Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Narrow g... |
OMIM:228520 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... |
OMIM:602613 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pectus excavatum, Everted lower lip vermilion, Spina bifida occulta, Short toe, Short nose, Obstr... |
OMIM:617877 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Limb under... |
OMIM:269250 |
Femoral-Facial Syndrome |
|
Micrognathia, Long penis, Short femur, Abnormal rib morphology, Cleft palate, Talipes equinovarus... |
ORPHA:1988 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
Dysosteosclerosis |
|
Short diaphyses, Optic atrophy, Delayed eruption of teeth, Micrognathia, Sclerotic scapulae, Hypo... |
OMIM:224300 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Micrognathia, Hip dislocation, Dislocated radial head, Narrow greater sciatic notch, Talipes equi... |
OMIM:602471 |
Tarp Syndrome |
|
Wide nasal bridge, Optic atrophy, Micrognathia, Pectus excavatum, Abnormal corpus callosum morpho... |
OMIM:311900 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Flexion contracture, High palate, Rhizomelia, Wide nasal bridge, Irregular vertebral endplates, M... |
OMIM:222765 |
Cleidocranial Dysplasia |
|
Tapered finger, Delayed eruption of teeth, Micrognathia, Hypoplastic inferior ilia, Spina bifida ... |
ORPHA:1452 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Atrioventricular canal defect, Genu valgum, Overhanging nasal tip, Short philtrum,... |
OMIM:619142 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Wide nasal bridge, Micrognathia, Camptodactyly, Butterfly vertebrae, Posterior rib gap, Short nec... |
OMIM:611209 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Horizontal ribs, Thoraci... |
ORPHA:1505 |
Tarp Syndrome |
|
Cyanosis, Wide nasal bridge, Optic atrophy, Micrognathia, Pectus excavatum, Abnormal corpus callo... |
ORPHA:2886 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Micrognathia, Secundum atrial septal defect, Camptodactyly, Redundant ne... |
OMIM:249420 |
Marshall-Smith Syndrome |
|
Irregular dentition, Hallux valgus, Recurrent aspiration pneumonia, Microdontia, Atlantoaxial dis... |
OMIM:602535 |
3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Everted lower lip vermilion, Short n... |
ORPHA:2616 |
Omodysplasia 2 |
|
Wide nasal bridge, Micrognathia, Dislocated radial head, Hypoplastic distal humeri, Limited elbow... |
OMIM:164745 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Hip dislocation, Butterfly vertebrae, Short neck, Uterus didelphys, Rudimentary to ... |
ORPHA:958 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Clinodactyly of the 5th toe, Smooth philtrum, Postnatal growth retardation, Short sternum, Patent... |
OMIM:620113 |
Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Optic atrophy, Delayed eruption of teeth, Micrognathia, Elbow flexion contrac... |
OMIM:122470 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic facial bones, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bod... |
OMIM:223800 |
Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... |
OMIM:108720 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Patellar hypoplasia, Pneumothorax, Abnormal breath sound, Asthma, Micrognathia, Secundu... |
ORPHA:2257 |
Acrodysostosis |
|
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Abnormal form of the vertebra... |
ORPHA:950 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Respiratory insufficiency, Primary microcephaly, Micrognathia, Secundum atrial septal defect, Sho... |
OMIM:608779 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Disproportionate short-... |
OMIM:200600 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aplasia of the 1st metacarpal, 2-3 toe syndactyly, Tapered finger, Primary microcephaly, Microgna... |
ORPHA:476126 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Microdontia, Narrow pelvis bone, Limited elbow extension, Pseudoepiphyses of ... |
OMIM:210720 |
Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Metaphyseal cupping, Short thorax, Short foot, Abnormal carpal morphology, Platyspond... |
ORPHA:85166 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, Convex nasal ridge, High palate, Wide nasal bridge, Perimembranous ventricular sept... |
OMIM:618804 |
Hamamy Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Pectus excavatum, Everted lower lip vermilion, S... |
OMIM:611174 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Pectus excavatum, Dislocated ra... |
OMIM:186500 |
Campomelic Dysplasia |
|
Irregular dentition, Short phalanx of finger, Thoracic hypoplasia, Hallux valgus, Micrognathia, H... |
OMIM:114290 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Horizontal ribs, Micrognathia, Lateral clavicle hook, Short neck, Septate vagina, Cl... |
OMIM:617925 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Cleft upper lip, 2-3 toe syndactyly, Short 5th finger, Ventricular septal defec... |
OMIM:600987 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones, Abnormal 3rd metac... |
ORPHA:93320 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Respiratory insufficiency, Spina bifida occulta, Short neck, Abnormal ri... |
ORPHA:2311 |
Osteoglophonic Dysplasia |
|
Short phalanx of finger, Limb undergrowth, Short neck, Short palm, Pseudoarthrosis, Increased sus... |
OMIM:166250 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Ambiguous genitalia, Hypodysplasia of the corpus callosum, Micrognathia, Short neck, Cleft palate... |
OMIM:257300 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Short neck, Arthrogryposis multiplex co... |
OMIM:620076 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Wide nasal bridge, Vertebral segmentation defect, Missing ribs, Post... |
ORPHA:1797 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Coxa valga, Thoracic hypoplasia, Wide nasal bridge, Micrognathi... |
ORPHA:96334 |
Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Short first metatarsal, Short 1st metacarpal, Death in infancy, Wi... |
OMIM:619135 |
Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Respiratory insufficiency, Ambiguous genitalia, Thoracic dysplasia, Median cleft... |
OMIM:269860 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Ventricular septal defect, Short stature, Micrognathi... |
ORPHA:1388 |
Van Den Ende-Gupta Syndrome |
|
Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... |
OMIM:600920 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Micrognat... |
ORPHA:1507 |
Cleidocranial Dysplasia 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Short middle phalanx of the 2nd finger, Increased... |
OMIM:119600 |
Monosomy 18Q |
|
Tapered finger, Secundum atrial septal defect, Biparietal narrowing, Pectus excavatum, Talipes eq... |
ORPHA:1600 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Short femur, Femoral bowing, Brachydactyly, ... |
ORPHA:440354 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid tongue, Wide nasal bridge, Micrognathia, Hypoplastic labia majora, Pectus excavatum, Disloc... |
OMIM:268310 |
Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Hypoplastic acetabulae, Hypoplastic facial bones, Beaking of vertebral b... |
OMIM:607326 |
Momo Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, Short sternum, Abnormal bone ossification, High p... |
ORPHA:2563 |
17Q21.31 Microduplication Syndrome |
|
High palate, Toe syndactyly, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Short ... |
ORPHA:217340 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
2-3 toe syndactyly, Complete duplication of thumb phalanx, Long philtrum, Perisylvian polymicrogy... |
OMIM:619121 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Short metatarsal, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular... |
ORPHA:1856 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Short humerus, Short ... |
OMIM:250215 |
Holt-Oram Syndrome |
|
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Pectus excavatum, Phocom... |
OMIM:142900 |
Cenani-Lenz Syndrome |
|
Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, ... |
ORPHA:3258 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Wide nose, Patent foramen ovale, Rhizomelia, Short ribs, Hypoplasia of the radius, S... |
OMIM:607143 |
Campomelic Dysplasia |
|
Respiratory insufficiency, Ambiguous genitalia, Micrognathia, Hypoplastic inferior ilia, Hip disl... |
ORPHA:140 |
Crane-Heise Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Aplastic clavicle, Finger syndactyly, Toe syndactyly, ... |
ORPHA:1512 |
Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, Posterior rib ga... |
OMIM:117650 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Wide nasal bridge, Aplasia/hypoplasia of the femur, Micrognathia, Toe sy... |
OMIM:609945 |
Cousin Syndrome |
|
Wrist flexion contracture, 2-3 toe syndactyly, Anterior rounding of vertebral bodies, Humeroradia... |
OMIM:260660 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Wide nasal bridge, Shawl scrotum, Short long... |
ORPHA:2256 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Hypoplastic labia majora... |
ORPHA:97360 |
Chromosome 9P Deletion Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th toe, Short neck, Thin ve... |
OMIM:158170 |
Turnpenny-Fry Syndrome |
|
Tapered finger, Microdontia, Prominent nasal tip, Pectus excavatum, Overlapping toe, Hypoplasia o... |
OMIM:618371 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Thick upper lip vermilion, Camptodactyly, Overlapping toe, Smooth philtrum, Thin lower lip vermil... |
ORPHA:363444 |
Atelosteogenesis, Type Ii |
|
Respiratory insufficiency, Thoracic hypoplasia, Micrognathia, Limb undergrowth, Short neck, Cleft... |
OMIM:256050 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Dentinogenesis imperfecta,... |
OMIM:184260 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morphology, Micrognathia, Epip... |
OMIM:308050 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Diamond-Blackfan Anemia 7 |
|
Triphalangeal thumb, Ventricular septal defect, Secundum atrial septal defect, Small hypothenar e... |
OMIM:612562 |
Ulbright-Hodes Syndrome |
|
Ovoid thoracolumbar vertebrae, Convex nasal ridge, Pneumothorax, Humeroradial synostosis, Microgn... |
ORPHA:3404 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Respiratory insufficiency, Broad ribs, Wide anterior... |
