Coarct... |
ORPHA:1923 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Widely spaced teeth, Heart murmur, Microdontia, Atrial septal de... |
ORPHA:2728 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
2-3 toe syndactyly, Complete duplication of thumb phalanx, Long philtrum, Secundum atrial septal ... |
OMIM:619121 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis, Aplasia of the ulna, Hand oligodactyly, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Patent foramen ovale, Aminoaciduria, Ventricular septal defect, Renal tubu... |
OMIM:208085 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, Mandibular prognathia, High palate, Finger syndactyly, Humeroradial ... |
OMIM:101600 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Wide mouth, Deep philtrum, Mitral stenosis, Renal dysplasia, Short stat... |
OMIM:617260 |
Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Microdontia, Micr... |
OMIM:190350 |
Gapo Syndrome |
|
Delayed eruption of teeth, Abnormal cerebral vascular morphology, Micrognathia, Atherosclerosis, ... |
ORPHA:2067 |
Bilateral Perisylvian Polymicrogyria |
|
Gastroesophageal reflux, Cerebellar dysplasia, Micrognathia, Pseudobulbar paralysis, Choanal atre... |
ORPHA:98889 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, Abnormality of dental... |
OMIM:257850 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormal long bone morphology, Hypoplastic ilia, Small epiphyses, A... |
ORPHA:140976 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Vesicoureteral reflux, Absent thumb, Ventricular septal defect, Short 1st m... |
OMIM:609053 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Meningocele, Multicystic kidney dysplasia, Short stature, Clinodactyly... |
ORPHA:2031 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Urethral stricture, Abnormality of the bladder, Dehydration, Pneumonia, Mitten defo... |
ORPHA:79404 |
Lateral Meningocele Syndrome |
|
Meningocele, Hyperlordosis, High palate, Ventricular septal defect, Kyphosis, Chiari malformation... |
ORPHA:2789 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal dysplasia, Anal atresia, Cervical ribs,... |
OMIM:601389 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Hypoplasia of the pons, Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Convex nasal ridge, Hallux valgus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Cam... |
ORPHA:261537 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Pectus excavatum, Ovoid vertebral bodies, Limited elbow extension, Narrow gr... |
OMIM:608728 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Cerebellar hypoplasia, Cystic renal dysplasia, Ectopic kidney, Neonata... |
OMIM:613730 |
Carpenter Syndrome |
|
Patent ductus arteriosus, Polydactyly, Genu valgum, Umbilical hernia, Finger syndactyly, Toe synd... |
ORPHA:65759 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Wide nasal bridge, Microdontia, Hypodontia, Short philtrum, Everted lower ... |
OMIM:601499 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Patent foramen ovale, Genu valgum, V... |
ORPHA:363700 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
Monosomy 18P |
|
Enlarged thorax, Wide nasal bridge, Lymphedema, Short stature, Hypodontia, Micrognathia, Short ph... |
ORPHA:1598 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... |
OMIM:267010 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Pulmonary arterial hypertension, Abnormal sternum morphology, Ventricul... |
ORPHA:2519 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Hypoplasia of the maxilla, Broad nasal tip, Short distal phalanx of finger, Abnorm... |
ORPHA:2776 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Narrow palate, Finger syndactyly, Ectopic... |
ORPHA:87 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Shoulder dislocation, Hallux valgus, Pericardial effusion, Micrognathia, Hip dislocation, Elbow d... |
ORPHA:536532 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertension, Oligohydramnios, Arrhythmia, I... |
OMIM:617021 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Absent sternal ossification, Talipes equinovarus, Aplasia/Hypoplasia of the patella... |
OMIM:613803 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hip dysplasia, Clinodactyly of the 5th fi... |
ORPHA:3375 |
Werner Syndrome |
|
Convex nasal ridge, Small hand, Short stature, Abnormal cerebral vascular morphology, Atheroscler... |
ORPHA:902 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Metaphyseal irregularity, High palate, Rhizomelia, ... |
OMIM:618162 |
Parietal Foramina 1 |
|
Cleft palate, Cleft upper lip, Encephalocele |
OMIM:168500 |
Sheldon-Hall Syndrome |
|
High palate, Wide nasal bridge, Short stature, Ulnar deviation of the wrist, Vertebral segmentati... |
ORPHA:1147 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Long philtrum, Talipes equinovarus, Ulnar deviati... |
ORPHA:1101 |
Campomelic Dysplasia |
|
Hypoplastic inferior ilia, Micrognathia, Hip dislocation, Short neck, Cleft palate, Talipes equin... |
ORPHA:140 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Facial telangiectasia, Hallux valgus, Elbow flexion contracture, Camptod... |
OMIM:602782 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Thoracic hypoplasia, Short long bone, Camptodactyly, Congestive ... |
OMIM:619751 |
Kabuki Syndrome |
|
Vertebral clefting, Lip pit, Short 5th finger, Abnormal cardiac septum morphology, Microdontia, B... |
ORPHA:2322 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Preaxial foot po... |
ORPHA:380 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar kyphosis, Hypertrophic cardiomyopathy, Short neck, Deep palmar crease, Heavy proteinuria, ... |
ORPHA:505248 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Micrognathia, Ovarian cyst, Short palm, Multicystic kidney dysplasia, ... |
OMIM:614527 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Epiphyseal stippling, Vascular dilatation, Wide nasal bridge |
OMIM:614859 |
Hypochondroplasia |
|
Widened interpedicular distance, Genu varum, Short femoral neck, Short long bone, Brachydactyly, ... |
OMIM:146000 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Patent foramen ovale, 3-Methylglutaconic aciduria, Polydactyly, Gastroe... |
ORPHA:17 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Polyhydramnios, Short metacarpal, Cerebellar hypoplasia, Epiphyseal stippling, Pulmonary hypoplas... |
ORPHA:86822 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Disprop... |
ORPHA:239 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect |
DECIPHER:39 |
Jacobsen Syndrome |
|
Ventricular septal defect, Micrognathia, Pyloric stenosis, Missing ribs, Clinodactyly of the 5th ... |
OMIM:147791 |
1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, High palate, Abnormal cardiac septum morphology, Short stature, Micrognath... |
ORPHA:238769 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Short thorax, Pulmonary hypoplasia |
OMIM:601809 |
Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, High palate, Ventricular septal d... |
OMIM:609942 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Bifid ureter, Camptodactyly, Metatarsus adductus, Spina bifi... |
ORPHA:500095 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Keratan sulfate excretion in urine, Short neck, Cleft palate, Dispropo... |
ORPHA:485 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Delayed eruption of teeth, Renal dysplasia, Micrognathia, Bifid uvula, Short femu... |
OMIM:300990 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Trichohepatoneurodevelopmental Syndrome |
|
Polyhydramnios, Microdontia, Hip dislocation, Pectus excavatum, Overlapping toe, Fibular bowing, ... |
OMIM:618268 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Renal dysplasia, Microdontia, Micrognathia, Postnatal growth retardation, Narrow mouth, Narrow jo... |
ORPHA:96182 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Mandibular prognathia, Kyphosis, Short stature, Hypodontia, Abnormality of the ... |
ORPHA:2916 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Gastroesophageal reflux, Ventricular septal defect, Increased size of n... |
OMIM:619769 |
Branchial Arch Syndrome, X-Linked |
|
High palate, Pulmonic stenosis, Short stature, High, narrow palate |
OMIM:301950 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Protruding tongue, Aspiration pneumonia |
ORPHA:53351 |
Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Convex nasal ridge, Renal dysplasia, Aganglioni... |
ORPHA:85284 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Ventricular septal defect, Natal tooth, Short stature, Micrognathia... |
OMIM:616901 |
Focal Facial Dermal Dysplasia Type Iv |
|
Cleft palate, Cleft upper lip, Intracranial hemorrhage |
ORPHA:398189 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Thoracolumbar scoliosis, Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal ... |
OMIM:300472 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Clinodactyly of the 5th finger, Pectus excav... |
OMIM:619910 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Postaxial foot polydactyly, ... |
OMIM:615981 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Dandy-Walker malformation, Slender finger, Cleft palate, Open mouth, T... |
OMIM:147800 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Short stature, Metaphy... |
OMIM:608154 |
Joubert Syndrome 7 |
|
Genu valgum, Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Postaxial hand polydactyl... |
OMIM:611560 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Short nose, Hypoplastic ischia, Hypospadias, Depressed nasal bridge, Intrauterine gr... |
OMIM:616910 |
Cronkhite-Canada Syndrome |
|
Stomach cancer, Tapered finger, Lymphedema, Malabsorption, Gastrointestinal carcinoma, Intestinal... |
ORPHA:2930 |
D-Bifunctional Protein Deficiency |
|
Retrognathia, Polyhydramnios, High palate, Long philtrum, Thoracic hypoplasia, Micrognathia, Pect... |
OMIM:261515 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly |
OMIM:618955 |
Megalencephaly |
|
Genu valgum, Wide nasal bridge, Atrial septal defect, Long penis, Short neck |
ORPHA:2477 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Neurogenic bladder, Arteriovenous malformation, Cerebral arter... |
ORPHA:137667 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Aortic root aneurysm, Shoulder dislocation, Carotid artery stenosis, High palate, Hallux valgus, ... |
OMIM:618000 |
Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Spinal rigidity, Micrognathia, Pectus excavatum, Mitral regurgi... |
OMIM:617258 |
Mowat-Wilson Syndrome |
|
Tapered finger, Hallux valgus, Abnormal cardiac septum morphology, Delayed eruption of teeth, Wid... |
ORPHA:2152 |
Systemic Sclerosis |
|
Osteolytic defects of the phalanges of the hand, Abnormal large intestine morphology, Abnormal ph... |
ORPHA:90291 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, High palate, Deep philtrum, Short stature, Recurrent pneumonia, Depressed ... |
OMIM:619750 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, High palate, Absent forearm, Wide nasal bridg... |
OMIM:201170 |
Kawasaki Disease |
|
Abnormal pulmonary interstitial morphology, Ascending tubular aorta aneurysm, Abnormal heart valv... |
ORPHA:2331 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of penis, Intestinal malrotation,... |
ORPHA:2328 |
Acrocephalopolydactyly |
|
Thoracic hypoplasia, Depressed nasal ridge, Short long bone, Short nose, Limb undergrowth, Short ... |
ORPHA:221054 |
C Syndrome |
|
Polyhydramnios, Abnormality of the anus, Toe syndactyly, Micrognathia, Pectus excavatum, Dislocat... |
ORPHA:1308 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Wide nasal bridge, Pulmonary lymphangiectasia, Mild postnatal growth... |
OMIM:265300 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, Renal dysplasia, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatars... |
OMIM:107480 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Vesicoureteral reflux, Dilatation of the ventricular cavity, Pneumothorax, Vascular dilatation, A... |
ORPHA:90349 |
Galloway-Mowat Syndrome 3 |
|
High palate, Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Micrognathia, Hip... |
OMIM:617729 |
Kabuki Syndrome 1 |
|
Short 5th finger, Recurrent aspiration pneumonia, Wide nasal bridge, Micrognathia, Anoperineal fi... |
OMIM:147920 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect, Esophageal atresia, Hypopl... |
ORPHA:77298 |
Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Gingivitis, Glomerulopathy, Delayed eruption of teeth, Micrognathia, Taurodontia, ... |
ORPHA:534 |
Nephronophthisis 15 |
