Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Short stature, Ventricular septal defect, Antever... |
OMIM:615583 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Conductive hearing impairment, Clinodactyly of the 5th finger, Spina bifida occulta, ... |
OMIM:617877 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Underdeveloped nasal alae, Short neck, Micrognathia, Joint stiffness, ... |
ORPHA:2516 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Anomalous origin of left coronary artery ... |
OMIM:618845 |
Sandestig-Stefanova Syndrome |
|
Decreased fetal movement, Prominent metopic ridge, Rocker bottom foot, Short neck, Muscular ventr... |
OMIM:618804 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, P... |
ORPHA:401935 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... |
OMIM:618378 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Postnatal grow... |
OMIM:179613 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Missing ribs, Hemive... |
OMIM:220210 |
Emanuel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, ... |
OMIM:609029 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate... |
ORPHA:1354 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Generalized joint laxity, Co... |
ORPHA:508498 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Congenital diaphragmatic hernia, Microgn... |
ORPHA:96170 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Prominent nose, Abnormal foot morphology, Wide nasal bridge, Perimembranous ventric... |
OMIM:618205 |
Charge Syndrome |
|
Polyhydramnios, Micrognathia, Secundum atrial septal defect, Hemivertebrae, Hand monodactyly, Col... |
OMIM:214800 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... |
ORPHA:2378 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Abnormal sa... |
ORPHA:2345 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Atrial septal defect, Pulmonary artery atresia, Patent fo... |
OMIM:618316 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Underdeveloped nasal alae, Hydranencephaly, Truncus arteriosus, Short ... |
OMIM:601355 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon... |
ORPHA:2876 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Branchial fistula, Short statur... |
ORPHA:261330 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Prominent nose, Micrognathia, Short thumb, Patent ductu... |
OMIM:617516 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing... |
ORPHA:185 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Micrognathia, Postnatal growth retardation, Congenital sensorineural hearing impai... |
ORPHA:73272 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Conductive hearing impair... |
OMIM:157800 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Proportionate short stature, Abnormal heart morp... |
ORPHA:439167 |
Occipital Horn Syndrome |
|
Osteopenia, Venous insufficiency, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short... |
ORPHA:198 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Polyhydramnios, Multiple prenatal fractures, Patchy variation in bone m... |
OMIM:215140 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypopla... |
OMIM:613091 |
Chromosome 9P Deletion Syndrome |
|
Short neck, Micrognathia, Atrial septal defect, Long toe, Anteverted nares, Depressed nasal bridg... |
OMIM:158170 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Sotos Syndrome |
|
Accelerated skeletal maturation, Otitis media, Conductive hearing impairment, Atrial septal defec... |
OMIM:117550 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased fetal movement, Short neck, Patent ductus arteriosus, Perimembranous ventricular septal... |
OMIM:608104 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Intrauterine growth retardation, Truncus arteriosus, Short stature, Underdeveloped nasal alae |
OMIM:611867 |
Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Ventricular septal defect, Premature birth, Abnormality of t... |
ORPHA:1708 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Depressed nasal bridge, Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, ... |
OMIM:119800 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo... |
ORPHA:371428 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Short stature, Choanal atresia, Pectus excavatum, Muscular ventricular septal defect, ... |
OMIM:619227 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Fetal akinesia sequence, Flexion contrac... |
OMIM:156530 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Premature birth, Delayed skeletal maturation, Abnormality of th... |
ORPHA:3268 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Short neck, Short palm, Clinodactyly of the 5th finger, Megalocornea, Abnormal v... |
ORPHA:915 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, D... |
OMIM:134780 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Mitral stenosis, Ventricular... |
ORPHA:2008 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Short stature, Ventricular septal defect, Broad hallux, Sandal gap, Secundum at... |
OMIM:600987 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Polyhydramnios, Fetal akinesia sequence, Calcaneovalgus def... |
OMIM:256520 |
7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Prominent fingertip pads, Wide nasal ridge, Prominent nose,... |
ORPHA:251061 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Micrognathia, F... |
OMIM:312150 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Co... |
OMIM:150250 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Absent frontal sinuses, Hemivertebrae, Anteverted nares, Depressed nasal bridge, Tapered finger, ... |
OMIM:301040 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Double Outlet Right Ventricle |
|
Tachycardia, Short stature, Ventricular septal defect, Depressed nasal bridge, Abnormality of car... |
ORPHA:3426 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Short stat... |
OMIM:613686 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Prominent nose, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion co... |
OMIM:210710 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short stature, Prominent nasal bridge, Ant... |
ORPHA:2332 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Short neck, Micrognathia, Fetal akinesi... |
OMIM:208150 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... |
OMIM:135750 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Micrognathia, F... |
OMIM:253290 |
Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Premature delivery because of cervical insufficiency or ... |
ORPHA:1662 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Overlapping toe, Hearing impairment, Long nose, Patent ductus arteriosus, Mu... |
ORPHA:363444 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pes planus, Decreased fetal movement, Short stature, Rocker bottom foot, Polyhydramnios, Microgna... |
OMIM:620070 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Distal Deletion 10Q |
|
Prominent nose, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Protruding ear, Atr... |
ORPHA:96148 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Abnormal left ventricular function, Pulmonary artery atresia, Short stature, Post... |
OMIM:301056 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Short neck, Micrognathia, Conductive hearing impair... |
OMIM:130720 |
Microphthalmia, Syndromic 9 |
|
Diaphragmatic eventration, Severe short stature, Short stature, Ventricular septal defect, Congen... |
OMIM:601186 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Prominent nose, Short neck, Micrognathia, Protruding ear, Atrial septal de... |
OMIM:612474 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Finger cl... |