ORPHA:2021 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Hyperlordosis, Genu valgum, Mandibular prognathia, Rhizomelia, Short metacarpal, Coxa ... |
ORPHA:2831 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Temporomandibular joint ankylosis, Micrognathia, Aplasia/Hypoplasia of fing... |
ORPHA:141152 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pierre-Robin sequence, Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility... |
OMIM:602196 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Aplasia/hypoplasia of the fe... |
OMIM:134780 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Res... |
ORPHA:1832 |
Autosomal Dominant Omodysplasia |
|
Ambiguous genitalia, Rhizomelia, Long philtrum, Bifid scrotum, Short 1st metacarpal, Micrognathia... |
ORPHA:93328 |
Codas Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Delayed eruption of teeth, Genu valgum, G... |
OMIM:600373 |
Thanatophoric Dysplasia, Type Ii |
|
Respiratory insufficiency, Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Short greater ... |
OMIM:187601 |
Agnathia-Otocephaly Complex |
|
Wide nose, Mandibular aplasia, Micrognathia, Secundum atrial septal defect, Agenesis of corpus ca... |
OMIM:202650 |
Momo Syndrome |
|
Short sternum, Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed erupti... |
OMIM:157980 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short lingual frenulum, Microdontia, Thoracic dysplasia, Short uvula, Cleft palate, ... |
OMIM:614091 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Short stature, Fi... |
ORPHA:166016 |
Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Pectus excavatum, Hyperphalangy of the 2nd... |
OMIM:616145 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Everted upper lip vermilion, Deep philtrum, Hallux v... |
OMIM:619951 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Camptodactyly of finger, Short phalanx of finger, Shoulder dislocation, Flexion contracture, Vent... |
OMIM:143095 |
Baller-Gerold Syndrome |
|
Absent thumb, Aplasia of metacarpal bones, Optic atrophy, Micrognathia, Bifid uvula, Short humeru... |
OMIM:218600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Respiratory insufficiency, Hypoplasia of the frontal lobes, Flexion contracture, Micrognathia, El... |
OMIM:210710 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp... |
OMIM:212780 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Ventricular septal defect, Bicornuate uter... |
OMIM:264480 |
Ogden Syndrome |
|
Thick upper lip vermilion, Metatarsus valgus, Everted upper lip vermilion, Wide nasal bridge, Min... |
OMIM:300855 |
Distal Trisomy 5Q |
|
Absent thumb, Long philtrum, Short stature, Ventricular septal defect, Hypoplasia of the radius, ... |
ORPHA:96097 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Cerebral cortical atrophy, Coxa valga, Micrognathia, Flared iliac wing, Atlantoa... |
OMIM:252500 |
Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognat... |
OMIM:227270 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Long thorax, Abnormal palate ... |
ORPHA:1277 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Thoracic hypoplasia, Wide nasal bridge, Micrognathia, Short femur, Pleural e... |
OMIM:616897 |
Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Cleft palate, Talipes equi... |
OMIM:211350 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Short stature, Delayed eruption of teeth, Ab... |
ORPHA:166272 |
Thanatophoric Dysplasia, Type I |
|
Thoracic hypoplasia, Severe platyspondyly, Short neck, Metaphyseal irregularity, Short ribs, Disp... |
OMIM:187600 |
Meier-Gorlin Syndrome 7 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Dislocated radial head, Cleft pala... |
OMIM:617063 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Finger syndactyly, Short stature, Abnormality of the elbow, Radiouln... |
ORPHA:3268 |
Non-Distal Trisomy 10Q |
|
Convex nasal ridge, High palate, Short stature, Micrognathia, Short nose, Everted lower lip vermi... |
ORPHA:1695 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Radial deviation of finger, Postnatal growth retardation, Talipes equ... |
OMIM:301040 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... |
OMIM:274000 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Abnormal metaphysis morphology, Abnormal cardiac septum morphology, Hip dysplasia,... |
ORPHA:2370 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Contractures of the large joints, Metaphyseal cupping, Short femoral ne... |
OMIM:616716 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Retrognathia, Wide mouth, Secundum atrial septal defect, Clinodactyly of the 5th finger, Cutis ma... |
OMIM:619758 |
Alagille Syndrome |
|
Ventricular septal defect, Butterfly vertebral arch, Micrognathia, Vertebral segmentation defect,... |
ORPHA:52 |
Nemaline Myopathy 9 |
|
Respiratory insufficiency, High palate, Ventricular septal defect, Micrognathia, Scoliosis, Narro... |
OMIM:615731 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Advanced pneumatizatio... |
ORPHA:85188 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Short... |
OMIM:619110 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent foramen ovale, High palate, Ventricular septal defect, Coronary artery fistula, Micrognath... |
OMIM:619343 |
Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Kyphosis, Tongue nodules, Microdontia, Bifid uvula, Supernumerary to... |
OMIM:258850 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypoplastic labia majora, Thickened cortex of long bones, Short neck, Postaxial hand polydactyly,... |
OMIM:269150 |
Cog1-Cdg |
|
Coxa valga, Wide nasal bridge, Micrognathia, Butterfly vertebrae, Posterior rib gap, Short neck, ... |
ORPHA:263508 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Respiratory insufficiency, Increased bone mineral density, Micrognathia,... |
ORPHA:628 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Aplasia/Hypoplasia of the thumb, Genu varum, Long philtrum, Short stature, ... |
OMIM:171480 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nasal bridge, Micrognathia, Recurrent sinusitis, Pectus excavatum, Overlapping toe, Short ne... |
OMIM:213980 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... |
OMIM:309350 |
Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Distal shortening of limbs, Hip disloca... |
OMIM:146510 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Increased carrying ang... |
OMIM:127300 |
Donnai-Barrow Syndrome |
|
Short sternum, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Wide anterio... |
OMIM:222448 |
Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Long philtrum, Perineal hypospadias, Bifid scrotum, Cutis laxa,... |
ORPHA:3134 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Pectus excavatum, Spina bifida occulta, Hypertrophic cardiomyopathy,... |
OMIM:151100 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Wide nas... |
ORPHA:508498 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short stature, Micrognathia, Abnormal vertebral morphology, Short nose, Thin upper lip vermilion,... |
ORPHA:2015 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Ventricular septal defect, Toe syndactyly, Micrognathi... |
ORPHA:261120 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Absence of labia majora, Micrognathia, Pectus excavatum, Spina bifida oc... |
ORPHA:2990 |
Arboleda-Tham Syndrome |
|
Optic atrophy, Recurrent aspiration pneumonia, Primary microcephaly, Secundum atrial septal defec... |
OMIM:616268 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ambiguous genitalia, Rhizomelia, Wide nasal bridge, Ventricular septal defect, Narrow chest, Micr... |
ORPHA:93267 |
Perching Syndrome |
|
Cyanosis, High palate, Camptodactyly, Respiratory distress, Depressed nasal bridge, Scoliosis, Jo... |
OMIM:617055 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short stature, Supernumerary ribs, Hypoplasia of the ulna, Short femur... |
OMIM:612447 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ulna, Everted lower lip v... |
OMIM:615162 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Choanal stenosis, Cerebral cortical atrophy, Pierre-Robin sequence, Cleft soft palate, Primary mi... |
OMIM:620183 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Ambiguous genitalia, Flexion contracture, Absent thumb, Micrognathia, Hy... |
OMIM:263650 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Global brain atrophy, Short 5th finger, Truncus arteriosus, Cleft ... |
ORPHA:508488 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ulna, Everted lower lip v... |
ORPHA:357175 |
Saethre-Chotzen Syndrome |
|
Convex nasal ridge, Hallux valgus, Toe syndactyly, Cleft of chin, Partial duplication of the dist... |
OMIM:101400 |
3C Syndrome |
|
Atrioventricular canal defect, Ectopic anus, Wide nasal bridge, Optic atrophy, Micrognathia, Shor... |
ORPHA:7 |
Wolf-Hirschhorn Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Optic atrophy, Micrognathia, Abnormal lip ... |
ORPHA:280 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Perimembr... |
OMIM:618205 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Short stature, Atrial septal defe... |
ORPHA:52056 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Restrictive cardiomyopathy, High palate, Long philtrum, Deep philtrum, Cerebellar hypoplasia, Mac... |
OMIM:615398 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Hand clenching, Optic atrophy, Death in infancy, Micrognathia, Agenesis of corpus callosum, Parie... |
OMIM:618766 |
Distal Monosomy 17Q |
|
Respiratory insufficiency, Abnormality of the philtrum, Aplasia/Hypoplasia of the thumb, Short th... |
ORPHA:1597 |
Pontocerebellar Hypoplasia, Type 17 |
|
Respiratory insufficiency, Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Ventric... |
OMIM:619909 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Ambiguous genitalia, Bifid tongue, Thoracic hypoplasia, Lateral clavicle hook, C... |
OMIM:613091 |
Zttk Syndrome |
|
Flexion contracture, Wide nasal bridge, Optic atrophy, Bifid uvula, Cervical ribs, Intestinal atr... |
OMIM:617140 |
Down Syndrome |
|
Atrioventricular canal defect, Redundant neck skin, Short palm, Hypoplastic iliac wing, Patent fo... |