|
Nephronophthisis, Polydactyly, Cerebellar vermis hypoplasia |
OMIM:614845 |
Anencephaly 2 |
|
Cleft maxillary alveolar ridge, Anencephaly, Bifid nose, Median cleft lip, Median cleft palate |
OMIM:619452 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Pierre-Robin sequence, Ventricular septal ... |
OMIM:614921 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Hydrops fetalis, Prenatal maternal abnormality, Dilated cardiomyopathy, Congestive heart failure,... |
OMIM:609015 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Cerebellar hypoplasia, Atrial septal defect, Situs inversus totalis, Tetralogy of Fallot, Agenesi... |
OMIM:601322 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Convex nasal ridge, Hallux valgus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Cam... |
ORPHA:261552 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Heart murmur, Bicuspid aortic valve, Abnormal left ventricular outflow trac... |
ORPHA:402075 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Cerebellar cyst, Hip dislocation, Cerebellar atrophy, Growth delay, Tongue fascic... |
OMIM:614678 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Wide nasal bridge, Micrognathia, Bifid uvula, Pectus excavatum, Short neck, Hip dysplasia, Bulbou... |
ORPHA:247262 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Choanal stenosis, Pierre-Robin sequence, Cleft soft palate, Secundum atrial septal defect, Fetal ... |
OMIM:620183 |
Spondyloepiphyseal Dysplasia Tarda |
|
Flattened femoral head, Short neck, Decreased cervical spine mobility, Cleft palate, Disproportio... |
ORPHA:93284 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Dispropo... |
ORPHA:93315 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Gastroesophageal reflux, Ventricular septal defect, Recurrent aspiration pneumonia, Cerebellar cy... |
ORPHA:79243 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Polyhydramnios, Enterocolitis, Ventricular septal defect, Jejunal atresia, Duo... |
OMIM:243150 |
Pearson Syndrome |
|
Hydrops fetalis, Glycosuria, Corneal stromal edema, Steatorrhea, Lacticaciduria, Renal cyst, Medi... |
ORPHA:699 |
Neonatal Marfan Syndrome |
|
Aortic root aneurysm, Enlarged thorax, Ascending tubular aorta aneurysm, Tricuspid regurgitation,... |
ORPHA:284979 |
Joubert Syndrome 16 |
|
Polydactyly, Encephalocele, Renal cyst, Nephronophthisis, Dandy-Walker malformation |
OMIM:614465 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Short middle phalanx of the 2nd finger, Micrognat... |
OMIM:119600 |
Mckusick-Kaufman Syndrome |
|
Pedal edema, Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacol... |
OMIM:236700 |
Ramos-Arroyo Syndrome |
|
Patent ductus arteriosus, Choanal stenosis, Long philtrum, Aganglionic megacolon, Atrial septal d... |
ORPHA:1051 |
15q26 overgrowth syndrome |
|
Camptodactyly of finger, Tapered finger, Wide nasal bridge, Micrognathia, Duplication of renal pe... |
DECIPHER:81 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, High palate, Cystathioninuria, Short stature, Glossitis, Atrial septal ... |
OMIM:277380 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Spinal dysraphism, Short stature, Absence of the sacrum, Mitral stenosis, ... |
OMIM:617660 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatocellular carcinoma, Renal cyst, Hypertrophic ... |
OMIM:619902 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Short stature, Atrial septal defect, Short metatarsal, Type E brachydactyly |
OMIM:113301 |
Craniolenticulosutural Dysplasia |
|
Wide nose, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Prominent nasal bri... |
ORPHA:50814 |
Meckel Syndrome, Type 3 |
|
Polydactyly, Multicystic kidney dysplasia, Postaxial foot polydactyly, Postaxial hand polydactyly... |
OMIM:607361 |
Coronary Arterial Fistula |
|
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... |
ORPHA:2041 |
Marshall Syndrome |
|
Thick upper lip vermilion, Coxa valga, Micrognathia, Bifid uvula, Irregular distal femoral epiphy... |
OMIM:154780 |
Acrocraniofacial Dysostosis |
|
Tapered finger, Coxa valga, Micrognathia, Flared iliac wing, Pectus excavatum, Spina bifida occul... |
ORPHA:949 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Pseudobulbar paralysis, Tricuspid regurgitation, Patent foramen ovale, Abnormal ca... |
ORPHA:466791 |
Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Ventricular septal defect, Short nose, Intestin... |
OMIM:222448 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... |
ORPHA:97214 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Glossitis, Stomatitis, Abnormal heart morphology, Intraventricular hem... |
ORPHA:79284 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Wide nasal bridge, Delayed eruption of teeth, Long penis, Spina bifida occu... |
OMIM:135500 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, High palate, Ventricular septal defect, Long philtrum, Bicuspid aortic valv... |
ORPHA:457279 |
Acrofrontofacionasal Dysostosis 1 |
|
Cleft upper lip, Mandibular prognathia, Wide mouth, Short metacarpal, Wide nasal bridge, Short st... |
OMIM:201180 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Hip dislocation, Pectus excavatum, Short neck, Cleft palate, Flattened... |
OMIM:156550 |
Igg4-Related Aortitis |
|
Ascending tubular aorta aneurysm, Low back pain, Abnormal common carotid artery morphology, Dilat... |
ORPHA:449400 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Retinal telangiectasia, Dysphagia, Scapular winging, Shoulder girdle muscle weakness |
OMIM:158900 |
Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur... |
ORPHA:99095 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Abnormal thorax morphology, Epiphyseal stippling, Short neck, Bilateral talipes e... |
OMIM:302960 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Pulmonary arterial hypertension, Perimembranous v... |
ORPHA:1457 |
Meckel Syndrome |
|
Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongu... |
ORPHA:564 |
Macs Syndrome |
|
Irregular dentition, Recurrent aphthous stomatitis, High palate, Long philtrum, Bronchiectasis, D... |
OMIM:613075 |
Hand-Foot-Genital Syndrome |
|
Sacral dimple, Vesicoureteral reflux, Ventricular septal defect, Short 1st metacarpal, Short firs... |
ORPHA:2438 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Hyperlordosis, High palate, Long philtrum, Avascular necrosis of the cap... |
ORPHA:77258 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Arachnodactyly, Short stature, Micrognathia, Swan neck-like deformities of t... |
OMIM:615656 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hip subluxation, Patent foramen ovale, Patent ductus arteriosus, Gastroesophageal reflux, High pa... |
OMIM:613457 |
3Q29 Microduplication Syndrome |
|
High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Toe syndactyly, Wide nasal b... |
ORPHA:251038 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Polyhydramnios, Aplasia/Hypoplasia involving the nose, Mand... |
ORPHA:990 |
Gaucher Disease |
|
Abnormal pericardium morphology, Pulmonary arterial hypertension, Abnormal pulmonary interstitial... |
ORPHA:355 |
Solar Urticaria |
|
Abnormal lip morphology, Syncope, Edema, Abnormal tongue morphology, Periorbital edema, Angioedema |
ORPHA:97230 |
Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Anal atresia, Tracheoesophageal fistula... |
ORPHA:63862 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
High palate, Long philtrum, Hip dislocation, Thoracic kyphoscoliosis, Broad hallux, Hypoplasia of... |
ORPHA:481152 |
12Q14 Microdeletion Syndrome |
|
Wide nose, Abnormal nostril morphology, Chiari malformation, Short stature, Hypodontia, Micrognat... |
ORPHA:94063 |
Desmosterolosis |
|
Retrognathia, Patent ductus arteriosus, Renal hypoplasia/aplasia, Micrognathia, Bifid uvula, Subm... |
ORPHA:35107 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Back pain, Kyphosis, Aortic regurgitation, Inflammation of the large intest... |
OMIM:106300 |
Mandibuloacral Dysplasia |
|
High palate, Acroosteolysis of distal phalanges (feet), Micrognathia, Abnormal tongue morphology,... |
ORPHA:2457 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Hydrops fetalis, Per... |
ORPHA:77261 |
Isolated Cleft Lip |
|
Supernumerary maxillary incisor, Non-midline cleft lip, Polyhydramnios, Bilateral cleft lip, Hypo... |
ORPHA:199302 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Pulmonary artery ... |
OMIM:185500 |
Feingold Syndrome |
|
Patent ductus arteriosus, Hallux valgus, Short stature, Esophageal atresia, Toe syndactyly, Micro... |
ORPHA:1305 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Natal tooth, 2-3 finger syndactyly, 4-5 finger syndactyly, Cam... |
ORPHA:158687 |
Hypoglossia With Situs Inversus |
|
High palate, Hypodontia, Micrognathia, Situs inversus totalis, Narrow mouth, Microglossia |
OMIM:612776 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Wide nasal bridge, Pectus excavatum, Everted lower lip vermilion, Thick nasal alae, Postnatal gro... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Wide nasal bridge, Pectus excavatum, Everted lower lip vermilion, Thick nasal alae, Postnatal gro... |
ORPHA:363958 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal nostril morphology, Long philtrum, Finger syndactyly, Wide nasa... |
ORPHA:178303 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Underdeveloped nasal alae, Aplasia/Hypoplasia of the thumb, Preaxial hand po... |
ORPHA:2378 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, ... |
ORPHA:261183 |
Auriculocondylar Syndrome |
|
Difficulty in tongue movements, Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia,... |
ORPHA:137888 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Micrognathia, Bifid uvula, Elbow dislocation, Abnorm... |
ORPHA:2554 |
Branchiooculofacial Syndrome |
|
Micrognathia, Elbow flexion contracture, Short neck, Cleft of chin, Cleft palate, Postnatal growt... |
OMIM:113620 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Open mouth, Decreased fetal movement, Ventricular septal defect |
OMIM:616816 |
Cowden Syndrome 5 |
|
Colonic diverticula, High palate, Kyphosis, Micrognathia, Palmoplantar hyperkeratosis, Pectus exc... |
OMIM:615108 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car... |
OMIM:620135 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Thin upper lip vermilion, Smooth philtrum, Brachyda... |
ORPHA:313781 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Patent foramen ovale, Vesicoureteral reflux, 2-3 toe syndactyly, High palate, Tapered finger, Hyp... |
OMIM:618653 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Auriculocondylar Syndrome 1 |
|
Dental malocclusion, Mandibular condyle hypoplasia, Micrognathia, Dental crowding, Narrow mouth, ... |
OMIM:602483 |
Mungan Syndrome |
|
Vesicoureteral reflux, Hypoperistalsis, Perimembranous ventricular septal defect, Megaduodenum, P... |
OMIM:611376 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Osteolytic defects of the phalanges of the hand, Hip subluxation, Co... |
OMIM:182250 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Persistent left superior vena cava, Abnormal hea... |
OMIM:614954 |
Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Polyhydramnios, Coxa valga, Micrognathia, Elbow dis... |
ORPHA:800 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Short stature, Hypoplasia of the radius, Bicuspid aortic... |
OMIM:614900 |
Autosomal Recessive Polycystic Kidney Disease |
|
Fat malabsorption, Micrognathia, Cholangiocarcinoma, Pulmonary hypoplasia, Hepatoblastoma, Reduce... |
ORPHA:731 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Situs inversus totalis, Postaxial polydactyly, Renal dysplasia |
OMIM:615985 |
Frontorhiny |
|
Camptodactyly of finger, Bifid tongue, Midline nasal groove, Hypoplastic frontal sinuses, Cranium... |
ORPHA:391474 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Tongue fasciculations, Renal cyst, Renal hypoplasia, Ren... |
OMIM:614922 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cardiomyopathy, Cerebellar dysplasia, Cerebellar hypoplasia, Macroglossia, Abnormal left ventricu... |
OMIM:613155 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly... |
ORPHA:570 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Ventricular septal defect, Malabsorption, Aganglionic megacolon, Microg... |
ORPHA:452 |
Geleophysic Dysplasia 2 |
|
Pulmonary arterial hypertension, Long philtrum, Short foot, Short stature, Mitral stenosis, Mitra... |
OMIM:614185 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Gingivitis, Palmoplantar hyperkeratosis, Abnormal rib morphology, Abnorm... |