ORPHA:508488 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Micrognathia, Patent ductus arteriosus, Macrotia, Wide nasal bridge, 2-3 toe sy... |
ORPHA:3304 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Short stature, Camptodactyly of finger, Pectus excavatum, Arthritis, A... |
ORPHA:1937 |
Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Muscular ventricular septal defect, Atrial septal defect, Umbilical hernia, Mega... |
OMIM:618354 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Polyhydramnios, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Abnormal aortic arc... |
ORPHA:96334 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Foot oligoda... |
OMIM:616589 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Cataract, Ventricular septal defect, Rhiz... |
ORPHA:93267 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect... |
OMIM:249420 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Decreased/absent ankle reflexes, Atrial septal defect, Patent foramen oval... |
ORPHA:477817 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Polyhydramnios, Prominent nose, Micrognathia, Flexi... |
OMIM:180849 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Postnatal growth retardation, Short 5th finger, Polydactyly, Small plac... |
ORPHA:397590 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narr... |
OMIM:108720 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, Positional foot deformity, Prominent fingertip pads, Atri... |
OMIM:610443 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Short stature, Block vertebrae, Abnormal odont... |
OMIM:277300 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Postnatal growth retardation, Large p... |
ORPHA:254534 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Pectus carinatum, Protruding ... |
ORPHA:93315 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Severe short stature,... |
ORPHA:2635 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Polyhydramnios, Abnormal bone ossification, Clinodacty... |
ORPHA:79324 |
Desbuquois Syndrome |
|
Genu recurvatum, Short neck, Accelerated skeletal maturation, Coxa vara, Clinodactyly of the 5th ... |
ORPHA:1425 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pr... |
ORPHA:1120 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Micromelia, Accelerated skeletal maturation, Finger joint hypermobility, Atria... |
OMIM:618870 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax, Ab... |
ORPHA:66637 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, S... |
OMIM:300855 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Depressed nasal bridge, Sandal gap, Pro... |
ORPHA:90650 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypoplastic cer... |
ORPHA:79345 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, Microcornea, Atrial ... |
OMIM:201000 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Abnormal pinna morphology, Short neck, Sensorineural hearing impairmen... |
OMIM:214300 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Abnormal aortic arch morphology, Atrial septal defect, ... |
ORPHA:567 |
Birk-Aharoni Syndrome |
|
Micrognathia, Muscular ventricular septal defect, Absent patellar reflexes, Long nasal bridge, He... |
OMIM:620071 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Short stature, Anteverted nares, Co... |
ORPHA:1488 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... |
ORPHA:3320 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Depressed nasal bridge, Broad nasal tip, Short neck, Kyphosis, Patent ductus arter... |
OMIM:618223 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Omodysplasia 1 |
|
Short neck, Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, D... |
OMIM:258315 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Depressed nasal bridge, Anteverted nares, Diastasis recti, Overlapping to... |
ORPHA:254528 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:600001 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Atrial septal defect, Short tibia... |
OMIM:620076 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Disproportionate... |
OMIM:122600 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Hip dislocation, Developmenta... |
OMIM:618651 |
16P13.11 Microduplication Syndrome |
|
Pes planus, Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarct... |
ORPHA:261243 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, Right aort... |
OMIM:617478 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus... |
ORPHA:1972 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Short sta... |
OMIM:139210 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Proximal placement of ... |
ORPHA:628 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Short stature, Abnormal thorax morphology, Small hand, Abno... |
ORPHA:1445 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Depressed nasal ridge, Coronal cleft vertebrae, Short long bone, Epiphyseal stippling... |
OMIM:118651 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short stature, Broad nasal tip, Bifid distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowin... |
OMIM:601559 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Short stature, Ventricular septal defect, Tapered finger, Patent ductus arteriosus... |
OMIM:617159 |
Charge Syndrome |
|
Polyhydramnios, Abnormal tibia morphology, Hemivertebrae, Hypoplasia of the semicircular canal, A... |
ORPHA:138 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Choan... |
ORPHA:87 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Anteverted nares, Short neck, Hyperlordosis, Missing ribs, Abnormal sacrum ... |
ORPHA:1797 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Muscular ventricular septal defect, Adducted thumb, Low-set ears, Brachydactyly |
OMIM:620062 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Wide nose, Overlapping fingers, Short stature, Short neck, Secundum atri... |
OMIM:608779 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... |
OMIM:171480 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Increased mitochondrial number, ST segment elevation, Ventricular tachyc... |
ORPHA:263297 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Severe short stature, Anteverted nares, Micromelia, Short neck, Micro... |
ORPHA:93298 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteri... |
OMIM:306955 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Sprengel anomaly, C... |
ORPHA:1826 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Micrognathia, Joint st... |
ORPHA:1166 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Cardiomegaly, Short neck, Micrognathia, Multiple prenatal fractures, ... |
OMIM:616897 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Short stature, Thoracolumbar scoliosis, Short neck, Underdeveloped nasal alae, Micrognathia, Bulb... |
OMIM:616549 |
Basal Cell Nevus Syndrome 1 |
|
Plantar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Iris coloboma, Vertebr... |
OMIM:109400 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Mullegama-Klein-Martinez Syndrome |
|
Pes planus, Short stature, Depressed nasal bridge, Congenital diaphragmatic hernia, Prominent nos... |
OMIM:301022 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Coloboma, Vertebral segmentation defect, Triphalangeal thumb, Chorioretinal coloboma... |
ORPHA:959 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Premature rupture of membranes, Microretrognat... |
OMIM:278250 |
Alagille Syndrome |
|
Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Abnormal form of the verte... |
ORPHA:52 |
Frontonasal Dysplasia 1 |
|
Cataract, Broad nasal tip, Bifid nasal tip, Conductive hearing impairment, Postaxial hand polydac... |
OMIM:136760 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Micrognathia, Hemivertebrae,... |