OMIM:190685 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Coxa valga, Delayed eruption of teeth, Microdontia, Dislocated radial head, Spina ... |
OMIM:135900 |
Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:200980 |
Scarf Syndrome |
|
Short sternum, Enamel hypoplasia, Long philtrum, Perineal hypospadias, Bifid scrotum, Coronal cra... |
OMIM:312830 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Wide nasal bridge, Elbow dislocation, Madelung deformity... |
ORPHA:240 |
Postaxial Acrofacial Dysostosis |
|
Conical tooth, Midgut malrotation, Cleft upper lip, Supernumerary vertebrae, Hypoplasia of the ra... |
OMIM:263750 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Choanal at... |
OMIM:607323 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... |
OMIM:173800 |
Ring Chromosome 12 Syndrome |
|
Uterine leiomyoma, Secundum atrial septal defect, Clinodactyly, Abnormal 5th finger morphology, P... |
ORPHA:1439 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Short stature, Humeroradial synostosis, Elbow flexion... |
ORPHA:93333 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Optic atrophy, Death in infancy, Cerebellar hypoplasia, Micrognathia, Respiratory di... |
OMIM:615042 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Abnormal metaphysis morphology, Short ribs, Narrow c... |
ORPHA:3144 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Flexion contracture, Humeroradial synostosis, Elbow flexion contracture, Nar... |
ORPHA:95699 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect, Tapered finger, Wide nasal bridge, Micrognathia, Overlapping toe, ... |
OMIM:613792 |
Thrombocytopenia-Absent Radius Syndrome |
|
Coxa valga, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Cervical ribs, Pho... |
ORPHA:3320 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia, Depressed... |
OMIM:277150 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Ambiguous genitalia, Aplasia/hypoplasia of the femur, Micrognathia, Disl... |
ORPHA:2839 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:1354 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Flexion contracture, High palate, Secundum atrial septal defect, Microretro... |
OMIM:616866 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Enamel hypoplasia, Short stature, Wide mouth, Secundum atrial septal defect, Bifid uvula, Cerebel... |
OMIM:615802 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Short stature, Femoral retroversion, Kyphosis, Macroglossia, Death in early adulthood, Scoliosis,... |
ORPHA:79107 |
Myopathic Ehlers-Danlos Syndrome |
|
Foot joint contracture, Flexion contracture, Tapered finger, Multiple joint contractures, Microgn... |
ORPHA:536516 |
Wolf-Hirschhorn Syndrome |
|
Periventricular cysts, Precocious puberty, Convex nasal ridge, Wide nasal bridge, Micrognathia, H... |
OMIM:194190 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Short stature, Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Super... |
OMIM:609813 |
Tetrasomy 9P |
|
Convex nasal ridge, Abnormal cardiac septum morphology, Micrognathia, Bifid uvula, Lissencephaly,... |
ORPHA:3310 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Flexion contracture, Wide nasal bridge, Micrognathia, Clubbing of fing... |
ORPHA:1865 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Bulbous nose, Low hanging columella, Atrial septal defect, Contrac... |
OMIM:618109 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Flexion contracture, Premature thelarche, Convex nasal ridge, Wide nasal bridge, Hyp... |
OMIM:180849 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Short stature, Abnormality of the elbow, Hypoplasia of penis, Abnormality of th... |
ORPHA:2491 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ... |
ORPHA:79345 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Lobulated tongue, Short sternum, Thoracic kyphosis, Bifid uvula, Cerebellar ... |
ORPHA:2752 |
Diamond-Blackfan Anemia 21 |
|
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Short stature, ... |
OMIM:620072 |
Brachydactyly Type A1 |
|
Short foot, Short stature, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, ... |
ORPHA:93388 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Micrognathia, Pyloric stenosis, Abnormal aortic valve morphology, Hand polydactyly, Abnormal vert... |
ORPHA:261197 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femoral neck, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Convex nasal ridge, Finger joint hypermobility, Prominent nasal tip, Butterfl... |
OMIM:618870 |
Wiedemann-Rautenstrauch Syndrome |
|
Flexion contracture, Convex nasal ridge, Delayed eruption of teeth, Micrognathia, Secundum atrial... |
OMIM:264090 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Wide nasal bridge, Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Ce... |
OMIM:312870 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Abnormal cardiac septum morphology, Micrognathia, Redundant neck skin, Short neck, Cleft palate, ... |
OMIM:217980 |
Lethal Recessive Chondrodysplasia |
|
Short long bone, Micrognathia, Flared elbow metaphyses, Macroglossia, Generalized osteosclerosis,... |
ORPHA:1423 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Ambiguous genitalia, Ventricular septal defect, Wide nasal bridge, Opt... |
OMIM:272440 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Ambiguous genitalia, Respiratory failure, Thoracic hypoplasia, Long philtrum, Hy... |
OMIM:617895 |
C Syndrome |
|
Wide nasal bridge, Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial head, Limb un... |
OMIM:211750 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Hallux valgus, Toe syndactyly, Pectus excavatum, Scapular winging, Abnor... |
ORPHA:1327 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Limb undergrowth, Short nec... |
OMIM:151210 |
Pallister-Hall-Like Syndrome |
|
Short stature, Short ribs, Toe syndactyly, Micrognathia, Death in infancy, Macrocephaly, Hip disl... |
OMIM:241800 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Short stature, Wide nasal bridge, Clinodactyly, Pectus excavatum, Everted lower lip vermilion, Br... |
ORPHA:73273 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Flexion contracture, Multiple joint contractures, Absence of labia majora, Micrognathia, Dysplast... |
OMIM:265000 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Abnormal cardi... |
ORPHA:1352 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short phalanx of finger, Multiple joint contractures, Secundum atrial septal defect, Abnormal glo... |
ORPHA:99646 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Wide nasal br... |
OMIM:258315 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Urethral atresia, Atrioventricular canal defect, Esophageal atresia, Transposition... |
OMIM:314390 |
Juberg-Hayward Syndrome |
|
Wide nose, Abnormality of the elbow, Abnormal finger morphology, Hypoplasia of the radius, Toe sy... |
ORPHA:2319 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Ectopic anus, Pectus excavatum, Spina bifida occulta, Short neck, Vertebral fusion, Short thorax,... |
OMIM:613686 |
Seckel Syndrome 1 |
|
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:210600 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Increased bone mineral density, Micrognathia, Short neck, Flattened epiphysis, Ovoid ... |
ORPHA:163649 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... |
ORPHA:75508 |
Cranioectodermal Dysplasia 1 |
|
Wide nasal bridge, Microdontia, Pectus excavatum, Everted lower lip vermilion, Radial deviation o... |
OMIM:218330 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... |
ORPHA:1248 |
Pancreatic And Cerebellar Agenesis |
|
Convex nasal ridge, Flexion contracture, Agenesis of cerebellar vermis, Death in infancy, Cerebel... |
OMIM:609069 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... |
ORPHA:457395 |
Fetal Akinesia Deformation Sequence 4 |
|
Retrognathia, 11 pairs of ribs, Prenatal death, High palate, Wide nasal bridge, Kyphosis, Microgn... |
OMIM:618393 |
Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Short stature, Humeroradial synostosis, Abnormality of the elbow, Abnormal mor... |
ORPHA:2019 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe... |
OMIM:216340 |
Branchiooculofacial Syndrome |
|
Premature graying of hair, Micrognathia, Elbow flexion contracture, Short neck, Cleft of chin, Cl... |
OMIM:113620 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Overhanging nasal tip, Prominent nose, Long philtrum, Secundum atrial septal defect, Narrow nasal... |
OMIM:618665 |
Moebius Syndrome |
|
Short phalanx of finger, Micrognathia, Bifid uvula, Camptodactyly, Facial diplegia, Radial deviat... |
OMIM:157900 |
Acromicric Dysplasia |
|
Long philtrum, Short metacarpal, Small hand, Thick lower lip vermilion, Fifth metacarpal with uln... |
ORPHA:969 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, High palate, Small hand, Clinodactyly, Short nose, Cubitus valgus, Short foot, ... |
OMIM:300577 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sc... |
OMIM:156530 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... |
ORPHA:93359 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Short stature, Hypoplasia of the radius, Bicuspid aortic... |
OMIM:614900 |
W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Submucous clef... |
ORPHA:2804 |
Occipital Horn Syndrome |
|
Convex nasal ridge, Coxa valga, Short humerus, Pelvic bone exostoses, Pectus excavatum, Limited e... |
OMIM:304150 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Short stature, Death in infancy, Optic atrophy, Micrognathia, Short nose... |
ORPHA:1495 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Short femoral neck, Shor... |
OMIM:618395 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Intervertebral space narrowing, Capitate-hamate fusion, Short stature, Co... |
OMIM:614078 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Micrognathia, Short neck, Limited elbow extension, Cleft palate, Postnatal growth... |
OMIM:300882 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, Sacral dimple,... |
OMIM:616331 |
Aicardi Syndrome |
|
Precocious puberty, Optic atrophy, Butterfly vertebrae, Cleft palate, Optic disc coloboma, Polymi... |
ORPHA:50 |
Pierpont Syndrome |
|