ORPHA:2907 |
Mend Syndrome |
|
Sacral dimple, 2-3 toe syndactyly, High palate, Kyphosis, Short stature, Abnormal nasal bridge mo... |
ORPHA:401973 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Bilateral su... |
OMIM:605376 |
Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Gastroesophageal reflux, Ventricular septal defect, Cerebellar hypoplasia, ... |
OMIM:614961 |
Branchioskeletogenital Syndrome |
|
Bifid uvula, Pectus excavatum, Short neck, Amelia involving the lower limbs, Abnormality of the v... |
ORPHA:1299 |
Joubert Syndrome 3 |
|
Elongated superior cerebellar peduncle, Wide nasal bridge, Stage 5 chronic kidney disease, Atrial... |
OMIM:608629 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, R... |
OMIM:617271 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Long philtrum, Cerebellar hypoplasia... |
OMIM:251290 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Vascular dilatation, Ventricular septal defect, Renal corticomedullary cysts, Ren... |
OMIM:219730 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Renal tubular acidosis, Caesarian section, Short stature, Short philtr... |
OMIM:619575 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Delayed eruption of teeth, Narrow chest, Premature loss of prima... |
ORPHA:667 |
Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Recurrent upper an... |
OMIM:620014 |
Scleroderma |
|
Osteolytic defects of the phalanges of the hand, Abnormal large intestine morphology, Abnormal ph... |
ORPHA:801 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Gastroesophageal reflux, Ventricular septal defect, Short stature, Atrial septal d... |
OMIM:249270 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve stenosis, Aortic valve calcification |
OMIM:114065 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Micrognathia, Dislocated radial head, Bilateral talipes equinovarus, Atrial septal defect, Congen... |
OMIM:619512 |
Mowat-Wilson Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Prominent nasal tip, Pectus excavatum, Pulmonary ar... |
OMIM:235730 |
Nablus Mask-Like Facial Syndrome |
|
Tapered finger, Wide nasal bridge, Camptodactyly, Everted lower lip vermilion, Short hallux, Shor... |
OMIM:608156 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Vesicoureteral reflux, Wide nose, High palate, Patellar aplasia, Short s... |
ORPHA:96061 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft palate, Cleft upper lip, Slender long bone, Intrauterine growth retardation |
ORPHA:96181 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Chiari malformation, Hydromyelia, Renal dysplasia, Butterfly vertebrae, Hip dislocation, Postaxia... |
OMIM:308205 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Pedal edema, Pancreatic cysts, Abnormal sternum morphology, Low ... |
ORPHA:284 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Choanal stenosis, Long philtrum, Humeroradial synostosis, Narrow pelvis bone, Camptodactyly, Ulna... |
OMIM:207410 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Congenital Myopathy 11 |
|
Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Decreased fetal movement, Atrial ... |
OMIM:619967 |
Noonan Syndrome 6 |
|
Polyhydramnios, Abnormal sternum morphology, Wide nasal bridge, Short stature, Pectus excavatum, ... |
OMIM:613224 |
Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Finger syndactyly, Wide nasal bri... |
ORPHA:989 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Elevated pulmonary artery pressure, Bidirectional shunt, Anuria, Renal ... |
OMIM:619351 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Tapered finger, Short 5th finger, Wide nasal bridge, Urethral stricture, Dysphagia, Ventricular s... |
OMIM:619522 |
Ohdo Syndrome, Sbbys Variant |
|
Microdontia, Long hallux, Micrognathia, Dilated cardiomyopathy, Thin upper lip vermilion, Hypospa... |
OMIM:603736 |
Cowden Syndrome 6 |
|
Colonic diverticula, High palate, Kyphosis, Micrognathia, Palmoplantar hyperkeratosis, Pectus exc... |
OMIM:615109 |
Marshall Syndrome |
|
Thick upper lip vermilion, Genu valgum, High palate, Long philtrum, Hypoplastic frontal sinuses, ... |
ORPHA:560 |
16P11.2P12.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Tricuspid regurgitation, Absent nasal bridge, S... |
ORPHA:261211 |
Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Hyperlordosis, Convex nasal ridge, Narrow palate, Hallux valgus, Finger synd... |
ORPHA:794 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Irregular capital femoral epiphys... |
OMIM:231050 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Wide mouth, Short stature, Secundum atrial septal defect, Bifid uvula, Cerebel... |
OMIM:615802 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Syncope, Submucous cleft hard palate, Posteriorly placed tongue, Premature... |
OMIM:192445 |
Perlman Syndrome |
|
Nephroblastoma, Polyhydramnios, Everted upper lip vermilion, Wide nasal bridge, Renal hamartoma, ... |
OMIM:267000 |
Lethal Congenital Contracture Syndrome 2 |
|
Polyhydramnios, Ventricular septal defect, Micrognathia, Decreased fetal movement, Dilated cardio... |
OMIM:607598 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dicarboxylic aciduria, Dilated cardiomyopathy, Dehydration |
ORPHA:79159 |
Momo Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Short sternum, High palate, Long philtrum, Short ... |
ORPHA:2563 |
Mogs-Cdg |
|
Retrognathia, Polyhydramnios, Wide nose, Thoracic scoliosis, High palate, Pulmonary edema, Left v... |
ORPHA:79330 |
Luo-Schoch-Yamamoto Syndrome |
|
Wide nose, Tricuspid regurgitation, Small hand, Wide mouth, Short philtrum, Oligohydramnios, Depr... |
OMIM:619460 |
Hallermann-Streiff Syndrome |
|
Underdeveloped nasal alae, Convex nasal ridge, Small hand, Natal tooth, Short ribs, Cerebellar hy... |
ORPHA:2108 |
Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Microdon... |
OMIM:113650 |
Crane-Heise Syndrome |
|
Aplastic clavicle, Finger syndactyly, Toe syndactyly, Micrognathia, Hypoplasia of penis, Depresse... |
ORPHA:1512 |
Arthrogryposis And Ectodermal Dysplasia |
|
Cleft upper lip, Joint contracture of the hand, Short stature, Oligodontia, Camptodactyly, Kyphos... |
OMIM:601701 |
Semilobar Holoprosencephaly |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Single naris, A... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Single naris, A... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Single naris, A... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Single naris, A... |
ORPHA:93924 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Depressed nasal ridge, Short long bone, Epiphyseal stippling, ... |
OMIM:118651 |
Joubert Syndrome 2 |
|
High palate, Encephalocele, Elongated superior cerebellar peduncle, Dysgenesis of the cerebellar ... |
OMIM:608091 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Foot polydactyly, Aganglionic megacolon, Hand polydactyly, Abnormal vertebral morp... |
ORPHA:220493 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Facial telangiectasia, Myelomeningocele, Short stature, Contracture of the proximal interphalange... |
OMIM:620141 |
Cardiofaciocutaneous Syndrome 4 |
|
Polyhydramnios, Short stature, Cerebellar hypoplasia, Abnormal aortic valve morphology, Palmoplan... |
OMIM:615280 |
Cowden Syndrome 1 |
|
Colonic diverticula, High palate, Kyphosis, Dysplastic gangliocytoma of the cerebellum, Micrognat... |
OMIM:158350 |
Myasthenic Syndrome, Congenital, 10 |
|
Decreased fetal movement, Tongue atrophy |
OMIM:254300 |
Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Long philtrum, Short stature, Thoracic kyphosis, Abnormal intervertebr... |
ORPHA:85194 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Hydrops fetalis, Syncope, Nonimmune hydrops fetalis, Ve... |
OMIM:603830 |
Joubert Syndrome 20 |
|
Renal cyst, Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
Proximal Spinal Muscular Atrophy |
|
Gastroesophageal reflux, Distal upper limb muscle weakness, Recurrent aspiration pneumonia, Recur... |
ORPHA:70 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short phalanx of finger, Secundum atrial septal defect, Short neck, Metaphyseal irregularity, Irr... |
ORPHA:99646 |
Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia, Occipital encephalocele, Oligohydramnios |
OMIM:615397 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Tricuspid regurgitation, Long philtrum, Clinodactyly of the 5th finger, Microretrognathia, Hypopl... |
ORPHA:228396 |
Bardet-Biedl Syndrome 1 |
|
High palate, Foot polydactyly, Hypodontia, Aganglionic megacolon, Abnormality of the kidney, Left... |
OMIM:209900 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Bulbous nose, Atrial septal defect, Contracture of the proximal in... |
OMIM:618109 |
Transketolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... |
ORPHA:488618 |
Pai Syndrome |
|
Encephalocele, Bifid uvula, Nasal polyposis, Abnormal oral frenulum morphology, Median cleft lip,... |
ORPHA:1993 |
Osteogenesis Imperfecta, Type X |
|
Thoracic hypoplasia, Micrognathia, Short femur, Fibular bowing, Nephrolithiasis, Dentinogenesis i... |
OMIM:613848 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
High palate, Long philtrum, Kyphosis, Micrognathia, Palmoplantar hyperhidrosis, Short nose, Edema... |
OMIM:617527 |
Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect, Dysphagia |
OMIM:619083 |
Meacham Syndrome |
|
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Ventricular septal defect,... |
ORPHA:3097 |
Spondyloocular Syndrome |
|
Arachnodactyly, Duodenal ulcer, Short stature, Lymphedema, Dysplastic aortic valve, Mitral valve ... |
OMIM:605822 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Choanal stenosis, Metaphyseal cupping, Hip contracture, Short ribs, Short long bone, Micrognathia... |
OMIM:156400 |
Duane Retraction Syndrome |
|
Triphalangeal thumb, Anorectal anomaly, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyl... |
ORPHA:233 |
Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Encephalocele, Depressed nasal ridge, Short stature, Short nose, Dimple on... |
ORPHA:1791 |
Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Long philtrum, Hepatocellular adenoma, Wide nasal base, Short n... |
ORPHA:3134 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Sacral dimple, Short stature, Thick lower lip vermilion, Clinodactyly, Camptodactyly, Atrial sept... |
ORPHA:261323 |
Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Birth length less than 3rd percentile, Short stature, Thick lower lip vermilion... |
OMIM:613804 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Scoliosis, Hammertoe, Tongue fasciculations, Talipes equinovarus |
OMIM:601596 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip, Absent radius |
OMIM:179400 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Abnormal metaphysis morphology, Short ri... |
ORPHA:2021 |
Spondyloepiphyseal Dysplasia Congenita |
|
Delayed calcaneal ossification, Bifid uvula, Hip dislocation, Short neck, Ovoid vertebral bodies,... |
OMIM:183900 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Patent foramen ovale, Patent ductus arteriosus, Pulmonary arterial hypertension... |
OMIM:620005 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Shoulder dislocation, Abnormal nasal bridge morphology, Micro... |
ORPHA:536545 |
Vascular Ehlers-Danlos Syndrome |
|
Gingivitis, Ascending tubular aorta aneurysm, Pneumothorax, Microdontia, Abnormal oral frenulum m... |
ORPHA:286 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Short stature, Postaxial polydactyly |
OMIM:618123 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy... |
OMIM:178600 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Pulmonary hypoplasia, Prominent sternum |
ORPHA:2140 |
Momo Syndrome |
|
Short sternum, Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed erupti... |
OMIM:157980 |
Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, High palate, Tortuous cerebral arteries, Celiac artery dissection, Mic... |
OMIM:619329 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Single naris, Hypoplasia of the premax... |
OMIM:610829 |
Elsahy-Waters Syndrome |
|
Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Pectus excava... |
OMIM:211380 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Thickened ribs, Wide nasal bridge, Gingival overgrowth, Increased size o... |
ORPHA:217085 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Gastroesophageal reflux, P... |
OMIM:618076 |
Myopathy, Myofibrillar, 7 |
|
Urinary incontinence, Enuresis nocturna, Tongue atrophy, Spinal rigidity, Thoracic kyphosis, Elbo... |