OMIM:213980 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th fi... |
OMIM:228520 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Ri... |
ORPHA:1988 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Enlarged ... |
ORPHA:251071 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Micrognathia, Abnormal sacrum morph... |
ORPHA:1926 |
Down Syndrome |
|
Prenatal double bubble sign, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atrioventr... |
OMIM:190685 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Osteopenia, Short stature, Partial anosmia, Anomalous origin of left corona... |
ORPHA:2326 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Ventricular septal defect, Recurrent fractures, Micr... |
ORPHA:2772 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Pes planus, Wide nose, Ventricular septal defect, Bicuspid aortic valve, Sandal gap... |
OMIM:616652 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Cataract, Ventricular septal defect, Short stature, Sclerocornea, Missing ribs,... |
OMIM:206900 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Overfolded helix, Transposition ... |
ORPHA:1913 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Cataract, Bicuspid aortic valve, Short stature, Prominent nasal bridge, Underde... |
ORPHA:96169 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Polyhydramnios, Abnormal pinna mor... |
OMIM:607143 |
Noonan Syndrome |
|
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Short stature, Abnormal pulmonary ... |
ORPHA:648 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Femoral bowing, Stillbirth, Aortic valve stenosis, Ta... |
OMIM:615415 |
Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee ... |
OMIM:305620 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Short neck, Postnatal growth retardatio... |
ORPHA:254519 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Atrial septal de... |
OMIM:300166 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Thickened nuchal skin fold, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet... |
OMIM:618164 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Short st... |
ORPHA:97360 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Gorlin Syndrome |
|
Vertebral fusion, Cataract, Arachnodactyly, Plantar pits, Hemivertebrae, Wide nasal bridge, Verte... |
ORPHA:377 |
Shashi-Pena Syndrome |
|
Short metacarpal, Dilation of Virchow-Robin spaces, Posteriorly rotated ears, Broad nasal tip, Ce... |
OMIM:617190 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, Knee flexion contracture, Pectus car... |
OMIM:121050 |
Cantú Syndrome |
|
Cardiomegaly, Short neck, Accelerated skeletal maturation, Narrow chest, Broad ribs, Finger synda... |
ORPHA:1517 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Polyhydramnios, Micrognathia, Flexion contracture, Prematu... |
OMIM:275210 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin... |
ORPHA:93351 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent foramen ovale, Depressed nasal bridge, Lower extremity joint dislocation, Patent ductus ar... |
ORPHA:163956 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Short neck, Growth delay, Clinodactyly of th... |
OMIM:244600 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Anteverted nares, Micrognathia, Bifid distal phalanx of the thumb, Cli... |
ORPHA:2209 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti... |
ORPHA:1801 |
Slc35A2-Cdg |
|
Thickened nuchal skin fold, Osteopenia, Short stature, Limb joint contracture, Camptodactyly of f... |
ORPHA:356961 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Multiple rib fractures, Severe short stature, Anteverted nares, Recur... |
ORPHA:93299 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Tapered finger, Short thumb, Muscular ventricular septal defect, Split hand, Wide ... |
OMIM:618569 |
Brachydactyly, Type A4 |
|
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Thickened helices, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hype... |
OMIM:608328 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Short stature, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm,... |
OMIM:619657 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Short neck, Reduced bone mineral density, Pectus carinatum, Anteverted nares, ... |
ORPHA:582 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, A... |
OMIM:607155 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Short stature, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd ... |
ORPHA:391641 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... |
OMIM:610017 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Cardiomegaly, Short neck, Micrognathia, Fetal akinesia sequence, ... |
OMIM:617022 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductiv... |
OMIM:156550 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic... |
ORPHA:99094 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyl... |
ORPHA:1596 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Decreased fetal movement, Short stature, Delayed closure of the anterior fontanelle, Prominent no... |
OMIM:614886 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Hyperlordosis, Short neck, Kyphosis, Micrognathia, P... |
ORPHA:2522 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Short neck, Micrognathia, Absent thumb, Short tibia, Humeroradial synostos... |
OMIM:251230 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Trisomy 13 |
|
Cataract, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Postaxial hand polydacty... |
ORPHA:3378 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Accelerated skeletal maturatio... |
ORPHA:175 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Nonimmune hydro... |
OMIM:269250 |
Ververi-Brady Syndrome |
|
Wide nose, Short stature, Prominent nose, Broad nasal tip, Bulbous nose, Delayed skeletal maturat... |
OMIM:617982 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Truncus arteriosus, Aniridia |
OMIM:206700 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Ventricular septal defect, Short stature, Depressed nasal bridge, Broad... |
OMIM:619995 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Thickened nuchal skin fold, Vertebral fusion, Congenital muscular torticollis, Short stature, Elb... |
ORPHA:2916 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Fetal ascites, Prominent n... |
OMIM:619503 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Cyclopia, Micrognathia, Patent ductus arteriosus, Vertebral clefting, ... |
OMIM:301043 |
3C Syndrome |
|
Short neck, Micrognathia, Hemivertebrae, Abnormal tricuspid valve morphology, Chorioretinal colob... |
ORPHA:7 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Short neck, Clinodactyly of the 5th finger, Atrial septal defect, Ocular anterior segment dysgene... |
OMIM:612582 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Central heterochromia, Short neck, Micr... |
ORPHA:233 |
Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Syndactyly, Unilateral oligodactyly, Unilateral hy... |
OMIM:173800 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
Kagami-Ogata Syndrome |
|
Long clavicles, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Kyphoscolios... |
OMIM:608149 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Polyhydramnios... |
OMIM:612562 |
3M Syndrome |
|
Congenital hip dislocation, Abnormal cerebral vascular morphology, Short neck, Micromelia, Increa... |
ORPHA:2616 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Sensorineural hearing impairm... |
ORPHA:2790 |
Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, Ventricular septal defect, ... |
ORPHA:1458 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Mitral valve calcification, Low back pain, Coronary artery calcifi... |