Everted lower lip vermilion, Short neck, Smooth philtrum, Deep palmar crease, Short palm, Short t... |
OMIM:602342 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Wide nasal bridge, Limb undergrowth, Short metatarsal, Short thorax, Res... |
OMIM:617102 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Median cleft lip, Duplication of phalanx of hallux, Bifid uterus, Postaxial hand po... |
OMIM:236680 |
Periventricular Nodular Heterotopia 7 |
|
2-3 toe syndactyly, Micrognathia, Elbow contracture, Contracture of the proximal interphalangeal ... |
OMIM:617201 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Convex nasal ridge, Humeroradial synostosis, Micrognathia, Short neck,... |
OMIM:251230 |
Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal metaphysis morphology, Kyphos... |
ORPHA:2635 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Short stature, Hypoplasia of the radius, Carpal ... |
OMIM:112910 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Long philtrum, Perimembranous ventricular septal defect, Death in infancy, Camptodactyly, Short n... |
OMIM:608104 |
Halperin-Birk Syndrome |
|
Flexion contracture, High palate, Optic atrophy, Perimembranous ventricular septal defect, Aspira... |
OMIM:618651 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, High palate, Long philtrum, Short stature, Primary microcephaly, Micrognathia, Bil... |
OMIM:613544 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, 2-3 toe syndactyly, Double outlet right ventricle, High palate, Wide nasal bridge, Micr... |
ORPHA:3304 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Oral ulcer, High palate, Perianal abs... |
OMIM:612541 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Wide mouth, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Short nose, T... |
OMIM:615419 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Patent foramen ovale, Ventricular septal defect, Short stature, Optic atrophy, Clinoda... |
OMIM:614261 |
Becker Nevus Syndrome |
|
Abnormality of the scrotum, Kyphosis, Supernumerary ribs, Hypoplastic labia minora, Pectus excava... |
ORPHA:64755 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Respiratory insufficiency, Abnormal lower lip morphology, Cerebral cortical atrophy, Ventricular ... |
ORPHA:1166 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Elbow flexion contracture, Dislocated radial head, Narrow nose, Forearm undergrowth, Severe postn... |
OMIM:249600 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Short stature, Acrocyanosis, Scapular winging, Narrow mouth, Sprengel ... |
ORPHA:2901 |
Fetal Trimethadione Syndrome |
|
Ambiguous genitalia, High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, ... |
ORPHA:1913 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Bifid ribs, Cleft upper lip, Cerebral cortical atrophy, Wide mouth, Short stature, Nar... |
ORPHA:1394 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Retrognathia, Abnormal metaphysis morphology, Vertebral segmentation def... |
ORPHA:2631 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Rhizomelic arm shortening, Short lower limbs, Secundum atrial septal defect, Abnormal fibular epi... |
ORPHA:96190 |
Fanconi Anemia |
|
Abnormal testis morphology, Abnormal cardiac septum morphology, Toe syndactyly, Micrognathia, Hip... |
ORPHA:84 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Short nose, Delayed erupti... |
OMIM:618506 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, 2-3 toe syndactyly, Wide nasal bridge, Smooth philtrum, Cleft palate, Short n... |
OMIM:614701 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Short stature, Abnormal cardiac septum morpho... |
ORPHA:1937 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Respiratory insufficiency, Respiratory failure, High palate, Respiratory... |
OMIM:614399 |
Achondrogenesis Type 1B |
|
Short thorax, Long philtrum, Abnormal enchondral ossification, Narrow chest, Micrognathia, Macroc... |
ORPHA:93298 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Finger syndactyly, Short stature, Micrognathia, Brachydactyly, Short nose, Ab... |
ORPHA:2145 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Cleft palate, Short palm, Postnatal growth retardation, Patent foramen ovale, Atrial septal defec... |
OMIM:619184 |
Bullous Dystrophy, Hereditary Macular Type |
|
Tapered finger, Short finger, Acrocyanosis, Severe short stature, Microcephaly, Death in childhood |
OMIM:302000 |
Achondrogenesis Type 1A |
|
Short thorax, Abnormal enchondral ossification, Long philtrum, Recurrent fractures, Short foot, M... |
ORPHA:93299 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flexion contracture, Wide nasal bridge, Optic atrophy, Overlapping toe, Broad columella, Hypertro... |
OMIM:619383 |
Yunis-Varon Syndrome |
|
Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist... |
ORPHA:3472 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Convex nasal ridge, Micrognathia, Microdontia, Broad hallux,... |
ORPHA:251028 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Clinodactyly of the 5th finger, Pectus excavatum, Toe clinodactyly... |
OMIM:619910 |
Rhizomelic Syndrome, Urbach Type |
|
Micrognathia, Hip dislocation, Short neck, Cleft palate, Abnormality of the tongue, Abnormal form... |
ORPHA:3098 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Micrognathia, Pectus excavatum, Scapular w... |
OMIM:617061 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Wide nasal bridge, Micrognathia, Camptodactyly, Broad hallux, Absent uvula, Gi... |
OMIM:618529 |
8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Enlarged thorax, Tapered finger, Wide nasal bridge, Abnormal cardi... |
ORPHA:251071 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral fusion, Back pain, Short stature, Block vertebrae, Death in infancy, Vertebral segmenta... |
OMIM:277300 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Finger syndactyly, Hypoplasia of the radius, Micr... |
ORPHA:246 |
Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Macroorchidism, Aplasia/Hypoplasia of the corpus callosum, High palate, ... |
ORPHA:776 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Convex nasal ridge, Lower limb undergrowth, Microcephaly, Forearm undergrowth, Craniosynostosis, ... |
OMIM:218650 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Camptodactyly, Pectus excavatum, Broa... |
OMIM:612474 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
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Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Abnormal morp... |
ORPHA:2141 |
Kyphomelic Dysplasia |
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Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... |
ORPHA:1801 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Rhizomelia, Epiphyseal stippling, Short femur, Disproportionate short-limb short stature, Short h... |
OMIM:600121 |
Recombinant Chromosome 8 Syndrome |
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Micrognathia, Camptodactyly, Pectus excavatum, Gingival overgrowth, Postnatal growth retardation,... |
OMIM:179613 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Choanal stenosis, Mandibular prognathia, Thickened ribs, Short stature, Wide nasal bridge, Optic ... |
OMIM:122860 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
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Camptodactyly, Pectus excavatum, Smooth philtrum, Narrow maxilla, Ventricular septal defect, Atri... |
OMIM:617602 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Severe platyspondyly, Short neck, Short ribs, Hypoplastic ischia, Short nose, Dysplastic sacrum, ... |
OMIM:613320 |
Aicardi Syndrome |
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Precocious puberty, Optic atrophy, Butterfly vertebrae, Cleft palate, Optic disc coloboma, Postna... |
OMIM:304050 |
Mosaic Trisomy 14 |
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Camptodactyly of finger, High palate, Ectopic anus, Wide mouth, Wide nasal bridge, Micrognathia, ... |
ORPHA:1703 |
Congenital Disorder Of Glycosylation, Type Iy |
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Wide mouth, Widely spaced teeth, Micrognathia, Clinodactyly, Respiratory distress, Hypospadias, S... |
OMIM:300934 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
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Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, High palate, Death in infancy, Toe... |
OMIM:616809 |
Holt-Oram Syndrome |
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Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog... |
ORPHA:392 |
Pseudo-Torch Syndrome 2 |
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Respiratory insufficiency, Petechiae, Cerebellar hypoplasia, Secundum atrial septal defect, Polym... |
OMIM:617397 |
Endosteal Hyperostosis, Worth Type |
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Mandibular prognathia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized ... |
ORPHA:2790 |
Diamond-Blackfan Anemia 1 |
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Absent thumb, Micrognathia, Hypoplastic sacral vertebrae, Short neck, Cleft palate, Ventricular s... |
OMIM:105650 |
Diaphanospondylodysostosis |
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Respiratory insufficiency, Thoracic hypoplasia, Micrognathia, Narrow pelvis bone, Short neck, Abs... |
OMIM:608022 |
Acromesomelic Dysplasia 2C |
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Short tibia, Short foot, Hypoplasia of the radius, Cuboidal metacarpal, Radial bowing, Hip disloc... |
OMIM:201250 |
Heterotaxy, Visceral, 1, X-Linked |
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Subvalvular aortic stenosis, Atrioventricular canal defect, Cyanosis, Bilateral talipes equinovar... |
OMIM:306955 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
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Flexion contracture, Tapered finger, Wide nasal bridge, Overlapping toe, Short neck, Talipes equi... |
OMIM:617452 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Convex nasal ridge, Short 5th metacarpal, Short stature, Short middle phalanx of the 5th finger, ... |
OMIM:156510 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