OMIM:617114 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Cerebellar dysplasia, High palate, Short stature, Hip dysplasia, Myocardial infarction, Single tr... |
ORPHA:457240 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Dental malocclusion, Tapered finger, Wide nasal bridge, Clinodactyly, Down-sloping shoulders, Mic... |
OMIM:615560 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Premature birth, Nonimmune hydrops fetalis, Neonatal death, Intrauterine growth retardation, Card... |
OMIM:618839 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Unilateral renal ... |
OMIM:184705 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Short stature, Cardiac arrest, Congesti... |
ORPHA:49827 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Urethral stricture, Nonimmune hydrops fetalis, Prominent sup... |
OMIM:153100 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... |
ORPHA:730 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Thickened ribs, Wide nasal bridge, Gingival overgrowth, Increased size o... |
ORPHA:217093 |
Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... |
OMIM:149730 |
Coffin-Siris Syndrome 12 |
|
Hip subluxation, Chiari malformation, Micrognathia, Prominent nasal tip, Pectus excavatum, Celiac... |
OMIM:619325 |
17Q24.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Upper limb undergrowth, Patent ductus arteriosus after birth at term, Wide... |
ORPHA:529962 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short stature, Hydroureter, Coarctation of aorta, Short neck, Pulmonic... |
OMIM:616559 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, High palate, Finger syndactyly, Depressed nasal ridge, Cerebellar hypoplasia, Toe... |
OMIM:616038 |
Orofaciodigital Syndrome X |
|
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Depresse... |
OMIM:165590 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal... |
OMIM:618835 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Irregular vertebral endplates, Mandibular prognathia, Periodontitis, ... |
OMIM:231070 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Pulmonary hy... |
OMIM:231680 |
Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Abnormal renal morphology, Postaxial polydactyly |
OMIM:614615 |
Xylt1-Cdg |
|
Coxa valga, Long philtrum, Short femoral neck, Short long bone, Short stature, Clinodactyly, Flar... |
ORPHA:370930 |
Saul-Wilson Syndrome |
|
Convex nasal ridge, Coxa valga, Micrognathia, Pectus excavatum, Hypoplasia of proximal fibula, Ma... |
OMIM:618150 |
Fabry Disease |
|
Glomerulopathy, Achalasia, Angina pectoris, Hypertrophic cardiomyopathy, Lymphedema, Transient is... |
ORPHA:324 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Bifid uvula, Abnormal distal pha... |
ORPHA:2636 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Areflexia of upper limbs, Scoliosis, Talipes equinovarus, Tongue atrophy |
OMIM:616155 |
Beck-Fahrner Syndrome |
|
High palate, Long philtrum, Ventricular septal defect, Hip dysplasia, Cardiomegaly, Open mouth |
OMIM:618798 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Maternal virilization in pregnancy, Chiari malformation, Humeroradial synostosis, Elbow flexion c... |
ORPHA:95699 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Abnormal vertebral morphology, Anal atresia, Abnormal heart morph... |
OMIM:276950 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Pulmonary hypoplasia, Duodenal stenosis, Horseshoe kidney, Abnormal lung m... |
ORPHA:2470 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Atrioventricular canal defect, Gastroesophageal reflux, Cyst of the duc... |
OMIM:619480 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis, Cerebellar vermis hypoplasia |
OMIM:614844 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Tongue atrophy |
ORPHA:216873 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Bifid uvula, Pectus excavatum, Short neck, Smooth philtrum, Cleft palate, Long palm, Talipes equi... |
OMIM:309583 |
Joubert Syndrome 35 |
|
Hydronephrosis, Multicystic kidney dysplasia, Elongated superior cerebellar peduncle, Recurrent u... |
OMIM:618161 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Palpitations, Peripheral edema, Toxemia of pre... |
ORPHA:563 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Umbilical hernia, Broad jaw, High palate, Tapered finger, Wide mouth, Bicuspid aortic valve, Micr... |
OMIM:614501 |
Diets-Jongmans Syndrome |
|
Polyhydramnios, Ventricular septal defect, Wide mouth, Short stature, Hip dysplasia, Breech prese... |
OMIM:618846 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Cerebellar hypoplasia, Secundum atrial septal defe... |
OMIM:617397 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Wrist swelling, Coxa vara, Short femoral neck, Flattened femoral head, P... |
ORPHA:2848 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Syndactyly, Right ventricular hypertrophy,... |
OMIM:616028 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Telangiectasia, Narrow palate, Long philtrum, Short stature, Abnormal large intestine ... |
ORPHA:109 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Wide nasal bridge, Micrognathia, Pectus excavatum, Cleft pala... |
ORPHA:97297 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Ascites, Back pain |
OMIM:174050 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,... |
OMIM:227646 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Patellar aplasia, Coxa vara, Patellar hypoplasia, Short stature, Micrognathia, Flat ... |
OMIM:147891 |
3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Cerebellar dysplasia, Biventricular hypertrophy, Single transverse p... |
OMIM:250951 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis, Polycystic kidney dysplasia, Congestive heart failure, Lacticaciduria, Arrhythmia,... |
ORPHA:26791 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the frontal bone, Cranium bifid... |
ORPHA:306542 |
Aymé-Gripp Syndrome |
|
Tapered finger, Pericardial effusion, Abnormal thorax morphology, Camptodactyly, Pericarditis, Cl... |
ORPHA:1272 |
Joubert Syndrome With Hepatic Defect |
|
Aplasia/Hypoplasia of the cerebellum, Multicystic kidney dysplasia, Neoplasm of the liver, Cerebe... |
ORPHA:1454 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Sup... |
ORPHA:439232 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short stature, Short long bone, Stage 5 chronic kidney disease, Narrow chest, Scolio... |
OMIM:613819 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Short stature, Bicuspid aortic valve, Atrial septal defect, Growth delay, Recurrent lower respira... |
OMIM:617744 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Wide mouth, Short femur, Intestinal malrotation, Gastroin... |
OMIM:617798 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Oligohydramnios, Renal ... |
ORPHA:255249 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Pycnodysostosis |
|
Spondylolysis, Narrow palate, Delayed eruption of primary teeth, Aplastic clavicle, Prominent nos... |
OMIM:265800 |
Legius Syndrome |
|
Nephroblastoma, Polydactyly, Abnormal sternum morphology, Paroxysmal atrial tachycardia, Short st... |
ORPHA:137605 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, High palate, Ventricular septal defect, Deep philtrum, Micrognathia, Hip di... |
OMIM:613884 |
Neurofibromatosis-Noonan Syndrome |
|
Short stature, Abnormal thorax morphology, Hypertrophic cardiomyopathy, Dysphagia, Pulmonic stenosis |
ORPHA:638 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Short nose, Intestinal malrotation, Depressed nasal bridge, Proteinuri... |
ORPHA:2143 |
Spastic Paraplegia 16, X-Linked |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary urgency, Hypoplasia of the m... |
OMIM:300266 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Hydrops fetalis, Plantar telangiectasia, Predominantly lower limb lymphedema, Pleural effusion, P... |
ORPHA:69735 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Retrognathia, Polyhydramnios, Long philtrum, Deep philtrum, Finger joint hypermobility, Lymphedem... |
OMIM:613563 |
Osteogenesis Imperfecta, Type Xvi |
|
Rhizomelia, Angulated humerus, Short long bone, Short stature, Multiple rib fractures, Microretro... |
OMIM:616229 |
Familial Atrial Myxoma |
|
Pedal edema, Bacterial endocarditis, Vascular dilatation, Pulmonic valve myxoma, Heart murmur, Co... |
ORPHA:615 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Polycystic kidney dysplasia, Cystic renal dysplasia, Dicarboxylic a... |
ORPHA:228308 |
Achondroplasia |
|
Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,... |
ORPHA:15 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Sonographic non-visualized fetal bladder, Limb undergrowth, Occipit... |
OMIM:614209 |
Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly, Dilatation of the renal pelvis |
OMIM:617120 |
Hyperparathyroidism, Transient Neonatal |
|
Polyhydramnios, Wide nasal bridge, Short femur, Ovarian cyst, Short ribs, Enlarged kidney, Metaph... |
OMIM:618188 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Wide nasal bridge, Micrognathia, Mild postnatal growth retardation, ... |
OMIM:150230 |
Weill-Marchesani Syndrome 3 |
|
Aortic valve stenosis, Pulmonic stenosis, Short stature, Brachydactyly |
OMIM:614819 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Atrophic gastritis, Third degree ... |
OMIM:619573 |
3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Pneumothorax, Renal cyst, Growth delay, Cerebellar atrophy, Nephroca... |
ORPHA:445038 |
Baller-Gerold Syndrome |
|
Absent thumb, Chiari malformation, Aplasia of metacarpal bones, Micrognathia, Bifid uvula, Aphala... |
OMIM:218600 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Proximal tubulopathy, Villous atrophy, Steatorrhea, Renal cyst, Edema, Protein-... |
OMIM:602579 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis, Abnormal vertebral segmentation and fusion,... |
OMIM:118100 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Short stature, Preaxial foot polydactyly, Absent tibia, Depressed nasal brid... |
OMIM:119800 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Olivopontocerebellar hypoplasia, Clinodactyly of the 5th finger, Unilateral renal ... |
ORPHA:457284 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Nijmegen Breakage Syndrome |
|
Retrognathia, Non-midline cleft lip, Anorectal anomaly, Convex nasal ridge, Prominent nose, Polla... |
ORPHA:647 |
Meckel Syndrome 12 |
|
Wide nasal bridge, Cerebellar hypoplasia, Bilateral renal agenesis, Micrognathia, Arrhinencephaly... |
OMIM:616258 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria, Cleft upper lip, Tetraamelia, Arrhythmia, Abnormality of the dentition |
OMIM:273400 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thick upper lip vermilion, Micrognathia, Hypoplastic ischia, Hypoplasia of the capital femoral ep... |
OMIM:210730 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Cardiomegaly, Nonimmune hydrops fetalis, Intrauterine growth retardation |
OMIM:618838 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hallux varus, High palate, Finger syndactyly, Small hand, Chiari malformat... |
ORPHA:93260 |
Crouzon Syndrome |
|
Convex nasal ridge, Narrow palate, Chiari malformation, Cerebellar hypoplasia, Abnormal sacrum mo... |
ORPHA:207 |
Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Clinodactyly, Abnormal 5th finger morphology, Pectus excavatum, Sy... |
ORPHA:1439 |
Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary insufficiency, Pulmonary hypoplasia |
OMIM:245650 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, High palate, Micrognathia, Pectus excavatum, Coronary-pulmonary artery fistula |
OMIM:619699 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Abnormality of the urinary system, Occipital encephalocele, Agenesis of cerebellar vermis, Postax... |
OMIM:213010 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Acrofacial Dysostosis, Cincinnati Type |
|
Flared lower limb metaphysis, Retrognathia, Patent ductus arteriosus, Short stature, Micrognathia... |
OMIM:616462 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, 3-Methylglutaconic aciduria, Dilated cardiomyopathy, Noncompaction cardiomy... |
OMIM:610198 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Cerebellar hypoplasia, Atrial septal defe... |
OMIM:613001 |
Hemochromatosis, Neonatal |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Recurrent respiratory infections, ... |
OMIM:616037 |
Brittle Cornea Syndrome |
|
Hallux valgus, Hip dysplasia, Mitral valve prolapse, Camptodactyly, Scoliosis, Arachnodactyly, Cl... |
ORPHA:90354 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Bul... |