OMIM:203500 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Tricuspid Atresia |
|
Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarctation of ao... |
ORPHA:1209 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent foramen ... |
OMIM:212093 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Short stature, Ventricular septal defect, Anteverted nares, Prominent na... |
OMIM:612946 |
White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Delayed skeletal maturation, Abnormal rib m... |
ORPHA:2475 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Polyhydramnios, Narrow chest, Neonatal short-limb short stature, Severe l... |
OMIM:151210 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Diaphragmatic eventration, Muscular ventricular septal defect, Dilated car... |
ORPHA:66634 |
Simpson-Golabi-Behmel Syndrome |
|
Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Pol... |
ORPHA:373 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Pectus ... |
OMIM:618624 |
Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Nasal polyposis, Situs inversus totalis, Clu... |
ORPHA:244 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Short neck, Bowing of the legs, Abnormal hand... |
OMIM:200600 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Talipes, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, A... |
ORPHA:1836 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Palmoplantar hyperkeratosis, Chorioretinal coloboma, Clinodactyly of the 5th fi... |
OMIM:280000 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Anterior creases of ea... |
ORPHA:1727 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Postnatal growth reta... |
ORPHA:83617 |
3Q29 Microdeletion Syndrome |
|
Cataract, Prominent nasal bridge, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Pec... |
ORPHA:65286 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Congenital sensorineural hearing impairment, Meningocele, Fused cervica... |
ORPHA:3456 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Abnormal form of the vertebral bodies, Tibial bowing, Camptod... |
ORPHA:1106 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Hearing impairment, Microgna... |
ORPHA:1724 |
Kapur-Toriello Syndrome |
|
Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Cataract, Short neck, Sh... |
OMIM:244300 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Toe clinodactyly, Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Pectus carinat... |
OMIM:619910 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... |
ORPHA:958 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus... |
ORPHA:2970 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Absent nasal ... |
OMIM:617925 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping, Depressed nasal ridge, Metaphys... |
OMIM:300863 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Congenital muscular torticollis, Mixed hearing impairment, Short neck, Sensorineural hearing impa... |
OMIM:118100 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Wide nasal bridge, Fused cervical vertebrae, Short middle... |
OMIM:309620 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Shor... |
OMIM:617137 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Short stature,... |
OMIM:151200 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Wide nose, Ventricular septal defect, Short stature, Anteverted nares, Poly... |
OMIM:222470 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Short neck, Absent thumb, Short thumb, Short 1st metaca... |
OMIM:609053 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Short stature, Choanal atresia, Short neck, Pe... |
ORPHA:52055 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Atrial septal defect,... |
OMIM:194190 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Premature birth, Nonimmune hydrops fetalis, Recurrent frac... |
OMIM:166210 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis... |
OMIM:253220 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormal morphology of the radius, Aplastic clavicle, Abnormalit... |
ORPHA:2538 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Short neck, Micrognathia, Iris coloboma, Syndactyly, Patent ductus arter... |
OMIM:249000 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... |
OMIM:184460 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Narrow greater sciatic notch, Narrow chest, Short tibia, Un... |
OMIM:616300 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Cataract, Anteverted nares, Rhizomelia, Depressed nasal bridge, Microg... |
OMIM:222765 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Absence of the sacrum, Right atrial isomerism, Ventricular septal def... |
OMIM:270100 |
Weill-Marchesani Syndrome 1 |
|
Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Short stature, Depressed nasal bridge, Paten... |
OMIM:277600 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Short stature, Abnormal rib morphology, Wide nasal bridge, Conductive hea... |
ORPHA:1513 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Abnormal heart morphology, Palpitations, Decreased activity of mitochondrial complex I, Hypertrop... |
OMIM:618250 |
Digeorge Syndrome |
|
Pilonidal sinus, Posterior embryotoxon, Short stature, Ventricular septal defect, Sclerocornea, M... |
OMIM:188400 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Narrow nasal bridge, Broad hallux phalanx, Toe syndactyly, Short stature, Micrognathia, Short nec... |
ORPHA:3082 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Prominent nasal bri... |
ORPHA:1703 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Micrognathia, Generalized joint ... |
OMIM:619472 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Prominent nasal bridge, Posteriorly rotated ears, Tapered... |
OMIM:613870 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Polyhydramnios, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing mo... |
ORPHA:1427 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Ventricular septal defect, Sensorineural hearing impairment, Tetral... |
OMIM:617992 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Short stature, Overlapping toe, Posteriorly rotated ears, Micrognathia, Promine... |
OMIM:201170 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Prominent nasal... |
OMIM:617796 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Choanal atresia, Polyhydramnios, Missing ribs, Premature birth, Posteriorly rotat... |
ORPHA:2759 |
Waardenburg Syndrome, Type 2E |
|
Pectus excavatum, Aplasia of the semicircular canal, Sensorineural hearing impairment, Anosmia, B... |
OMIM:611584 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr... |
OMIM:143095 |
Juberg-Hayward Syndrome |
|
Wide nose, Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal ... |
ORPHA:2319 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele, Coarctation of a... |
ORPHA:280195 |
Thakker-Donnai Syndrome |
|
Anteverted nares, Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Posteri... |
ORPHA:1780 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Amniotic constriction ring, Cutaneous finger syndactyly, Aplasia... |
ORPHA:2369 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Anteverted nares, Short stature, Prominent nasal bridge, Short neck... |
OMIM:148050 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Prominent nose, Bulbous nose, Hemivertebrae... |
ORPHA:2180 |
Melnick-Needles Syndrome |
|
Bowing of the long bones, Short stature, Delayed cranial suture closure, Hearing impairment, Micr... |
ORPHA:2484 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Cataract, Prominent nose, Abnormal thumb morpholog... |
ORPHA:3242 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Tracheobronchomalacia, Protruding ear, Atr... |