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Retrognathia, Hand clenching, High palate, Kyphosis, Micrognathia, Hip dysplasia, Talipes equinov... |
OMIM:611890 |
Dystonia, Juvenile-Onset |
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Cleft upper lip, Femoral retroversion, Kyphoscoliosis, Cleft palate, Hypoplastic scapulae |
OMIM:607371 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Rhizomelia, Short metacarpal, Coxa vara, Platyspondyly, Brachydactyly, Short metatarsal, Deformed... |
OMIM:601438 |
Kniest Dysplasia |
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Dumbbell-shaped long bone, Hip dislocation, Pectus excavatum, Short neck, Cleft palate, Dispropor... |
OMIM:156550 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Wide nasal bridge, Micrognathia, Overlapping toe, Cleft vertebral arch, Cleft palate, Postnatal g... |
ORPHA:83617 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
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Cleft upper lip, Absent thumb, High palate, Hypoplasia of the radius, Micrognathia, Solitary medi... |
OMIM:602418 |
Meier-Gorlin Syndrome 1 |
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Flexion contracture, Coxa valga, Micrognathia, Microdontia, Camptodactyly, Hypoplastic labia majo... |
OMIM:224690 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
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Aplasia/Hypoplasia of the thumb, Radial club hand, Abnormal nostril morphology, Long philtrum, De... |
ORPHA:2878 |
Auriculocondylar Syndrome 2 |
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Dental malocclusion, Mandibular condyle hypoplasia, Temporomandibular joint ankylosis, Micrognath... |
OMIM:614669 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Wide nose, Patent foramen ovale, Wide nasal bridge, Primary microcephaly, 4-layered lissencephaly... |
ORPHA:89844 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Precocious puberty, Micrognathia, Microdontia, Short distal phalanx of toe, Bilateral triphalange... |
OMIM:619356 |
Tetrasomy 5P |
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Cyanosis, Wide nasal bridge, Micrognathia, Redundant neck skin, Pectus excavatum, Overlapping toe... |
ORPHA:3309 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Wide nasal bridge, Delayed eruption of teeth, Large iliac wing, Increased bone mineral density, M... |
ORPHA:2780 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
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Hypoplasia of the radius, Ulnar deviation of finger, Hypoplasia of the ulna, Metatarsus adductus,... |
ORPHA:2249 |
Osteogenesis Imperfecta, Type X |
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Thin bony cortex, Thoracic hypoplasia, Micrognathia, Short femur, Fibular bowing, Dentinogenesis ... |
OMIM:613848 |
Cardioacrofacial Dysplasia 2 |
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Conical tooth, Atrioventricular canal defect, Genu valgum, Mandibular prognathia, Deep philtrum, ... |
OMIM:619143 |
Pierpont Syndrome |
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Primary microcephaly, Everted lower lip vermilion, Short neck, Smooth philtrum, Deep palmar creas... |
ORPHA:487825 |
Codas Syndrome |
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Ventricular septal defect, Short stature, Delayed eruption of teeth, Short metacarpal, Abnormalit... |
ORPHA:1458 |
Mietens Syndrome |
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Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Wide nasal... |
ORPHA:2557 |
Atelosteogenesis Type Ii |
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Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... |
ORPHA:56304 |
Loeys-Dietz Syndrome 5 |
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Cleft soft palate, Reduced subcutaneous adipose tissue, Bifid uvula, Pectus excavatum, Smooth phi... |
OMIM:615582 |
Distal Trisomy 18Q |
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Camptodactyly of finger, Arachnodactyly, Abnormality of female external genitalia, High palate, P... |
ORPHA:1716 |
Mesomelic Limb Shortening And Bowing |
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Camptodactyly of finger, Retrognathia, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... |
OMIM:249710 |
Warburg Micro Syndrome 1 |
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Perisylvian polymicrogyria, Short stature, Wide nasal bridge, External genital hypoplasia, Microg... |
OMIM:600118 |
Acrofacial Dysostosis 1, Nager Type |
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Absent thumb, Hallux valgus, Toe syndactyly, Micrognathia, Hip dislocation, Overlapping toe, Broa... |
OMIM:154400 |
Cornelia De Lange Syndrome 2 |
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High palate, Limited elbow movement, Short stature, Small hand, Micrognathia, Clinodactyly, Cutis... |
OMIM:300590 |
Ulnar-Mammary Syndrome |
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Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Stiff elbow, Imperforate... |
OMIM:181450 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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Abnormality of the elbow, Deep philtrum, Short stature, Thick lower lip vermilion, Brachydactyly,... |
ORPHA:2701 |
Kbg Syndrome |
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Cervical ribs, Radial deviation of finger, Short neck, Ulnar deviation of the 2nd finger, Short p... |
OMIM:148050 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Hypoplastic iliac wing, Rhizomelia, Wide mouth, Short stature, Short foot, Micrognathia, Abnormal... |
ORPHA:163966 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
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Increased intervertebral space, Short long bone, Short ribs, Coarse metaphyseal trabecularization... |
OMIM:618961 |
Craniodiaphyseal Dysplasia |
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Wide nasal bridge, Short stature, Optic atrophy, Macrocephaly, Craniofacial hyperostosis, Depress... |
ORPHA:1513 |
Charge Syndrome |
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Micrognathia, Secundum atrial septal defect, Abnormal rib morphology, Cleft palate, Bilateral tal... |
OMIM:214800 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Respiratory insufficiency, Multiple joint contractures, Hallux valgus, Micrognathia, Microdontia,... |
ORPHA:536467 |
Steinfeld Syndrome |
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Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Bifid uvula, Miss... |
OMIM:184705 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
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Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Broad hallux, Complete at... |
OMIM:217085 |
Insulin-Like Growth Factor I, Resistance To |
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Wide nasal bridge, Micrognathia, Reduced subcutaneous adipose tissue, Pectus excavatum, Radial de... |
OMIM:270450 |
Mmep Syndrome |
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Triphalangeal thumb, Mandibular prognathia, Ventricular septal defect, Median cleft lip, Split fo... |
ORPHA:3434 |
Acromesomelic Dysplasia, Maroteaux Type |
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Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Depressed nasal bridg... |
ORPHA:40 |
Arthrogryposis, Distal, Type 3 |
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Camptodactyly of finger, Short phalanx of finger, Ulnar deviation of the hand or of fingers of th... |
OMIM:114300 |
Distal Monosomy 1Q |
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Aplasia/Hypoplasia of the corpus callosum, Short stature, Micrognathia, Depressed nasal bridge, M... |
ORPHA:36367 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Primary microcephaly, Micrognathia, Pectus excavatum, Dorsocervical fat pad, Short neck, Slender ... |
ORPHA:391408 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Rhizomelic arm shortening, Short metacarpal, Short stature, Delayed eruption of teeth, Abnormal t... |
ORPHA:508542 |
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
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Pierre-Robin sequence, Short stature, Micrognathia, Adducted thumb, Downturned corners of mouth, ... |
ORPHA:1150 |
Roberts-Sc Phocomelia Syndrome |
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Wrist flexion contracture, Absent thumb, Wide nasal bridge, Micrognathia, Elbow flexion contractu... |
OMIM:268300 |
Ruvalcaba Syndrome |
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Convex nasal ridge, Synostosis of carpal bones, Short nose, Delayed puberty, Narrow mouth, Proxim... |
ORPHA:3121 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
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Retrognathia, Ventricular septal defect, Bifid uvula, Cutis marmorata, Lissencephaly, Brachydacty... |
OMIM:612938 |
14Q24.1Q24.3 Microdeletion Syndrome |
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Long philtrum, Wide nasal bridge, Truncus arteriosus, Ventricular septal defect, Joint laxity, At... |
ORPHA:401935 |
Orofaciodigital Syndrome Type 5 |
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Non-midline cleft lip, Bifid tongue, Cleft soft palate, Bifid uvula, Abnormal oral frenulum morph... |
ORPHA:2919 |
Congenital Disorder Of Glycosylation, Type Ie |
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Knee flexion contracture, Upper limb undergrowth, Telangiectasia, Small hand, Optic atrophy, Micr... |
OMIM:608799 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Gonadoblastoma, Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac dis... |
ORPHA:99413 |
Mosaic Monosomy X |
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Gonadoblastoma, Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac dis... |
ORPHA:99228 |
Monosomy X |
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Gonadoblastoma, Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac dis... |
ORPHA:99226 |
Turner Syndrome |
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Gonadoblastoma, Enlarged thorax, Short 4th metacarpal, Micrognathia, Pectus excavatum, Celiac dis... |
ORPHA:881 |
Achondroplasia |
|
Thoracic hypoplasia, Severe platyspondyly, Spinal stenosis with reduced interpedicular distance, ... |