OMIM:618737 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cleft upper lip, Cerebellar dysplasia, Encephalocele, Cerebellar hypoplasia, Spinal rigidity, Cer... |
OMIM:613150 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Vascular dilatation, Short stature, Renal cyst, Nephropathy, Focal segmental glomerulosclerosis, ... |
OMIM:617056 |
Ring Chromosome 7 Syndrome |
|
Short 5th finger, Wide nasal bridge, Bifid uvula, Slender finger, Cleft palate, Genu valgum, Abno... |
ORPHA:1449 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Tapered finger, Cleft soft palate, Wide nasal bridge, Microdontia, Broad columella, Short neck, S... |
OMIM:619950 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thick upper lip vermilion, Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral sp... |
OMIM:619727 |
Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Umbilical hernia, Long philtrum, Wide nasal bridge, Barrel-shap... |
OMIM:312830 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Ventricular septal defect, Cerebral hemorrhage... |
OMIM:616682 |
Cerebrooculonasal Syndrome |
|
High palate, Narrow palate, Long philtrum, Encephalocele, Proboscis, Postnatal growth retardation... |
OMIM:605627 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Hypersarcosinuria, Pulmonic stenosis |
ORPHA:3129 |
Culler-Jones Syndrome |
|
Cleft upper lip, Short stature, Cleft palate, Micropenis, Postaxial polydactyly |
OMIM:615849 |
Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Syno... |
ORPHA:2307 |
Birt-Hogg-Dube Syndrome |
|
Large intestinal polyposis, Renal cell carcinoma, Renal cyst, Multiple pulmonary cysts, Colon can... |
OMIM:135150 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Short stature, Anal atresia, Atrial septa... |
OMIM:309801 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Rhizomelic arm shortening, Polyhydramnios, Renal duplication, Short lower limbs, Secundum atrial ... |
ORPHA:96190 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal defect, Prominent nose, M... |
ORPHA:96191 |
Gorlin-Chaudhry-Moss Syndrome |
|
Patent ductus arteriosus, Short stature, Oligodontia, Abnormal metacarpal morphology, Hypoplasia ... |
ORPHA:2095 |
Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Prominent nose, Coronary sinus enlargement, Ventricular septal defect, Long... |
OMIM:619268 |
Multiple Osteochondromas |
|
Pneumothorax, Abnormal carpal morphology, Coxa valga, Limb undergrowth, Intestinal obstruction, D... |
ORPHA:321 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Cleft lo... |
OMIM:268305 |
X-Linked Intellectual Disability, Armfield Type |
|
Patent ductus arteriosus, Aminoaciduria, Mandibular prognathia, Small hand, Abnormal cardiac sept... |
ORPHA:85276 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, Pectus excavatum, Everted lower lip vermilion, Proportion... |
OMIM:234100 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Abnormal cardiac septum morpholog... |
ORPHA:1352 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Saethre-Chotzen Syndrome |
|
Convex nasal ridge, Narrow palate, Hallux valgus, Short stature, Partial duplication of the dista... |
OMIM:101400 |
Lathosterolosis |
|
Meningocele, High palate, Long philtrum, Cerebellar cortical atrophy, Chiari malformation, Toe sy... |
ORPHA:46059 |
Auriculocondylar Syndrome 3 |
|
Retrognathia, Micrognathia, Bifid uvula, Glossoptosis |
OMIM:615706 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele, Non-midline cleft lip, Depressed nasal ridge, Absent nasal septal cartilage, Hip dis... |
ORPHA:2003 |
Autoimmune Lymphoproliferative Syndrome |
|
Neoplasm of the tongue, Recurrent aphthous stomatitis, Hydrops fetalis, Hepatocellular carcinoma,... |
ORPHA:3261 |
Proteus Syndrome |
|
Metatarsus valgus, Sudden cardiac death, Hallux valgus, Hip dislocation, Abnormality of the wrist... |
ORPHA:744 |
Geleophysic Dysplasia 3 |
|
Polyhydramnios, Long philtrum, Limited elbow movement, Wide nasal bridge, Short stature, Epiphyse... |
OMIM:617809 |
Diphallia |
|
Absent thumb, Butterfly vertebrae, Bifid penis, Atrial septal defect, Distal urethral duplication... |
ORPHA:227 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm, Advanced ossification of carpal bones, Hypoplastic ilia, Short stature, Hip... |
OMIM:615349 |
Meckel Syndrome 13 |
|
Micrognathia, Polycystic kidney dysplasia, Occipital encephalocele, Cerebellar hypoplasia |
OMIM:617562 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Mandibular prognathia, Anal atresia, Short stature |
ORPHA:93950 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Micropenis, Increased overbite, Ventricular septal defect |
OMIM:618504 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Gastrointestinal carcinoma, Glossitis, Clubbing of fingers, Clubbing, Xerostomia, ... |
OMIM:175500 |
Gracile Bone Dysplasia |
|
Short stature, Ankyloglossia, Slender long bone, Flared metaphysis, Brachydactyly, Ascites, Micro... |
OMIM:602361 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly, Cerebellar vermis atrophy |
ORPHA:163681 |
Hartsfield Syndrome |
|
Wide nose, Cleft upper lip, Hypoplasia of the frontal bone, Median cleft lip, Syndactyly, Hypospa... |
OMIM:615465 |
Pfeiffer Syndrome Type 2 |
|
Hallux varus, High palate, Finger syndactyly, Small hand, Chiari malformation, Toe syndactyly, An... |
ORPHA:93259 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregularity, Shor... |
OMIM:250420 |
Myopathy With Extrapyramidal Signs |
|
Cerebellar dysplasia, Ventricular septal defect, Short neck, Growth delay, Anteverted nares, Tent... |
OMIM:615673 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Hereditary Mucoepithelial Dysplasia |
|
Anorectal anomaly, Hematuria, Abnormality of the bladder, Tracheoesophageal fistula, Pulmonary fi... |
ORPHA:1839 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Joubert Syndrome |
|
Encephalocele, Foot polydactyly, Aganglionic megacolon, Hand polydactyly, Cerebellar vermis hypop... |
ORPHA:475 |
Lipoid Proteinosis |
|
High palate, Tongue nodules, Thick lower lip vermilion, Nasal polyposis, Abnormal oral mucosa mor... |
ORPHA:530 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... |
ORPHA:99105 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Arima Syndrome |
|
Renal tubular atrophy, Dilated fourth ventricle, Wide mouth, Stage 5 chronic kidney disease, Rena... |
OMIM:243910 |
Barth Syndrome |
|
3-Methylglutaconic aciduria, Mandibular prognathia, Tricuspid regurgitation, Recurrent bronchitis... |
OMIM:302060 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Bilateral lung agenesis, Abnormal cardiac septum morphology, Coarctatio... |
OMIM:601612 |
Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Ventricular septal defec... |
OMIM:181450 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Gastroesophageal reflux, Mandibular prognathia, High palate, Vesicovaginal fis... |
OMIM:300896 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Scoliosis, Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
Deafness-Craniofacial Syndrome |
|
Patent ductus arteriosus, Underdeveloped nasal alae, Bifid tongue, Wide nasal bridge, Short lingu... |
ORPHA:3241 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Cerebellar dysplasia, Cerebellar hypoplasia, Renal dysplasia, Micrognathia, Cere... |
OMIM:236670 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas... |
OMIM:120330 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Gastroesophageal reflux, Short foot, Kyphosis, Small hand, Short stature, Hip dysplasia, Decrease... |
ORPHA:398069 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Postnatal growth retardation, Supraventricular ar... |
ORPHA:75249 |
Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Finger syndactyly, Short stature, Nephrotic syndrome, Hypoplasia of... |
ORPHA:110 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Retrognathia, Dilated cardiomyopathy, Down-sloping shoulders, Mitral regurgitation, Short clavicles |
OMIM:212112 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, High palate, Bicuspid aort... |
OMIM:617168 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, R... |
OMIM:615986 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Bifid uvula, High palate, Nasal polyposis, Median cleft lip |
OMIM:155145 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft lip, Single transverse palmar crease, Bilateral clef... |
OMIM:616788 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Ventricular septal defect, Renal tubular acidosis, Glycosuria, Hip dysplasia, Neph... |
OMIM:613404 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Limb und... |
OMIM:618019 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Abnormal nasopharynx morphology, Short stature, Prominent median palatal raphe, ... |
OMIM:147250 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Convex nasal ridge, Abnormal cerebral vascular m... |
ORPHA:79474 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Retrognathia, Ascending tubular aorta aneurysm, Pneumothorax, Right bundle branch block, Wide nas... |
OMIM:617403 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Vertebral fusion, Vertebral hypoplasia, Ventricular septal defect, Esop... |
OMIM:206900 |
Dpagt1-Cdg |
|
Fetal akinesia sequence, Abnormal cerebellum morphology, Cerebellar hypoplasia, Clinodactyly, Cam... |
ORPHA:86309 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Maternal diabetes, Atrial septal defec... |
ORPHA:2248 |
Agel Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Respiratory tract infection, Blepharochalas... |
ORPHA:85448 |
Tuberous Sclerosis 1 |
|
Dental enamel pits, Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Wolff-Parkin... |
OMIM:191100 |
Lathosterolosis |
|
Thick upper lip vermilion, High palate, Long philtrum, Chiari malformation, Wide nasal bridge, To... |
OMIM:607330 |
Cystic Echinococcosis |
|
Abnormal subpleural morphology, Ovarian cyst, Renal cyst, Multiple pulmonary cysts, Abnormal hear... |
ORPHA:400 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Polyhydramnios, Abnormal cardiac septum morphology |
ORPHA:3346 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Polyhydramnios, Thoracic hypoplasia, Ventricular septal defect, Abnorma... |
ORPHA:254534 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Polydactyly, Chronic bronchitis, Stage 5 chronic kidney disease, Hy... |
OMIM:616629 |
Joubert Syndrome 15 |
|
Nephronophthisis, Polydactyly, Micropenis |
OMIM:614464 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Shor... |
ORPHA:3144 |
Biemond Syndrome Ii |
|
Preaxial hand polydactyly, Short stature |
OMIM:210350 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Squared-off platyspondyly, Short neck, Limb undergrowth, Delayed epiphyseal ... |
ORPHA:93352 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Abnormal thorax mor... |
ORPHA:1461 |
Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Microdontia, Hypodontia, Everted lower lip vermilion, Hypoplasia of the maxill... |
ORPHA:782 |
Wiedemann-Rautenstrauch Syndrome |
|
Convex nasal ridge, Chiari malformation, Delayed eruption of teeth, Micrognathia, Secundum atrial... |
OMIM:264090 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent aphthous stomatitis, High palate, Pectus carinatum, Wide nasal bridge, Short stature, M... |
OMIM:233600 |
Classical Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Pulp calcification, Hip dislocation, Dislocated radial head, Arterial ruptu... |
ORPHA:287 |
Dyskeratosis Congenita |
|
Anorectal anomaly, Periodontitis, Short stature, Malabsorption, Hypodontia, Telangiectasia of the... |
ORPHA:1775 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hydrops fetalis, Short stature, Hypertrophic cardiomyopathy, Hypospadias, Micropenis |
OMIM:613673 |
Curry-Jones Syndrome |
|
Lip pit, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, Occipital m... |
OMIM:601707 |
Acromegaly |
|
Tapered finger, Long penis, Hypertrophic cardiomyopathy, Deep palmar crease, Broad jaw, Spinal ca... |
ORPHA:963 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Reduc... |
OMIM:617610 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Recurrent lower respiratory tract infections, Delayed eruption of teet... |
ORPHA:508542 |
Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Short philtrum, Pulmonary artery stenosis, Umbilical hernia |
OMIM:617237 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Pulmonic stenosis, Hydronephrosis |
OMIM:264140 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Short stature, Secundum atrial septal defect, Prominent nas... |