OMIM:613458 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Short stature, Recurrent fractures, P... |
ORPHA:1486 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint ... |
ORPHA:583 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Short stature, Short neck, Short middle phalanx of the 2nd finger, Promi... |
OMIM:617926 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Short neck, Bulbous nose, Macroglossia, Coloboma, Transposition of the gr... |
OMIM:616789 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Ventricular septal defect, Lateral clavicle hook, Preaxial hand polydact... |
OMIM:263520 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short neck, Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Jo... |
OMIM:616145 |
Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Protruding ear, Foot oligodactyly, Synostosis ... |
ORPHA:3258 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Joint stiffness, Recurrent pharyngitis, Vertigo, V... |
ORPHA:397 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly rotated e... |
ORPHA:1908 |
Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s... |
ORPHA:79094 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Beaking of vertebral bodies, Thickened aortic valve cusp, Spatulate ribs, H... |
OMIM:619698 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy, Decreased mitochondrial number |
ORPHA:352447 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges o... |
ORPHA:2990 |
Mosaic Trisomy 9 |
|
Micromelia, Short neck, Micrognathia, Polyhydramnios, Hemivertebrae, Hydrops fetalis, Finger clin... |
ORPHA:99776 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Flexion contracture, Delay... |
OMIM:271640 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... |
ORPHA:2756 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Delayed skeletal maturation, Fi... |
OMIM:612447 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Chops Syndrome |
|
Cataract, Short stature, Ventricular septal defect, Anteverted nares, Thickened helices, Hearing ... |
OMIM:616368 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short stature, Broad nasal tip, Bifid nasal tip, Polydactyly, Short tibia |
OMIM:300484 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Prominen... |
ORPHA:2962 |
Autosomal Recessive Robinow Syndrome |
|
Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Abnormal tricuspid val... |
ORPHA:1507 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Abnormality of the mitochondrion |
ORPHA:91130 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Vertebral segmentation defect, Conducti... |
OMIM:611209 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Dilated cardiomyopathy |
OMIM:602541 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Wide nasal bridge, Growth delay, Talipes equinovarus, Low-set ears, Camptodactyly,... |
OMIM:617333 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Mic... |
ORPHA:96167 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca... |
OMIM:182212 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo... |
ORPHA:93473 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Pectus... |
OMIM:259440 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Hypoplastic nasa... |
OMIM:186500 |
Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Severe short stature, Abnormal heart valve morphology, Thickened rib... |
OMIM:230500 |
Leopard Syndrome 3 |
|
Short stature, Depressed nasal bridge, Posteriorly rotated ears, Short neck, Delayed skeletal mat... |
OMIM:613707 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Short neck, Tapered finger, Mult... |
OMIM:618395 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Anteverted nares, Prominent nasal bridge, Proportionate short statu... |
OMIM:227330 |
Doors Syndrome |
|
Abnormal placental membrane morphology, Polyhydramnios, Hemivertebrae, Abnormal finger morphology... |
ORPHA:79500 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba... |
OMIM:252900 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Ab... |
ORPHA:163966 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Short neck, Bulbous nose, Patent ductus arte... |
ORPHA:2328 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Trisomy 1Q |
|
Microretrognathia, Wide nose, Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, ... |
ORPHA:261344 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnorma... |
ORPHA:2145 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Micromelia, Short neck, Micrognathia, Polyhydramnios, Coxa vara, Sprenge... |
ORPHA:800 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Neo... |
ORPHA:50945 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Short stature, Micrognathia,... |
ORPHA:2097 |
Mungan Syndrome |
|
Tricuspid regurgitation, Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormal rib morphology, Low-set ears, Chronic o... |
ORPHA:276422 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Thoracic hypoplasia, Micrognathia, Metaphyseal cupping, Hypoplastic ilia, Metap... |
OMIM:614524 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Three M Syndrome 2 |
|
Prominent nasal tip, Scapular winging, Severe short stature, Anteverted nares, Short stature, Dep... |
OMIM:612921 |
Mosaic Trisomy 8 |
|
Short neck, Micrognathia, Protruding ear, Vertebral segmentation defect, Narrow chest, Clinodacty... |
ORPHA:96061 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Delayed closure of the anterior fontanelle, Talipes equinovalgus, Abnormal foot mo... |
OMIM:605274 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum ... |
OMIM:192350 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent r... |
OMIM:314390 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... |
OMIM:210720 |
German Syndrome |
|
Depressed nasal bridge, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Hearing... |
ORPHA:2077 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Prominent nasal bridge, Short stature, Choan... |
OMIM:300472 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Broad nasal tip, Micrognathia, Fused cervical vertebrae, Hip d... |
ORPHA:530983 |
Short-Rib Thoracic Dysplasia 12 |
|
Polyhydramnios, Short neck, Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neo... |
OMIM:269860 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Micrognathia, Postnatal growth retardation, Patent ductu... |
ORPHA:2306 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Depressed nasal bridge, Cardiomegaly, Patent du... |
OMIM:601005 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... |
ORPHA:474 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Polyhydramnios, Short neck, ... |
ORPHA:2347 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Sclerocornea, Patent ductus arteriosus, Hemivertebra... |
ORPHA:77298 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, W... |
OMIM:617952 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Short stature, Depressed nasal bridge, Short neck, Campto... |
ORPHA:2021 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Tracheomalacia, Micrognathia, Short thumb, Pa... |
OMIM:612561 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Conductive hearing impairment, Iris... |
OMIM:102500 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Polyhydramnios, Generalized joint laxity... |
OMIM:600373 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Coloboma, Narrow greater sciatic notch, Short phalanx of finger, S... |
ORPHA:85167 |
Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clino... |
OMIM:260660 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Prox... |
OMIM:618619 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Conjunctiv... |