OMIM:100800 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Pectus carinatum, Long philtrum, Toe syndactyly, Micrognathia, Radioulnar synostosis, Abnormal se... |
ORPHA:171839 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Thoracic hypoplasia, Short long bone, Camptodactyly, Respiratory... |
OMIM:619751 |
Bone Dysplasia, Lethal Holmgren Type |
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Respiratory insufficiency, Redundant neck skin, Hypertrophic cardiomyopathy, Short neck, Short ri... |
ORPHA:1842 |
2Q32Q33 Microdeletion Syndrome |
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Convex nasal ridge, Micrognathia, Cleft palate, Talipes equinovarus, Narrow mouth, Microcephaly, ... |
ORPHA:251019 |
Aica-Ribosuria Due To Atic Deficiency |
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Wide mouth, Optic atrophy, Secundum atrial septal defect, Thin upper lip vermilion, Anteverted na... |
OMIM:608688 |
Verheij Syndrome |
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Vertebral fusion, Short 5th finger, Long philtrum, Short stature, Wide nasal bridge, Abnormal car... |
OMIM:615583 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Pulmonic stenosis, Missin... |
OMIM:220210 |
Pallister-Hall Syndrome |
|
Respiratory insufficiency, Atrioventricular canal defect, Ambiguous genitalia, Precocious puberty... |
ORPHA:672 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Hallux valgus, Micro... |
ORPHA:536471 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Respiratory failure, Wide nasal br... |
ORPHA:2759 |
Nicolaides-Baraitser Syndrome |
|
Abnormal testis morphology, Everted lower lip vermilion, Smooth philtrum, Short palm, Thick nasal... |
ORPHA:3051 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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Precocious puberty, Coxa valga, Wide nasal bridge, Micrognathia, Broad hallux, Short neck, Short ... |
OMIM:620073 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
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Bifid uvula, Short neck, Smooth philtrum, Arthrogryposis multiplex congenita, Rocker bottom foot,... |
OMIM:618622 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Flexion contracture, Hypogonadism, Death in infancy, Micrognathia, Microcephaly, Cerebral atrophy... |
OMIM:608540 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Microg... |
ORPHA:1143 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Ambiguous genitalia, High palate, Ventricular septal defect, Hypoplastic right hear... |
OMIM:618142 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal atresia, Short st... |
OMIM:610536 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Hypoplastic acetabulae, Hypoplastic ilia, Short stature, Clinodactyly of the 5th finge... |
OMIM:169550 |
Autosomal Recessive Omodysplasia |
|
Rhizomelia, Long philtrum, Short stature, Micrognathia, Abnormal morphology of the radius, Microm... |
ORPHA:93329 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Restrictive ventilatory defect, Rib fusion, Sh... |
OMIM:608681 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Long philtrum, Short stature, Optic dis... |
OMIM:300887 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Wide nasal bridge, Pectus excavatum, Radial deviation of finger, Short neck, Cu... |
OMIM:305400 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate, Short humerus |
OMIM:191000 |
Ruvalcaba Syndrome |
|
Short phalanx of finger, Short metatarsal, Underdeveloped nasal alae, Short foot, Short stature, ... |
OMIM:180870 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Global brain atrophy, Absent thumb, Ischemic stroke, Wide nasal bridge, Optic atrophy, Bifid uvul... |
ORPHA:500150 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Cerebral cortical atrophy, Short 5th finger, Abnormality of the anus, Wi... |
OMIM:607872 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Pectus excavatum, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Pate... |
OMIM:618316 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Short stature, Micrognathia, Microdontia, Vertebral segmentation defect, B... |
ORPHA:1915 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro... |
ORPHA:66637 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate, Micrognathia, Abnormality of the wrist, Irregular acetabular roof, Abnormal me... |
ORPHA:93316 |
Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short stat... |
OMIM:614326 |
Peho-Like Syndrome |
|
Retrognathia, Tapered finger, Optic atrophy, Lissencephaly, Short nose, Progressive microcephaly,... |
OMIM:617507 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Retrognathia, Decreased palmar creases, Joint contracture of the hand, Short stature, Wide nasal ... |
ORPHA:352490 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
Achondroplasia |
|
Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,... |
ORPHA:15 |
Achondrogenesis |
|
Short thorax, Long philtrum, Abnormal enchondral ossification, Narrow chest, Micrognathia, Macroc... |
ORPHA:932 |
Myhre Syndrome |
|
Precocious puberty, Abnormal cardiac septum morphology, Large iliac wing, Abnormal lip morphology... |
ORPHA:2588 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Short stature, Wide nasal bridge, Death in infancy, Micrognathia, Atrial septal defect, Narrow mo... |
ORPHA:93946 |
Spondyloepiphyseal Dysplasia Congenita |
|
Delayed calcaneal ossification, Bifid uvula, Hip dislocation, Short neck, Flattened epiphysis, Ov... |
OMIM:183900 |
Stickler Syndrome Type 1 |
|
Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla, Joint hyperflexibili... |
ORPHA:90653 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Micrognathia, Short nec... |
ORPHA:2516 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Micrognathia, Prominent nasal tip, Caudal interpedicular narrowing, Broa... |
ORPHA:439822 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Respiratory insufficiency, Micrognathia, Elbow flexion cont... |
OMIM:601559 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Advanced ossification of carpal bones, Coxa valga, Thoracic hypoplasia, Micrognathia, Tooth agene... |
OMIM:618363 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Cutaneous photosensitivity, Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge... |
ORPHA:2180 |
Radio-Renal Syndrome |
|
Retrognathia, Convex nasal ridge, Respiratory failure, Abnormality of the elbow, Hypoplasia of th... |
ORPHA:3015 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Cleft palate, ... |
ORPHA:2712 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Coxa valga, Abnormal ... |
ORPHA:2484 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect, Widely spaced teeth, Microdontia, Premature loss of primary teeth,... |
OMIM:617364 |
Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene... |
OMIM:311300 |
3P25.3 Microdeletion Syndrome |
|
Tapered finger, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, Cleft palate,... |
ORPHA:435638 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Flexion contracture, Thoracic hypoplasia, Long philtrum, Wide nasal bridge, Widely spaced teeth, ... |
OMIM:619479 |
Zechi-Ceide Syndrome |
|
Wide nose, Short metatarsal, Mandibular prognathia, Wide nasal bridge, Oligodontia, Short philtru... |
ORPHA:217017 |
Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Wide nasal bridge, Abnormal cardiac septum morpholog... |
OMIM:200990 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Short stature, Kyphosis, Increased bone mineral density, Relative macrocepha... |
OMIM:239000 |
Pycnodysostosis |
|
Convex nasal ridge, Increased bone mineral density, Micrognathia, Hypoplastic iliac wing, Increas... |
ORPHA:763 |
Shox-Related Short Stature |
|
Genu valgum, High palate, Short stature, Micrognathia, Lower limb undergrowth, Cubitus valgus, Ul... |
ORPHA:314795 |
16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Short 5th finger, Long philtrum, Wide mouth, Tapered finger, Ha... |
ORPHA:485405 |
Chung-Jansen Syndrome |
|
High palate, Long philtrum, Tapered finger, Micrognathia, Hip dysplasia, Short philtrum, Clinodac... |
OMIM:617991 |
Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Micrognathia, Bifid uvula, Limb undergrowth, Short neck, Fibular bowing,... |
ORPHA:1427 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Abnormal periventricular white matter morphology, Contractures of the large ... |
ORPHA:329178 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Cerebral cortical atrophy, Tapered finger, Toe syndactyly, Overlapping toe, Short neck, Talipes e... |
ORPHA:505237 |
Schwartz-Jampel Syndrome, Type 1 |
|
Wrist flexion contracture, Coxa valga, Micrognathia, Short neck, Flexion contracture of toe, Abno... |
OMIM:255800 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Optic atrophy, Flattened femoral head, Mild postnatal growth retardation, Ap... |
ORPHA:168549 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Micrognathia, Reduced subcutaneous adipose... |
OMIM:613026 |
Roifman Syndrome |
|
Postnatal growth retardation, Short toe, Irregular vertebral endplates, Ventricular septal defect... |
OMIM:616651 |
Ellis-Van Creveld Syndrome |
|
Horizontal ribs, Delayed eruption of teeth, Postaxial hand polydactyly, Talipes equinovarus, Hypo... |
OMIM:225500 |
Acrocapitofemoral Dysplasia |
|
Genu varum, Hyperlordosis, Short thorax, Coxa vara, Short stature, Flared iliac wing, Macrocephal... |
ORPHA:63446 |
Restrictive Dermopathy 2 |
|
Overtubulated long bones, Cyanosis, Convex nasal ridge, Hypoplastic facial bones, Respiratory dis... |
OMIM:619793 |
Neurofibromatosis-Noonan Syndrome |
|
Short stature, Pectus excavatum of inferior sternum, Secundum atrial septal defect, Prominent nas... |
OMIM:601321 |
Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, 2-3 toe syndactyly, Cleft upper lip, Mandibular prognathia, Bilateral ... |
OMIM:608572 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
High palate, Long philtrum, Kyphosis, Micrognathia, Short nose, Delayed puberty, Scoliosis, Micro... |
ORPHA:2598 |
Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Finger joint hypermobility, Hyperintensity of cerebral white matter on M... |
ORPHA:363705 |
Non-Distal Trisomy 13Q |
|