OMIM:601321 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Short 4th metacarpal, Hallux valgus, Micrognathia, Pectus excavatum, Ovarian serous cystadenoma, ... |
ORPHA:1772 |
Johanson-Blizzard Syndrome |
|
Convex nasal ridge, Colonic diverticula, Urethrovaginal fistula, Hypoplasia of the primary teeth,... |
OMIM:243800 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:617044 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia, Hypertension, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Bilateral cleft lip, Wide nasal bridge, Absent nasal septal cartila... |
OMIM:610828 |
Bor Syndrome |
|
Retrognathia, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Uret... |
ORPHA:107 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Underdeveloped nasal alae, Gastroesophageal reflux, Wide nose, Ventricular septal defect, Moderat... |
OMIM:619525 |
Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Broad hallux, Smooth philtrum, Recurrent upper respiratory tract... |
ORPHA:404448 |
Congenital Fiber-Type Disproportion Myopathy |
|
Polyhydramnios, Micrognathia, Elbow flexion contracture, Pectus excavatum, Dysphagia, Talipes equ... |
ORPHA:2020 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Abnormal cerebellum morphology, Kyphosis, Tongue atrophy, Hand muscle atrophy, Scoliosis, Dysphag... |
OMIM:211530 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal hemorrhage, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Hematuria, Raynau... |
OMIM:611773 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Arterial calcification, Reduced left ventricular ejection fraction, Sinus tachycard... |
OMIM:614473 |
Trichothiodystrophy |
|
Retrognathia, Enamel hypoplasia, Ventricular septal defect, Hypoplasia of mandible relative to ma... |
ORPHA:33364 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Short stature, Submucous cleft hard palate, Atrial septal defect, Hypospadi... |
OMIM:618891 |
Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Cleft upper lip, Lower lip pit, Cutaneous finger syndactyly, Bifid uvula, Spi... |
OMIM:119500 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Delayed eruption of primary teeth, Aplastic clavicle, Delayed ossificati... |
OMIM:620099 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Cardiogenic shock, Dilated cardiomyopathy, Myocard... |
OMIM:619424 |
Microphthalmia, Syndromic 11 |
|
Cleft palate, Cleft upper lip |
OMIM:614402 |
Renal Tubular Dysgenesis |
|
Hypotension, Anuria, Pulmonary hypoplasia, Oligohydramnios, Abnormality of the urinary system, Re... |
OMIM:267430 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Hydrops fetalis |
ORPHA:766 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Short philtrum, Hypoplasia of the maxilla, Bulbous nose |
ORPHA:93945 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Familial Visceral Myopathy |
|
Camptodactyly of finger, Vesicoureteral reflux, Arachnodactyly, Hydroureter, Aganglionic megacolo... |
ORPHA:2604 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Gastroesophageal reflux, High palate, Micrognathia, Inferior cerebellar vermis hyp... |
OMIM:617913 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Mitten deformity, Gastroesophageal reflux, Esophageal stricture, Ankyloglossia, Esophageal stenos... |
ORPHA:89842 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Short thorax, Aplastic clavicle, Kyphosis, Ectopic anus, Wide mouth, Thick vermilion border, Abno... |
ORPHA:85199 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Polyhydramnios, Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of the gastrointestina... |
ORPHA:2241 |
Mucoepithelial Dysplasia, Hereditary |
|
Furrowed tongue, Fibrocystic lung disease, Hematuria, Erythematous oral mucosa, Corneal neovascul... |
OMIM:158310 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Renal dysplasia, Short finger, Broad finger, Depressed nasal bridge, U... |
ORPHA:1934 |
Larsen Syndrome |
|
Accessory carpal bones, Abnormality of the cervical spine, Finger syndactyly, Short stature, Vert... |
ORPHA:503 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Urinary incontinence, Atrial septal defect |
OMIM:620094 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand, Micropenis, Short stature |
OMIM:245800 |
Cowden Syndrome |
|
Colorectal polyposis, High palate, Abnormal cerebellum morphology, Kyphosis, Mucosal telangiectas... |
ORPHA:201 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria... |
ORPHA:97362 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Hypoplastic left heart, Joint contracture of the 5th finger, Occipit... |
OMIM:619562 |
Somatomammotropinoma |
|
Wide nose, Broad jaw, Mandibular prognathia, Tapered finger, Kyphosis, Widely spaced teeth, Dysur... |
ORPHA:314769 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Retrognathia, Patent foramen ovale, Vesicoureteral reflux, Patent ductus arteriosus, Aspiration p... |
ORPHA:438213 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Vascular dilatation, Hepatic cysts, Stage 5 chronic kidney disease... |
OMIM:616307 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Crossed fused renal ectopia, Bifid nose, Median cleft lip and palate, Severe short stature, Thena... |
ORPHA:2213 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Depressed nasal bridge, Multiple renal cysts, Anteverted nares |
OMIM:614883 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Postaxial foot polydactyly |
OMIM:617119 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Dysphagia, Tongue atrophy |
OMIM:613435 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Polyhydramnios, Convex nasal ridge, Ulnar deviation of the hand or of fi... |
OMIM:600383 |
X-Linked Agammaglobulinemia |
|
Short stature, Malabsorption, Recurrent pneumonia, Sinusitis, Abnormal lung morphology, Glossoptosis |
ORPHA:47 |
17Q11 Microdeletion Syndrome |
|
Thickened cortex of long bones, Hypertrophic cardiomyopathy, Abnormal internal carotid artery mor... |
ORPHA:97685 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Thoracolumbar scoliosis, Pancreatic cysts, Long philtrum, Polycystic kidney dysplasia, Renal cyst... |
OMIM:610199 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Bifid uvula, Abnormal metaphysis morphology, Cleft palate, Short palm, Abnormal dental enamel mor... |
ORPHA:2658 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Wide nose, Hyperlordosis, Narrow palate, High palate, Long philtrum, Cutaneous finger syndactyly,... |
OMIM:616078 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Patent foramen ovale, Tapered finger, Narrow nasal tip, Wide nasal bridge, Widely spaced teeth, E... |
ORPHA:477993 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Micrognathia, Conotruncal defect |
OMIM:243440 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Ovoid vertebral bodies, Narrow greater sciatic notch, Metaphyseal irregu... |
ORPHA:85167 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Gastroesophageal reflux, Hand clenching, Retinal hemorrhage, High palate, Ventricular septal defe... |
OMIM:614653 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Bilateral talipes equinovarus, Esophageal atresia, Cerebellar h... |
OMIM:614083 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Abnormal pulmonary interstitial morphology... |
ORPHA:209905 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Proximal renal tubular acidosis, Oligohydramnios, Breech presentation, Depressed nasal bridge, In... |
OMIM:615824 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
ORPHA:255241 |
Choreoacanthocytosis |
|
Protruding tongue, Dilated cardiomyopathy, Temporomandibular joint crepitus, Dysphagia |
ORPHA:2388 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Cleft Velum |
|
Aspiration pneumonia, Cleft soft palate, Velopharyngeal insufficiency, Hypoplasia of the maxilla,... |
ORPHA:99772 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar hemisphere hypoplasia, Ventricular septal defect, Short stature, Hypoplasia of the pon... |
OMIM:618325 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Palpebral edema, Palmar telangiec... |
OMIM:607823 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Gastroesophageal reflux, Long philtrum, Cerebellar hypoplasia, Micrognathia, Tented philtrum, Ren... |
ORPHA:495875 |
Stüve-Wiedemann Syndrome |
|
Sacral dimple, Camptodactyly of finger, Genu valgum, Short stature, Elbow flexion contracture, In... |
ORPHA:3206 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles |
OMIM:264270 |
Alpha-Thalassemia |
|
Hydrops fetalis |
ORPHA:846 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Hypodontia, Narrow mouth, Horseshoe kidney, Smooth ... |
ORPHA:1973 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Chronic sinusitis, Intestinal malrotation, Situs inversus ... |
OMIM:619608 |
Sotos Syndrome |
|
2-3 toe syndactyly, Pedal edema, Congenital posterior urethral valve, No permanent dentition, Pec... |
ORPHA:821 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Long philtrum, Ventricular septal defect, Cerebellar hypoplasia, Wide n... |
OMIM:619306 |
Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Abnormality of the philtrum, Mandibular prognathia, Abnormality of the elbow... |
ORPHA:2673 |
Joubert Syndrome 21 |
|
Bell-shaped thorax, Single naris, Elongated superior cerebellar peduncle, Pulmonary hypoplasia, R... |
OMIM:615636 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Barber-Say Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Wide nose, Mandibular prognathia, High palate, Wi... |
OMIM:209885 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Foot polydactyly, Toe syndactyly, Intestinal malrot... |
ORPHA:1553 |
Bardet-Biedl Syndrome 6 |
|
Renal cyst, Syndactyly, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
Beckwith-Wiedemann Syndrome |
|
Polyhydramnios, Chiari malformation, Large intestinal polyposis, Hepatoblastoma, Hypertrophic car... |
ORPHA:116 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Charcot-Marie-Tooth Disease Type 1F |
|
Urinary incontinence, Tongue atrophy, Hand muscle atrophy, Distal upper limb amyotrophy, Flexion ... |
ORPHA:101085 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Joubert Syndrome 23 |
|
Polydactyly, Cerebellar dysplasia |
OMIM:616490 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Scoliosis, Pulmonic stenosis, Heart murmur, Arachnodactyly |
OMIM:617600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Cerebellar hypoplasia, Spinal rigidity, Cerebellar cyst, Dilated cardiomyopathy, A... |
OMIM:253800 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Villous atrophy, Malabsorption, Steatorrhea, Complex organic aciduria, Dehydrati... |
OMIM:557000 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Telangiectasia, Pulmonary arteriovenous malformation, Mitral ... |
OMIM:175050 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Hypodontia, Microdontia, Atrial septal defect, Concave nasal ridge, Mal... |
OMIM:602482 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Cerebellar atrophy, Wide nasal bridge |
OMIM:618302 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Aspiration pneumonia, Ketonuria, Left ventricular hypertrophy, Dilated card... |
OMIM:619167 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Strawberry tongue, Tongue pain, Parageusia, Xerostomia, Smooth to... |
ORPHA:353253 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Hypotension, Arterial occlusion, Cardiogenic shock, Zollinger-Ellison syndrom... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Intestinal fistula, Hypotension, Arterial occlusion, Cardiogenic shock, Zollinger-Ellison syndrom... |
ORPHA:100077 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Short stature, Hip dislocation, Hypoplasia of the maxilla, Abnormality of the vertebr... |
OMIM:109120 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Thoracic hypoplasia, Long philtrum, Wide nasal bridge, Widely spaced teeth, Short lingual frenulu... |
OMIM:619479 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Complete duplication of thumb phalanx, Ventricular septal defect, Short stature, Re... |
OMIM:227645 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
IgA deposition in the glomerulus, Urethral stricture, Glomerulonephritis, Dysphagia, Abnormality ... |
ORPHA:79408 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Caesarian section, Ventricular septal d... |
ORPHA:369929 |
Oculoectodermal Syndrome |
|
Patent ductus arteriosus, Wide nasal bridge, Lymphedema, Transient ischemic attack, Giant cell gr... |
OMIM:600268 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Formiminoglutamic Aciduria |