OMIM:606812 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Cleidocranial Dysplasia |
|
Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,... |
ORPHA:1452 |
Osteopathia Striata With Cranial Sclerosis |
|
Polyhydramnios, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, Clinodactyly of t... |
OMIM:300373 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Conductive hearing impairment, Patent foramen ovale, Abnormal vertebral morphology,... |
ORPHA:444077 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Right atrial enlargement, Rib osteolys... |
OMIM:614008 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Polyhydramnios, Femoral bowing, Narrow chest, Depressed nasal bridge, Anteverted nare... |
OMIM:618188 |
Noonan Syndrome 2 |
|
Polyhydramnios, Short neck, Micrognathia, Pectus carinatum, Abnormal sternum morphology, Atrial s... |
OMIM:605275 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Polyhydramnios, Dela... |
OMIM:114290 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short stature, Broad nasal tip, Bifid nasal tip, Hand polydactyly, Retinal colobo... |
OMIM:258865 |
Caudal Regression Syndrome |
|
Decreased muscle mass, Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal ... |
ORPHA:3027 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Patent ductus arteriosus, Delayed skeletal maturation, Coarctation of aorta, Growth... |
OMIM:614857 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot polydactyly... |
OMIM:146510 |
Alagille Syndrome 1 |
|
Long nose, Hemivertebrae, Microcornea, Atrial septal defect, Abnormal anterior chamber morphology... |
OMIM:118450 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... |
OMIM:615578 |
Cat-Eye Syndrome |
|
Short stature, Abnormal rib morphology, Hip dysplasia, Chorioretinal coloboma, Intrauterine growt... |
ORPHA:195 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ... |
OMIM:268305 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment |
OMIM:314600 |
Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Abnormal intervert... |
ORPHA:887 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous sy... |
OMIM:600920 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the uln... |
OMIM:200980 |
Aicardi Syndrome |
|
Cataract, Anteverted nares, Block vertebrae, Spina bifida, Proximal placement of thumb, Postnatal... |
OMIM:304050 |
Tarp Syndrome |
|
Micrognathia, Premature rupture of membranes, Neonatal death, Atrial septal defect, Anteverted na... |
OMIM:311900 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Microcornea, Pointed helix, Atrial septal defect, Iris coloboma,... |
ORPHA:3380 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ... |
OMIM:211350 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing ribs, Abnormal... |
ORPHA:3186 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Microcornea, Long hallux, Broad columella, Iri... |
ORPHA:2308 |
Noonan Syndrome 10 |
|
Short stature, Ventricular septal defect, Prominent corneal nerve fibers, Short neck, Pectus exca... |
OMIM:616564 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Stapes ankylosis, Anteverted nares, Short stature, Vertebral clefting, Hemivertebrae,... |
OMIM:614701 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Kyphosis, Se... |
OMIM:259420 |
Atelosteogenesis Type Iii |
|
Polyhydramnios, Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Ver... |
ORPHA:56305 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Polyhydramnios, Accelerated skeletal maturation, Pectus carinatu... |
OMIM:312870 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Facial p... |
OMIM:113650 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Decreased fetal movement, Torticollis, Absent brainstem auditory responses, Portal hypertension, ... |
OMIM:609136 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu... |
ORPHA:99050 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Remnants of the hyaloid vascular sys... |
OMIM:603671 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Diaphragmatic eventration, Ventricular septal defect, Aortop... |
OMIM:620025 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Short sta... |
OMIM:616229 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... |
ORPHA:217085 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Po... |
OMIM:263750 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Darwin tubercle o... |
OMIM:619122 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Short stature, Facial palsy, Prominent nasal bridge, Hyperlordosis, Abno... |
ORPHA:3068 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, 11 pairs of ribs, Ventricular septal defect, Dextrocardia, Posteriorly rotated ear... |
OMIM:264480 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Cataract, Severe short stature, Delayed skeletal maturation, Abnormal rib morphology, Abnormal ep... |
ORPHA:2643 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat gl... |
OMIM:224690 |
Toriello-Carey Syndrome |
|
Short stature, Abnormal pinna morphology, Hearing impairment, Short neck, Postnatal growth retard... |
ORPHA:3338 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Micromelia, Postaxial polydactyly,... |
OMIM:617895 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi... |
ORPHA:3472 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrops fetalis, Coarct... |
ORPHA:268249 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Symblepharon, Sternocleidomastoid amyotrophy, Broad nasal ... |
ORPHA:488434 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... |
ORPHA:217093 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short... |
ORPHA:264450 |
Coffin-Siris Syndrome 4 |
|
Prominent interphalangeal joints, Atrial septal defect, Pulmonary artery atresia, Thick nasal ala... |
OMIM:614609 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Bowing of the legs, Depressed nasal ridge, Knee flexion con... |
OMIM:271665 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura... |
ORPHA:93317 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Clinodactyly, Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Conductive hea... |
ORPHA:95699 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... |
OMIM:276820 |
Monosomy 9Q22.3 |
|
Cataract, Rhabdomyosarcoma, Short neck, Accelerated skeletal maturation, Kyphosis, Pectus excavat... |
ORPHA:77301 |
Cat Eye Syndrome |
|
Short stature, Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, ... |
OMIM:115470 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hemivertebrae, Anotia, Conductive hearing impairment, Limb... |
OMIM:164210 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Narrow chest, T... |
OMIM:105650 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Short stature, Choanal atresia, Midnasal stenosis, Prematu... |
ORPHA:280200 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Polyhydramnios, Cardiomegaly, Abnormal retinal artery mor... |
ORPHA:51608 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Premature birth, Congenital diaphragmatic hernia, Short n... |
ORPHA:1834 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Abnormal rib mor... |
ORPHA:2519 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Polyhydramnios, Short metatarsal, Narrow foot, Tibial bowing, Tarsometa... |
OMIM:600383 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Premature birth, Ab... |
ORPHA:974 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Growth delay, Palmoplantar keratoderma, Multiple muscular ventricular septal defects, Pulmonic st... |
OMIM:615508 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Prominent nose, Long nose, Kyphosis, Bulbous nose, Missin... |
ORPHA:2769 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Abnormal form of... |