Arachnodactyly, High palate, Long philtrum, Narrow chest, Micrognathia, Short nose, Everted lower... |
ORPHA:1702 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Hyperlordosis, Pierre-Robin sequence, Small hand, Wide nasal bridge, Ventricul... |
OMIM:619980 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ambiguous genitalia, Recurrent fractures, Ventricular septa... |
ORPHA:2772 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Ectopic anus, Abnormal cranial nerve morphology, Anal atresia, Abnorma... |
ORPHA:2345 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Short neck, Hypoplasia of pr... |
ORPHA:2756 |
Carpenter Syndrome 1 |
|
Precocious puberty, Coxa valga, Optic atrophy, Toe syndactyly, Micrognathia, Flared iliac wing, C... |
OMIM:201000 |
Feingold Syndrome Type 2 |
|
Jejunal atresia, Short stature, Ventricular septal defect, Toe syndactyly, Microcephaly, Brachyda... |
ORPHA:391646 |
Renpenning Syndrome |
|
Pectus excavatum, Broad columella, Abnormal rib morphology, Cleft palate, Prominent nose, Narrow ... |
ORPHA:3242 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Vertebral hypoplasia, Short stature, Esophageal atresia, Ventricular septal def... |
OMIM:206900 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Convex nasal ridge, Optic atrophy, Reduced subcutane... |
ORPHA:3455 |
20P12.3 Microdeletion Syndrome |
|
Long philtrum, Short stature, Wide nasal bridge, Macrocephaly, Atrial septal defect, Hypoplasia o... |
ORPHA:261295 |
Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Convex nasal ridge, Micrognathia, Cleft palate, Choanal atresia, T... |
ORPHA:2409 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy, Jaundice, Epiphyseal stippling, Glossoptosis |
OMIM:614876 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Increas... |
ORPHA:90652 |
19P13.3 Microduplication Syndrome |
|
Hip subluxation, Precocious puberty, Micrognathia, Hip dislocation, Unilateral cryptorchidism, Cl... |
ORPHA:447980 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Pierre-Robin sequence, Short stature, Wide nasal bridge, Micrognathia, Clinodactyly,... |
OMIM:613604 |
Coffin-Siris Syndrome 6 |
|
Retrognathia, Deep philtrum, Short stature, Micrognathia, Periventricular leukomalacia, Clinodact... |
OMIM:617808 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Retrognathia, Wide mouth, Optic atrophy, Micrognathia, Abnormal lip morphology, Microdontia, Shor... |
ORPHA:2707 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Optic atrophy, Micrognathia, Microdontia, Abnormal optic disc morphology, Tibial deviation of the... |
ORPHA:363417 |
Arthrogryposis, Distal, Type 2A |
|
Wrist flexion contracture, Ulnar deviation of the hand or of fingers of the hand, Wide nasal brid... |
OMIM:193700 |
Poland Syndrome |
|
Spina bifida occulta, Short neck, Abnormal rib morphology, Absent hand, Reduced bone mineral dens... |
ORPHA:2911 |
Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Short hallux, Optic disc coloboma, Postnatal g... |
ORPHA:959 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
Even-Plus Syndrome |
|
Vertebral clefting, Patent foramen ovale, High palate, Depressed nasal ridge, Hypodontia, Agenesi... |
OMIM:616854 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Short stature, Depress... |
OMIM:300863 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Arrhinencephaly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic gir... |
ORPHA:1788 |
Fanconi Anemia, Complementation Group I |
|
Patent foramen ovale, Absent thumb, Ventricular septal defect, Short 1st metacarpal, Short statur... |
OMIM:609053 |
Mucopolysaccharidosis Type 4 |
|
Coxa valga, Grayish enamel, Short neck, Abnormal rib morphology, Abnormal metaphysis morphology, ... |
ORPHA:582 |
Stickler Syndrome, Type I |
|
Micrognathia, Bifid uvula, Pectus excavatum, Beaking of vertebral bodies, Cleft palate, Abnormal ... |
OMIM:108300 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Micrognathia, Dilated cardiomyopathy, Respiratory distress, Frontalis muscle weakn... |
OMIM:300580 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Bell-shaped thorax, Coxa valga, Small hand, Coxa vara, Ventricular septa... |
ORPHA:1425 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Short neck... |
OMIM:616894 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hyperlordosis, High palate, Depressed nasal ridge, Micrognathia, Joint laxity, Pallor, Delayed pu... |
OMIM:600462 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Knee flexion contracture, Respiratory insufficiency, Abnormal periventricular white matter morpho... |
ORPHA:1145 |
Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, C... |
OMIM:253000 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Wide nasal bridge, Micrognathia, Bifid uvula, Contracture of the proximal interphalangeal joint o... |
ORPHA:2872 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
Thanatophoric Dysplasia |
|
Respiratory insufficiency, Short thorax, Kyphosis, Narrow chest, Hip dysplasia, Macrocephaly, Atr... |
ORPHA:2655 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Delayed eruption of teeth, Microdontia, Abnormal oral frenulum mor... |
ORPHA:289 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Thick lower lip vermilion, Micrognathia, Short philtrum... |
OMIM:608227 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Retrognathia, Sacral dimple, Periventricular cysts, Tapered finger, Tapered toe, Hyperintensity o... |
ORPHA:544488 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, Unilateral cryptorchidism, 2-3 toe cutane... |
OMIM:206920 |
Mesomelia-Synostoses Syndrome |
|
Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral ... |
ORPHA:2496 |
Filippi Syndrome |
|
Wide nasal bridge, Optic atrophy, Clinodactyly of the 5th toe, Broad columella, Ventricular septa... |
ORPHA:3255 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Mandibular aplasia, Micrognathia, Bifid uvula, Hypoplastic labia majora,... |
ORPHA:2554 |
Dysostosis, Stanescu Type |
|
Convex nasal ridge, Increased bone mineral density, Pectus excavatum, Short neck, Tooth agenesis,... |
ORPHA:1798 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Wide nasal bridge, Camptodactyly, Short neck, Patent foramen ovale, Ventricular septal defect, Ma... |
ORPHA:369891 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Coxa valga, Pectus excavatum, Everted lower lip vermilion, Short neck, Gingival overgrowth, Postn... |
OMIM:212066 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Periventricular leukomalacia, Microcephaly, Cardiomegal... |
OMIM:619170 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Ventricular septal defect, Joint c... |
OMIM:113000 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Bifid uvula, Cleft palate, Abnormal metaphysis morphology, Crania... |
ORPHA:2658 |
Short Stature-Micrognathia Syndrome |
|
2-3 toe syndactyly, Coxa valga, Micrognathia, Cleft palate, Ventricular septal defect, Bowing of ... |
OMIM:617164 |
Hall-Riggs Syndrome |
|
Prominent nose, Wide mouth, Delayed eruption of teeth, Short stature, Wide nasal bridge, Platyspo... |
ORPHA:2107 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Flexion contracture, Micrognathia, Pectus excavatum, Ventricular septal defect, Hyperextensibilit... |
OMIM:309520 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Cohen Syndrome |
|
Tapered finger, Optic atrophy, Micrognathia, Pectus excavatum, Tooth agenesis, Gingival overgrowt... |
ORPHA:193 |
Kagami-Ogata Syndrome |
|
Retrognathia, Bell-shaped thorax, Pulmonary arterial hypertension, Flexion contracture, Coxa valg... |
OMIM:608149 |
Three M Syndrome 2 |
|
Short 5th finger, Delayed eruption of teeth, Prominent nasal tip, Short neck, Scapular winging, L... |
OMIM:612921 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Non-midline cleft lip, Optic atrophy, Toe syndactyly, Micrognathia, Taur... |
ORPHA:2710 |
Distal Monosomy 10Q |
|
Tapered finger, Wide nasal bridge, Micrognathia, Hip dislocation, Pectus excavatum, Facial dipleg... |
ORPHA:96148 |
Dysosteosclerosis |
|
Irregular vertebral endplates, Recurrent fractures, Short stature, Delayed eruption of teeth, Ven... |
ORPHA:1782 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Broad hallux, Complete atrioventricular canal ... |
OMIM:217095 |
Coffin-Siris Syndrome 5 |
|
Wide nose, Wide mouth, Short stature, Thick lower lip vermilion, Cerebellar hypoplasia, Short phi... |
OMIM:616938 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Peg-like central promine... |
OMIM:300232 |
Suleiman-El-Hattab Syndrome |
|
Polydactyly, Patent foramen ovale, High palate, Long philtrum, Wide mouth, Wide nasal bridge, Thi... |
OMIM:618950 |
Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Short stature, Clinodactyly of the 5th finger, Dilated cardiomyopathy,... |
ORPHA:2515 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly, Thin ve... |
ORPHA:3303 |
Emanuel Syndrome |
|
Multiple joint contractures, Ectopic anus, Delayed eruption of teeth, Truncus arteriosus, Microgn... |
ORPHA:96170 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Posterior rib fusion, Butterfl... |
OMIM:122600 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Smooth philtrum, Respiratory distress, Atrial septal defect, Dysplastic tricuspid valve, Right ve... |
OMIM:612863 |
Oculoauriculofrontonasal Syndrome |
|
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Micrognathia, Macrocephaly, Narr... |
ORPHA:398156 |
Kaufman Oculocerebrofacial Syndrome |
|
Micrognathia, Hypoplastic labia majora, Metatarsus adductus, Ovoid vertebral bodies, Smooth philt... |
OMIM:244450 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Tapered finger, Toe syndactyly, Micrognathia,... |
ORPHA:251014 |
Grant Syndrome |
|
Short stature, Narrow chest, Micrognathia, Abnormal cortical bone morphology, Abnormal pelvic gir... |
ORPHA:2097 |
Prader-Willi Syndrome Due To Translocation |
|
Cerebral cortical atrophy, Micrognathia, Bifid uvula, Everted lower lip vermilion, Overlapping to... |
ORPHA:177907 |
Cartilage-Hair Hypoplasia |
|
Respiratory insufficiency, Convex nasal ridge, Wide nasal bridge, Abnormal cardiac septum morphol... |
ORPHA:175 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Horizontal ribs, Respiratory insufficiency, Thoracic dysplasia, Early os... |