|
Abnormal concentration of acylcarnitine in the urine, Atrial septal defect |
ORPHA:51208 |
Ebstein Malformation Of The Tricuspid Valve |
|
Patent ductus arteriosus, Imperforate tricuspid valve, Sudden cardiac death, Right bundle branch ... |
ORPHA:1880 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Polyhydramnios, Hydrops fetalis, Renal salt wasting, Hypern... |
OMIM:602522 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Abnormality of upper lip vermillion, High palate, Hallux valgus, Finger joi... |
ORPHA:506358 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Mild postnatal growth retardation, Syndactyly, Hydrops fetalis |
OMIM:224120 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Sacral dimple, Preaxial hand polydactyly, Exencephaly, Long philtrum, Finger syndactyly, Wide nas... |
ORPHA:2211 |
Chand Syndrome |
|
Bifid tongue, Hydroureter, Commissural lip pit, Abnormal oral frenulum morphology, Agenesis of pe... |
ORPHA:1401 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Lip pit, Amniotic constriction ring, Cleft palate |
ORPHA:1072 |
Juvenile Polyposis Syndrome |
|
Juvenile colonic polyposis, Hepatic arteriovenous malformation, Neoplasm of the gastrointestinal ... |
ORPHA:2929 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Ventricular septal defect, Short nose, Growth delay, Anteverted nares, Hypoplasia o... |
OMIM:234050 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Vascular dilatation, High palate, Micrognathia... |
ORPHA:60030 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An... |
ORPHA:2973 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Erlenmeyer flask def... |
OMIM:230800 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Anterior rib cupping, Short tubular bones of the hand, Coxa vara, Short long bone, S... |
OMIM:184253 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Cystic... |
ORPHA:157 |
Developmental And Epileptic Encephalopathy 90 |
|
Fetal pyelectasis, Atrial septal defect |
OMIM:301058 |
Pyknoachondrogenesis |
|
Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Depressed nasal ridge, Short r... |
ORPHA:3003 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the kidney, Aganglionic megacolon, Abnormality of the pulmonary artery |
ORPHA:895 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
2-3 toe syndactyly, Gastroesophageal reflux, Prominent nasal tip, Atrial septal defect, Short nos... |
ORPHA:522077 |
Hartnup Disease |
|
Gingivitis, Short stature, Malabsorption, Neutral hyperaminoaciduria, Glossitis, Abnormal urinary... |
ORPHA:2116 |
Congenital Tricuspid Valve Dysplasia |
|
Premature birth, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion,... |
ORPHA:555874 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... |
OMIM:126320 |
Cogan Syndrome |
|
Large vessel vasculitis, Aortic regurgitation, Vasculitis |
ORPHA:1467 |
Tuberous Sclerosis 2 |
|
Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcinoma, Wolff-Parkinson-White syndrome, ... |
OMIM:613254 |
Microphthalmia, Syndromic 6 |
|
Retrognathia, Polydactyly, Contracture of thumb, High palate, Finger syndactyly, Cerebellar hypop... |
OMIM:607932 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Wide nose, Abnormal thorax morphology, Anomalous pulmonary venous retur... |
ORPHA:2184 |
Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Toe syndactyly, Microdontia, Micrognathia, Bifid uvula, Dysphagia, Orofacial cleft,... |
ORPHA:2363 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation, Atrial septal defect |
OMIM:613087 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
Triopia |
|
Cleft palate, Encephalocele, Polyhydramnios, Median cleft lip |
ORPHA:3374 |
Lelis Syndrome |
|
Mandibular prognathia, Hypodontia, Palmoplantar hyperkeratosis, Carious teeth, Furrowed tongue |
ORPHA:140936 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperlordosis, Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Ganglione... |
ORPHA:653 |
Proboscis Lateralis |
|
Ureteral agenesis, Abnormal paranasal sinus morphology, Patent ductus arteriosus, Single naris, H... |
ORPHA:141099 |
Retinitis Pigmentosa 51 |
|
Abnormality of the kidney, Polydactyly |
OMIM:613464 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamines, Back pain, Macular edema, Renal cell carcinoma... |
ORPHA:892 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Polyhydramnios, Renal cortical cysts, Long philtrum, Micrognathia, Pectus ... |
OMIM:618548 |
Leigh Syndrome With Cardiomyopathy |
|
Renal tubular acidosis, Renal dysplasia, Abnormal renal tubule morphology, Renal agenesis, Dilate... |
ORPHA:70474 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Recurrent aspiration pneumonia, Double aortic arch, Dysphagia, Bronchiol... |
OMIM:230900 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Papillary renal cel... |
ORPHA:363618 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular functi... |
ORPHA:99103 |
Neuroocular Syndrome |
|
Sacral dimple, Patent foramen ovale, Retrognathia, Tapered finger, Hyperextensibility of the fing... |
OMIM:619539 |
Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Preaxial foot polydactyly, Atrial septal defect, Postaxial hand polydactyly, ... |
OMIM:619471 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Renal angiomyolipoma, Lymphedema, Chylopericardium, Hematuria, Emphysema, Renal neo... |
ORPHA:538 |
Developmental And Epileptic Encephalopathy 102 |
|
Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect |
OMIM:619881 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Steatorrhea, Renal cyst, Dark urine, Postnatal growth retardation |
ORPHA:79303 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hyperlordosis, Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Wide nasal bri... |
ORPHA:73223 |
Galactosialidosis |
|
Severe short stature, Conjunctival telangiectasia, Nonimmune hydrops fetalis, Cherry red spot of ... |
OMIM:256540 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, A... |
ORPHA:2237 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Mandibular aplasia, Abnormality of the anus, Abnormal cardiac septum morphology, Wide nasal bridg... |
ORPHA:2556 |
Bazex Syndrome |
|
Furrowed tongue, Low hanging columella, Narrow nasal ridge, Underdeveloped nasal alae |
OMIM:301845 |
Bdv Syndrome |
|
Micrognathia, Delayed puberty, Micropenis, Atrial septal defect |
OMIM:619326 |
Pmm2-Cdg |
|
Pericardial effusion, Angina pectoris, Pericarditis, Hypertrophic cardiomyopathy, Aspiration pneu... |
ORPHA:79318 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Colorectal polyposis, Multiple gastric polyps, Neoplasm of the rectum, Renal cyst... |
ORPHA:480536 |
46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Urogenital sinu... |
OMIM:618901 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Pulmonary edema, Pericardial effusio... |
ORPHA:199241 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Cleft upper lip, Hypoplasia of the frontal bone, Cranium bifidum occul... |
OMIM:229400 |
Leigh Syndrome |
|
3-Methylglutaconic aciduria, Abnormal dentate nucleus morphology, Ventricular septal defect, Rena... |
ORPHA:506 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Ventricular septal defect, Short neck, Short thumb, Postnatal growth retardation |
OMIM:610832 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Enterocolitis, Bronchiectasis, Villous atr... |
ORPHA:391487 |
Duodenal Neuroendocrine Tumor |
|
Intestinal fistula, Hypotension, Cardiogenic shock, Zollinger-Ellison syndrome, Melena, Edema, Pa... |
ORPHA:100076 |
Atelosteogenesis Type Iii |
|
Short tibia, Polyhydramnios, Thoracic hypoplasia, Vertebral hypoplasia, Abnormal cervical curvatu... |
ORPHA:56305 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Short stature, Coronary artery fistula, Unil... |
OMIM:620024 |
Joubert Syndrome 40 |
|
Depressed nasal bridge, Postaxial polydactyly |
OMIM:619582 |
Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Tongue atrophy, Neuropathic spinal arthropathy, Hip dysplasia, Ce... |
ORPHA:99949 |
Hypoglossia-Hypodactylia |
|
Retrognathia, Micrognathia, Microglossia, Narrow mouth, Adactyly, Split hand, Aglossia |
OMIM:103300 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Short stature, Lymphedema, Polycystic kidney dysplasia, Bowing of the long bones |
OMIM:211890 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Patent ductus arteriosus, Aortic rupture, Polyhydramnios, Tricuspid regurgitation, Cleft soft pal... |
OMIM:614557 |
Tuberous Sclerosis Complex |
|
Respiratory tract infection, Renal angiomyolipoma, Cardiac rhabdomyoma, Stage 5 chronic kidney di... |
ORPHA:805 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Clinodactyly of the 5th finger, Wide nasal bridge |
OMIM:167730 |
Niemann-Pick Disease Type C |
|
Cerebellar vermis atrophy, Aspiration pneumonia, Hydrops fetalis, Abnormal lung morphology, Fetal... |
ORPHA:646 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis, Abnormal EKG |
OMIM:178650 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Edema, Oligosacchariduria, Periorbital edema, Furrowed tongue, Cheilitis |
ORPHA:2483 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Cerebellar atrophy, Dysphagia, Tongue atrophy |
OMIM:614153 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Crouzon Syndrome |
|
Mandibular prognathia, High palate, Abnormality of the cervical spine, Hypoplasia of the maxilla,... |
OMIM:123500 |
Hepatoerythropoietic Porphyria |
|
Purple urine, Red urine, Nonimmune hydrops fetalis, Increased fecal porphyrin, Edema, Erythrodont... |
ORPHA:95159 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Acquired Hypertrichosis Lanuginosa |
|
Glossitis, Macroglossia |
ORPHA:2221 |
Spinocerebellar Ataxia Type 36 |
|
Tongue fasciculations, Loss of Purkinje cells in the cerebellar vermis, Dysphagia, Tongue atrophy |
ORPHA:276198 |
Microsporidiosis |
|
Endocarditis, Bronchitis, Rhinitis, Abnormality of the urinary system physiology, Glossitis, Neph... |
ORPHA:2552 |
Rhyns Syndrome |
|
Short femoral neck, Short stature, Short long bone, Radial bowing, Brachydactyly, Nephronophthisi... |
OMIM:602152 |
Hypohidrotic Ectodermal Dysplasia |
|
Nephrotic syndrome, Abnormality of dental morphology, Hypoplasia of the maxilla, Tooth agenesis, ... |
ORPHA:238468 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Ventricular septal defect, Wide nasal bridge, Microretrognathia, Multiple pulmonary ... |
OMIM:619418 |
Craniosynostosis And Dental Anomalies |
|
Short phalanx of finger, Dental malocclusion, 2-3 toe syndactyly, Mandibular prognathia, Narrow p... |
OMIM:614188 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... |
OMIM:615474 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Wide nasal bridge, Micrognathia, Fetal distress, Hypertrophic cardiomyopathy, Dysphagia, Ketonuri... |
OMIM:220111 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Pleural effusion, Ascites, Nonimmune hydrops fetalis |
OMIM:617049 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Short stature, Abnormality of dental morphology, Urethral stricture, Recurrent pneumonia, Anoperi... |
ORPHA:158668 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Depressed nasal bridge, Epiphyseal stippling |
OMIM:614862 |
Holoprosencephaly 4 |
|
Absent nasal septal cartilage, Median cleft lip and palate, Median cleft lip, Depressed nasal bri... |
OMIM:142946 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Small hand, Ventricular septal defect, Short stature, Wolff-Parkinson-White syndrome, Hypertensio... |
OMIM:614947 |
Plummer-Vinson Syndrome |
|
Esophageal web, Tongue atrophy, Glossitis, Narrow mouth, Intra-oral hyperpigmentation, Dysphagia,... |
ORPHA:54028 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Ventricular septal defect, Atrial se... |
OMIM:610978 |
Congenital Erythropoietic Porphyria |
|
Porphyrinuria, Purple urine, Increased stool urobilinogen concentration, Increased fecal copropor... |
ORPHA:79277 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Bifid uvula, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Arterial rupture, Short stature, Scoliosis, Atrial septal defect |
OMIM:619115 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Peptic ulcer, Mandibular pain, Renal hamartoma, Renal cyst, Dysphagia, Nephrocalc... |
ORPHA:99880 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts, Hypertension |
OMIM:600666 |
Diamond-Blackfan Anemia 12 |
|
Triphalangeal thumb, Ventricular septal defect |
OMIM:615550 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Coronary artery stenosis, Left ve... |