ORPHA:1788 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Wide nose, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Hypoplasia... |
ORPHA:2463 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Neonatal death, Atrial septal defect, Diaphragmatic even... |
OMIM:608978 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Postnatal growth retardation, Hypoplasia of the cochlea, Optic disc co... |
OMIM:613398 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Short stature, Growth delay, Atrial septal defect, Double outlet right ven... |
ORPHA:1667 |
Velocardiofacial Syndrome |
|
Posterior embryotoxon, Short stature, Ventricular septal defect, Talipes, Underdeveloped nasal al... |
OMIM:192430 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Short neck, Abnormal rib morphology, Vertebral segmentation defect, Hearing impair... |
ORPHA:2578 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Pentalogy Of Cantrell |
|
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmat... |
ORPHA:1335 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Amniotic constriction r... |
ORPHA:2215 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polyda... |
OMIM:258860 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Conductive hearing impairment, Short stature, Central Y-shaped metac... |
OMIM:277170 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Sclerocornea, Abnormal fo... |
ORPHA:280 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Flexion contracture, Atrioventricular bl... |
ORPHA:581 |
Smith-Lemli-Opitz Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Proximal placement of thumb, Polyhydra... |
ORPHA:818 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Polyhydramnios, Posterior rib fusion... |
OMIM:265380 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature... |
OMIM:156230 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Abnormal morphology of ulna, Jo... |
ORPHA:2167 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Optic disc coloboma, Small hand, Rib fusion, Protruding ear, Hip d... |
ORPHA:50 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Depressed nasal ridge, Abnormal form of the vertebra... |
ORPHA:2162 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Polyhydramnios, Short neck, Micrognathia, Flexion contracture, Generalized am... |
OMIM:620369 |
Waardenburg Syndrome, Type 1 |
|
Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing impairment, Myelomening... |
OMIM:193500 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Conductive hearing impairment, Clinodac... |
OMIM:117650 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Wide nose, Long nose, Patent ductus arteriosus, Abnormal thorax morphology, Anomalous pulmonary v... |
ORPHA:2184 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct, Persistent pupillary membrane, Heterochromia iridis, Brachydactyly |
ORPHA:79414 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Cataract, Polyhydramnios, M... |
ORPHA:3301 |
Fryns Syndrome |
|
Thickened nuchal skin fold, Low-set, posteriorly rotated ears, Anteverted nares, Corneal opacity,... |
ORPHA:2059 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee flexion contracture, C... |
OMIM:151050 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ... |
ORPHA:2050 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Thick nasal alae, Joint laxity, Anteverted nares, Depressed nasal bridge, P... |
ORPHA:1465 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Tarp Syndrome |
|
Micrognathia, Atrial septal defect, Small earlobe, Low-set, posteriorly rotated ears, Finger synd... |
ORPHA:2886 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Anteverted nares, Proboscis, Cyclopia, Aortic valve atresia, Low-set e... |
OMIM:619895 |
Carpenter Syndrome 2 |
|
Short neck, Preaxial polydactyly, Coxa vara, Knee flexion contracture, Pectus carinatum, Protrudi... |
OMIM:614976 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal ... |
ORPHA:73230 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, P... |
OMIM:200610 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Atria... |
ORPHA:84 |
Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Choanal atresia, Ar... |
ORPHA:83 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activity of mitochondrial compl... |
ORPHA:17 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Cataract, Spinal rigidity, Dilated cardiomyopathy, Flexio... |
OMIM:253800 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Abnormality of the musculature of the lower limbs, Stiff... |
ORPHA:268882 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Metaphyseal widening, Tibial bowing, Barrel-shaped chest, Iris atrophy, Short stature... |
OMIM:259770 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short stature, Short neck, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral... |
ORPHA:2234 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Cortical thickening of long bone diaphy... |
ORPHA:309282 |
Dextrocardia |
|
Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormal foot mor... |
ORPHA:1666 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Low-set, posteriorly rotated ears, Rhizomelia, Kyph... |
ORPHA:263508 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... |
OMIM:605376 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Townes-Brocks Syndrome |
|
Triphalangeal thumb, Chorioretinal coloboma, Clinodactyly of the 5th finger, Atrial septal defect... |
ORPHA:857 |
Chime Syndrome |
|
Ventricular septal defect, Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalange... |
ORPHA:3474 |
Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Abnormal pinna morphology, Polyhydramnios, Micrognathia, Complete atri... |
OMIM:236680 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Hallermann-Streiff Syndrome |
|
Micrognathia, Metaphyseal widening, Chorioretinal coloboma, Iris coloboma, Spina bifida, Hyperlor... |
OMIM:234100 |
Phocomelia, Schinzel Type |
|
Micromelia, Short neck, Micrognathia, Abnormal tibia morphology, Hydrops fetalis, Protruding ear,... |
ORPHA:2879 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
Zttk Syndrome |
|
Flexion contracture, Hemivertebrae, Protruding ear, Atrial septal defect, Short stature, Depresse... |
OMIM:617140 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Pectus excavatum, Patent ductus arteriosu... |
ORPHA:2847 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity,... |
ORPHA:2751 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Myhre Syndrome |
|
Brachydactyly, Severe short stature, Cataract, Hearing impairment, Joint stiffness, Abnormal rib ... |
ORPHA:2588 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Micrognathia, Kyphosis, Patent ductus arter... |
OMIM:153400 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Conductive hearing i... |
OMIM:218600 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Recurrent pharyngitis, Vasculitis, Co... |
ORPHA:2331 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Barrel-shaped chest, Recurrent fractur... |
OMIM:610915 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Cone-shaped epiphyses of phalanges 2 to 5, Ge... |
OMIM:225500 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... |
OMIM:612852 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Short stature, Spina bifida, Micrognathia, Tracheomalacia, Kyphosis, M... |
ORPHA:1393 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Long nose, Humeral pseudarthrosis, Atrial septal defect, Conductive ... |
ORPHA:2044 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Protruding ear, Tibial bowing, Spina bifida occulta, Long hallux, Varicose veins, Large hands, Ab... |
ORPHA:500095 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Anteverted nares, Conotruncal defect, Coarctation of aorta, Growth delay, M... |
ORPHA:96147 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Short stature, Hyperopic as... |
OMIM:252600 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal pinna morphology, Coarctation of aorta, Abnormal heart morpho... |
ORPHA:261183 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short stature, Depressed nasal bridge, Postaxial polydactyly, Polyhydramnios, Patent ductus arter... |
OMIM:617088 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Talipes, Congenital diaphragmatic... |
ORPHA:1647 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Patellar hypoplasia, Bifid nose, Ta... |
ORPHA:1827 |
Alagille Syndrome 2 |
|
Posterior embryotoxon, Long nose, Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralog... |
OMIM:610205 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Pectus excavatum, Patent du... |
ORPHA:1519 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Micrognathi... |
OMIM:216340 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe... |
OMIM:304150 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Myocardia... |
ORPHA:904 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Short stature, Anteverted nares, Hearing impair... |
OMIM:619727 |
1P36 Deletion Syndrome |
|
Depressed nasal ridge, Clinodactyly of the 5th finger, Conductive hearing impairment, Low-set, po... |
ORPHA:1606 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Renpenning Syndrome 1 |
|
Micrognathia, Narrow foot, Protruding ear, Coloboma, Clinodactyly of the 5th finger, Atrial septa... |
OMIM:309500 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Thickened nuchal skin fold, Tricuspid regurgitation, Short femur, Cardiomegaly, Talipes equinovar... |
OMIM:620306 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl... |
ORPHA:988 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Atrial septal defect, Prominen... |
OMIM:135900 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, At... |
OMIM:268300 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Atrial septal defect, Clinodactyly of the 5th finge... |
OMIM:607872 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... |
ORPHA:1506 |
Beckwith-Wiedemann Syndrome |
|
Otosclerosis, Prominent metopic ridge, Premature birth, Diastasis recti, Congenital diaphragmatic... |
ORPHA:116 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Short stature, Micrognathia, Abnormal rib morphology, Abnormality of the vertebral column, Conduc... |
OMIM:601076 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp... |
ORPHA:436 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Short neck, Micrognathia, Hydrops fetalis, Narrow chest, Atrial septal defect, Pa... |
OMIM:613610 |
Esophageal Atresia |
|
Ventricular septal defect, Choanal atresia, Polyhydramnios, Laryngotracheomalacia, Abnormality of... |
ORPHA:1199 |
Ulbright-Hodes Syndrome |
|
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, Phocomelia, Short metacarpal, Depressed ... |
ORPHA:3404 |
Aspergillosis |
|
Osteomyelitis, Keratitis, Abnormal rib morphology, Intracranial hemorrhage, Abnormal long bone mo... |
ORPHA:1163 |
Pallister-Hall Syndrome |
|
Depressed nasal ridge, Hemivertebrae, Atrial septal defect, Atrioventricular canal defect, Micror... |
ORPHA:672 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Radio-Renal Syndrome |
|
Severe short stature, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, Hypoplasia of... |
ORPHA:3015 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus... |
ORPHA:3097 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Split hand, Clubbin... |
OMIM:600460 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Choanal stenosis, Broad ri... |
ORPHA:798 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... |
OMIM:618280 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Patent foramen ovale,... |
OMIM:619127 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Protruding ear, Patent foramen ovale, Simple ear, Joint laxity, Short stature, Ante... |
OMIM:619325 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Short neck, Dumbbell-shaped long bo... |
ORPHA:3144 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micromelia, Micrognathia, Depressed nasal ridge, Abnormality of the ear, Condu... |
ORPHA:2753 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Short stature, Ventricular septal defect, Tarsal synostosis, Patent ductus art... |
ORPHA:2473 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Abnormal pulmonary valve morphology, Recurrent fractures, Craniosynosto... |
ORPHA:667 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Short stature, Sudden cardiac death, Spina bifida, S... |
ORPHA:991 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,... |
OMIM:602196 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Chorioretinal coloboma, Atrial septal defect, 2-4 finger s... |
OMIM:107480 |
Fryns Syndrome |
|
Proximal placement of thumb, Short neck, Polyhydramnios, Prominent fingertip pads, Atrial septal ... |
OMIM:229850 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
Phace Syndrome |
|
Cataract, Cerebral arteriovenous malformation, Sclerocornea, Lens coloboma, Abnormal heart morpho... |
ORPHA:42775 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Micromelia, Short iliac bones, Horizontal ribs, Short thor... |
ORPHA:3003 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Premature birth, Tracheomalacia, Cardiomegaly, Patent ductus arteriosu... |
ORPHA:95430 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Congenital diaphragmatic h... |
ORPHA:261112 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Elsahy-Waters Syndrome |
|
Wide nose, Brachydactyly, Anteverted nares, Cataract, Posteriorly rotated ears, Bifid nasal tip, ... |
OMIM:211380 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Cataract, Short stature, Sclerocornea, Patent ductus arteriosus, Double inlet left ve... |
OMIM:619869 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Underdeveloped nasal alae, ... |
ORPHA:306542 |
Kleefstra Syndrome 1 |
|
Anteverted nares, Abnormal pinna morphology, Hearing impairment, Conotruncal defect, Macroglossia... |
OMIM:610253 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Anotia, Clinodactyly of the 5th finger, Microtia, third degree, Aplastic clavicle, ... |
ORPHA:2554 |
Oculocerebrorenal Syndrome Of Lowe |
|
Micrognathia, Abnormal pupil morphology, Protruding ear, Lentiglobus, Chronic otitis media, Low-s... |
ORPHA:534 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Joint stiffness, Split hand, Ab... |
ORPHA:1300 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery... |
OMIM:100300 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Uplifted earlobe, Abnormal pupil morphology, Flexion contracture, Calcaneo... |
ORPHA:261552 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Anencephaly, Transposition of the grea... |
OMIM:313850 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Conotruncal defect, Micrognathia |
OMIM:243440 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Distal Renal Tubular Acidosis |
|
Short stature, Osteomalacia, Sensorineural hearing impairment, Bone pain, Rickets, Reduced bone m... |
ORPHA:18 |
Homozygous Familial Hypercholesterolemia |
|
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... |
OMIM:601992 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Telangiectasia of the skin, Short stature, Camptodactyly of finger, Abnormal r... |
ORPHA:2907 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Corneal opacity, Camptodactyly of finger, Flexion contracture, Abnormal rib mo... |
ORPHA:2908 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Anteverted nares, 2-3 toe syndactyly, Oligohydramnios, Short foot, Hearing impairment |
OMIM:616351 |