ORPHA:75565 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Ventricular septal defect, Growth delay, Palmoplantar keratoderma, Recurrent respiratory infectio... |
OMIM:615508 |
Parathyroid Carcinoma |
|
Nephroblastoma, Peptic ulcer, Mandibular pain, Renal hamartoma, Renal cyst, Dysphagia, Nephrocalc... |
ORPHA:143 |
Septooptic Dysplasia |
|
Polydactyly, Short finger, Short stature |
OMIM:182230 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Wide mouth, Toe syndactyly, Microdontia, Hypo... |
ORPHA:920 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Congenital finger flexion contractures, Distal upper limb muscle weakness, ... |
ORPHA:466768 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Aminoaciduria, Systolic heart murmur, Micrognathia, Abnormal left ve... |
OMIM:619991 |
Phace Association |
|
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... |
OMIM:606519 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Recurrent upper respiratory... |
ORPHA:2399 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Polyhydramnios, Ventricular septal defect, Gastrointestinal atresia, Congenital pulmonary airway ... |
ORPHA:436252 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Distal upper limb muscle weakness, Tongue atrophy, Areflexia of u... |
ORPHA:99956 |
Epidermal Nevus Syndrome |
|
Thoracolumbar scoliosis, Weakness of long finger extensor muscles, Polycystic kidney dysplasia, A... |
ORPHA:35125 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Growth delay, Short stature, Macroglossia, Atrial septal defect |
ORPHA:93947 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Atrial septal defect, Depressed nasal bridge, Scoliosis,... |
ORPHA:457351 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Coarctation of aorta, Hyp... |
OMIM:618748 |
Whim Syndrome |
|
Respiratory tract infection, Bronchiectasis, Severe periodontitis, Recurrent pneumonia, Recurrent... |
ORPHA:51636 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Pedal edema, Elevated pulmonary artery pressure, Heart murmur, S... |
ORPHA:275766 |
Carney Complex |
|
Neoplasm of the stomach, Abnormal hard palate morphology, Tongue nodules, Esophageal neoplasm, Ne... |
ORPHA:1359 |
Acrodermatitis Enteropathica |
|
Short stature, Malabsorption, Glossitis, Furrowed tongue, Abnormality of the tongue, Cheilitis |
ORPHA:37 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly, Hydroureter, Cystic renal dysplasia, Postaxial foot polydactyly, Postaxial hand poly... |
OMIM:615989 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
Osteoporosis-Pseudoglioma Syndrome |
|
Biconcave vertebral bodies, Ventricular septal defect, Kyphosis, Severe platyspondyly, Short stat... |
OMIM:259770 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Nonimmune hydrops fetalis, Intrauterine growth retardation |
OMIM:266200 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Craniofacia... |
ORPHA:2396 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, M... |
OMIM:130650 |
Primrose Syndrome |
|
Wide nasal bridge, Torus palatinus, Metatarsus adductus, Pectus excavatum, Posterior scalloping o... |
OMIM:259050 |
Hereditary Folate Malabsorption |
|
Gastroesophageal reflux, Recurrent urinary tract infections, Glossitis, Recurrent respiratory inf... |
ORPHA:90045 |
Plague |
|
Endocarditis, Hypotension, Enterocolitis, Abnormality of the elbow, Glossitis, Inflammation of th... |
ORPHA:707 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Ventricular septal defect |
OMIM:619908 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Mandibular prognathia, Acute kidney injury, Renal c... |
ORPHA:93111 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Hypertension, Decreased glomerular f... |
OMIM:618061 |
Autosomal Dominant Cerebellar Ataxia |
|
Dense calcifications in the cerebellar dentate nucleus, Tongue atrophy, Pseudobulbar paralysis, A... |
ORPHA:99 |
Choanal Atresia |
|
Polydactyly, Recurrent respiratory infections, Chronic sinusitis, Nasal congestion |
ORPHA:137914 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Angina pectoris, Supravalvular aortic stenosis, Abnormal left ventricular f... |
ORPHA:391665 |
Diamond-Blackfan Anemia 5 |
|
Hypospadias, Ventricular septal defect, Short stature |
OMIM:612528 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Long philtrum, Wide nasal bridge, Lymphedema, Atrial septal defect, Pleural effusion, ... |
ORPHA:2526 |
Peroxisome Biogenesis Disorder 1B |
|
Convex nasal ridge, Wide nasal bridge, Epiphyseal stippling, Renal cyst, Hyperoxaluria |
OMIM:601539 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Cerebellar hypoplasia, Proboscis, Absent nasal septal cartilage, Bifid... |
OMIM:157170 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L... |
ORPHA:220460 |
Hereditary Elliptocytosis |
|
Hydrops fetalis, Postnatal growth retardation |
ORPHA:288 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Proteinuria, Glossitis, Tachycardia |
ORPHA:35858 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Spondylolysis, Kyphosis, Wide mouth, Thick lower lip vermilion, Hypoplast... |
OMIM:208400 |
Odontoonychodermal Dysplasia |
|
Hypodontia, Palmoplantar hyperhidrosis, Widely spaced primary teeth, Palmoplantar hyperkeratosis,... |
OMIM:257980 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Genu varum, Short foot, Broad tibial metaphyses, Short femoral neck, Short... |
ORPHA:2502 |
Mpdu1-Cdg |
|
Thin vermilion border, Renal cortical cysts, Prominent frontal sinuses |
ORPHA:79323 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis |
OMIM:617100 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph... |
ORPHA:18 |
Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Underdeveloped nasal alae, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp... |
OMIM:305100 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Mody |
|
Glycosuria, Abnormality of the kidney, Renal cyst, Nephropathy, Hepatocellular adenoma, Intrauter... |
ORPHA:552 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Polydactyly, Depressed nasal ridge, Osteoporosis of vertebrae, Median cleft lip and ... |
ORPHA:95494 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pedal edema, Pulmonary embolism, Pulmonary artery aneurysm, Arte... |
ORPHA:228116 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Microcolon, Oligohydramnios, Intestinal malrotation, Megacystis, Portal hypertension... |
OMIM:619431 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
Psoriasis 14, Pustular |
|
Furrowed tongue, Geographic tongue |
OMIM:614204 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Polyhydramnios, Urinary retention, Megaduodenum, Aganglionic megacolon, Mi... |
OMIM:155310 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Enamel hypoplasia, Oral mucosal blisters, Growth delay, Smooth tongue, Palmoplantar keratoderma |
ORPHA:79396 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs, Cerebellar hemisphere hypoplasia, Multicystic kidney dysplasia, Cerebellar hypo... |
OMIM:615287 |
Diamond-Blackfan Anemia 4 |
|
Short stature, Growth delay, Atrial septal defect |
OMIM:612527 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Furrowed tongue, Microdontia, Elbow flexion contracture, Oral leukoplakia |
OMIM:148210 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
Duodenal Atresia |
|
Polyhydramnios, Duodenal atresia, Abnormality of the pulmonary artery |
ORPHA:1203 |
Ebstein Anomaly |
|
Sudden cardiac death, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Atrial s... |
OMIM:224700 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Renal cell carcinoma, Pulmonary capillary hemangiomatosis, Hypertension, Cerebe... |
OMIM:193300 |
Caroli Disease |
|
Polycystic kidney dysplasia, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Ascites |
ORPHA:53035 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia, Scoliosis |
OMIM:619352 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Polyhydramnios, Hydroureter, Microcolon, Megacystis, Neonatal death, Fetal megacystis, Hydronephr... |
OMIM:619362 |
Congenital Disorder Of Glycosylation, Type If |
|
Thin vermilion border, Renal cortical cysts |
OMIM:609180 |
Orotic Aciduria |
|
Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent... |
OMIM:610655 |
Renal Cysts And Diabetes Syndrome |
|
Stage 5 chronic kidney disease, Glycosuria, Abnormality of the kidney, Decreased numbers of nephr... |
OMIM:137920 |
Medullary cystic kidney disease 2 |
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Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Stage ... |
OMIM:603860 |
Congenital Pulmonary Valvar Stenosis |
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Atrial septal defect |
ORPHA:3189 |
Axenfeld-Rieger Syndrome, Type 1 |
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Wide nasal bridge, Hypodontia, Microdontia, Oligodontia, Short philtrum, Anal atresia, Hypoplasia... |
OMIM:180500 |
Immunodeficiency 96 |
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Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent lower respiratory tract infe... |
OMIM:619774 |
Neuromuscular Oculoauditory Syndrome |
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Reduced renal corticomedullary differentiation, Wrist flexion contracture, Multiple renal cysts, ... |
OMIM:618733 |
Watson Syndrome |
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Pectus carinatum, Pulmonic stenosis, Short stature |
OMIM:193520 |
Glucagonoma |
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Stomatitis, Glossitis, Steatorrhea, Abnormal gastrointestinal motility, Intestinal obstruction, G... |
ORPHA:97280 |
Hypoplastic Left Heart Syndrome 2 |
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Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Peptic ulcer, Multiple small medullary renal cysts, Parathormone-independent increased renal tubu... |
OMIM:600740 |
Holoprosencephaly 1 |
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Aplasia of the nose, Short stature, Cerebellar hypoplasia, Proboscis, Median cleft lip and palate... |
OMIM:236100 |
17Q12 Microdeletion Syndrome |
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Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Oligohydramnios, Ureteroce... |
ORPHA:261265 |
Craniofacial-Deafness-Hand Syndrome |
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Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed nasal bridge, Ulnar deviation of t... |
OMIM:122880 |
Unilateral Polymicrogyria |
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Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Epistaxis, Abnormal heart morpholog... |
ORPHA:268943 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Wide nose, Mandibular prognathia, Cleft ala nasi, Narrow nasal base, Hypoplasia of the maxilla |
ORPHA:3044 |
Caroli Syndrome |
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Abnormality of the kidney, Polycystic kidney dysplasia, Cholangiocarcinoma, Hematemesis, Esophage... |
ORPHA:480520 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Underdeveloped nasal alae, Wide nasal bridge, Microcolon, Aganglionic megacolon, Arrhythmia, Prom... |
ORPHA:163746 |
Lipodystrophy, Familial Partial, Type 7 |
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Pulmonary arterial hypertension, Narrow nasal ridge, Pulmonary arteriovenous malformation, Hypert... |
OMIM:606721 |
Mednik Syndrome |
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Jejunal atresia, Volvulus, Microcolon, Growth delay, Neonatal death |
OMIM:609313 |
Pachyonychia Congenita 3 |
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Gingivitis, Palmar hyperkeratosis, Oral leukoplakia, Furrowed tongue, Palmoplantar keratoderma, C... |
OMIM:615726 |
Retinitis Pigmentosa 74 |
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Polydactyly, Abnormal renal morphology |
OMIM:616562 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
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Abnormality of the pulmonary artery |
ORPHA:1065 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
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Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Aprosencephaly And Cerebellar Dysgenesis |
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Cerebellar dysplasia, Poorly formed metencephalon, Micrognathia, Bifid uvula, Talipes equinovarus |
OMIM:601374 |
Meconium Ileus |
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Meconium ileus, Microcolon |
OMIM:614665 |
Monomelic Amyotrophy |
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Distal upper limb amyotrophy, Abnormality of the upper limb |
ORPHA:65684 |