OMIM:208500 |
Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
Chromosome 10Q26 Deletion Syndrome |
|
Convex nasal ridge, Wide nasal bridge, Toe syndactyly, Micrognathia, Pectus excavatum, 2-3 toe cu... |
OMIM:609625 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Ambiguous genitalia, Depressed nasal ridge, Pericardial effusion, S... |
OMIM:613885 |
Kbg Syndrome |
|
Cervical ribs, Short neck, Cleft palate, Cutaneous syndactyly, Vertebral fusion, Microcephaly, Cr... |
ORPHA:2332 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Abnormally ossified vertebrae, Micrognathia, Abnormal pel... |
ORPHA:1426 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Depressed nasal ridge, Short long bone, Epiphyseal stippling, ... |
OMIM:118651 |
Teebi Hypertelorism Syndrome 1 |
|
Sagittal craniosynostosis, Long philtrum, Natal tooth, Short stature, Coronal craniosynostosis, M... |
OMIM:145420 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Depressed nasal bridge, ... |
ORPHA:1918 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormality of the philtrum, Ambiguous genitalia, Microretrognathia, Hypospadias, Abnormal clavic... |
ORPHA:276422 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Patent foramen ovale, Short 5th finger, Long philtrum, Hyperextensibility of the finger joints, R... |
OMIM:618821 |
Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micr... |
OMIM:215140 |
Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, 2-3 toe syndactyly, Short 5th finger, Tapered finger, Wide nasal bridge,... |
OMIM:605130 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Prominent nose, Long philtrum, Short stature, Wide nasal bridge, Abnormal cardiac se... |
OMIM:301022 |
Clark-Baraitser Syndrome |
|
High palate, Long philtrum, Wide mouth, Clinodactyly, Short philtrum, Short nose, Thin upper lip ... |
OMIM:617752 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short stature, Death in infancy, External genital hypoplasia, Hypoplasia of the rad... |
OMIM:613390 |
Acrofacial Dysostosis, Catania Type |
|
Pectus excavatum, Spina bifida occulta, Tooth agenesis, Smooth philtrum, Short palm, Short nose, ... |
ORPHA:1786 |
Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... |
OMIM:155050 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Flexion contracture, Coxa valga, Delayed eruption of teeth, Micrognathia, Elbow flexion contractu... |
OMIM:214150 |
Noonan Syndrome 13 |
|
Enlarged thorax, Tapered finger, Wide nasal bridge, Micrognathia, Microdontia, Metatarsus adductu... |
OMIM:619087 |
Bohring-Opitz Syndrome |
|
Flexion contracture, Tapered finger, Wide nasal bridge, Micrognathia, Camptodactyly, Overlapping ... |
OMIM:605039 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner... |
ORPHA:94066 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Clinodactyly of the ... |
OMIM:619736 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Narrow chest, Micrognathia, Generalized osteos... |
OMIM:215045 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short 5th finger, Primary microcephaly, Toe syndactyly, Micrognathia, Microdontia, Short neck, Sm... |
OMIM:610759 |
Marshall Syndrome |
|
Thick upper lip vermilion, Coxa valga, Micrognathia, Bifid uvula, Irregular distal femoral epiphy... |
OMIM:154780 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Wide nasal bridge, Fusion of middle ear ossicles, Patent foramen ovale, Ventricu... |
OMIM:157800 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Abnormal mandible morphology, Short 4th metacarpal, Tapered f... |
ORPHA:3201 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Ectopic anus, Abnormality of the wrist, Postaxial hand polydactyly, Abse... |
ORPHA:3138 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Widely spaced teeth, Clinoda... |
OMIM:619717 |
Osseous Heteroplasia, Progressive |
|
Ectopic ossification in muscle tissue, Limb undergrowth, Ankylosis |
OMIM:166350 |
Perlman Syndrome |
|
Retrognathia, Wide nasal bridge, Micrognathia, Broad alveolar ridges, Macrocephaly, Hypoplasia of... |
ORPHA:2849 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Agenesis of corpus ... |
OMIM:618577 |
Recombinant 8 Syndrome |
|
Camptodactyly of finger, Abnormality of the anus, Micrognathia, Abnormal oral frenulum morphology... |
ORPHA:96167 |
Desmosterolosis |
|
Ambiguous genitalia, Increased bone mineral density, Micrognathia, Bifid uvula, Lissencephaly, Me... |
ORPHA:35107 |
Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Agenesis of cerebellar vermis, Ventricular septal defect, Arrhine... |
OMIM:614815 |
Abruzzo-Erickson Syndrome |
|
Short toe, Short stature, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Atria... |
ORPHA:921 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Everted lower lip vermilion, Subm... |
OMIM:608670 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Tapered finger, Wide nasal bridge, Bifid uvula, Hip dislocation, Smooth philtrum, Cleft palate, C... |
OMIM:300968 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, Arachnodactyly, High palate, Convex nasal ridge, Short stature, Atrial septal defect... |
ORPHA:1035 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short toe, Short phalanx of finger, Short femo... |
OMIM:609441 |
Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the cerebellum, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Man... |
ORPHA:1908 |
Xq27.3Q28 Duplication Syndrome |
|
Small hand, Hypogonadism, Short stature, Decreased testicular size, Cryptorchidism, Thin vermilio... |
ORPHA:261483 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Ambiguous genitalia, Atrioventricular canal defect, Bifid tongue, Wide nasal ... |
ORPHA:818 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Knee flexion contracture, Cyanotic episode, Primary microcephaly, Simplified gyral pattern, Micro... |
ORPHA:284417 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Abnormality of th... |
ORPHA:3186 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
2-3 toe syndactyly, Reduced subcutaneous adipose tissue, Metatarsus adductus, Everted lower lip v... |
ORPHA:3041 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Encephalomalacia, Optic atrophy, Limb undergrowth, Abnormal metaphysis m... |
ORPHA:354 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Cleft upper lip, Mandibular prognathia, Tapered finger, Cerebral cortical atrophy, Wid... |
OMIM:239300 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, High palate, Sudden episodic apnea, Neuropathic spinal a... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, High palate, Sudden episodic apnea, Neuropathic spinal a... |
ORPHA:590 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Flat capital femoral epiphysis, Metaphyseal striations, Lumbar interpedicular narrowing, Limited ... |
OMIM:271510 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Weakness of long finger extensor muscles, High palate, Exertional dyspnea, Triceps weak... |
ORPHA:98913 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Sacral dimple, Shawl scrotum, Limitation of joint mobility, Atrial septal defect, Narrow mouth, M... |
ORPHA:261279 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Micrognathia, Biparietal narrowing, Hip dislocation, Elbow dislocation, ... |
ORPHA:99776 |
Atelosteogenesis Type Iii |
|
Short tibia, Respiratory insufficiency, Thoracic hypoplasia, Vertebral hypoplasia, Short tubular ... |
ORPHA:56305 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Deep philtrum, Short stature, Wide nasal bridge, Inferior cerebellar vermis hypopl... |
OMIM:618571 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Triphalangeal thumb, Contractures of the large joints, Ventricular septal defect, Optic atrophy, ... |
ORPHA:3078 |
Al Kaissi Syndrome |
|
Sacral dimple, Decreased head circumference, Long philtrum, Short stature, Small hand, Wide nasal... |
OMIM:617694 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Micrognathia, Elbow flexion contracture, M... |
OMIM:245600 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Atrioventricular canal defect, Bifid tongue, Wide nasal brid... |
ORPHA:2751 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Short metacarpal, Abnormal metap... |
ORPHA:93351 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Short stature, Optic atrophy, Prominent nasal bridge, Microretrognathi... |
ORPHA:457193 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Genu valgum, Hyperlordosis, Short ribs, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
Baraitser-Winter Syndrome 1 |
|
Wide nasal bridge, Lissencephaly, Duplication of phalanx of hallux, Short neck, Postnatal growth ... |
OMIM:243310 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Tapered finger, Cerebral cortical atrophy, Micrognathia, Hip dislocation, De... |
OMIM:616007 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Abnormality of the anus, Wide nasal bridge, A... |
ORPHA:1606 |
Myotubular Myopathy With Abnormal Genital Development |
|
Retrognathia, Penile hypospadias, High palate, Bifid scrotum, Death in infancy, Bilateral cryptor... |
OMIM:300219 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Camptodactyly of finger, Short phalanx of finger, Tapered finger, Delayed eruption of teeth, Bifi... |
OMIM:612350 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Micrognathia, Distal shortening of limbs, Short thorax, Short rib... |
ORPHA:50945 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Everted lower lip vermilion, Furrowed tongue, Cleft palate, Ventricular septa... |
OMIM:616449 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Wide nasal bridge, Micrognathia, Bifid uvula, Abnormal oral frenulum morpholo... |
ORPHA:404440 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Ambiguous genitalia, Depressed nasal ridge, Joint contracture of the hand, Campt... |
OMIM:601016 |
Intellectual Disability-Strabismus Syndrome |
|
Micrognathia, Short neck, Talipes equinovarus, Rocker bottom foot, Prominent nose, Limitation of ... |
ORPHA:363528 |
Trisomy 13 |
|
Optic atrophy, Median cleft lip, Abnormal rib morphology, Postaxial hand polydactyly, Ectrodactyl... |
ORPHA:3378 |
Raine Syndrome |
|
Thoracic hypoplasia, Increased bone mineral density, Micrognathia, Microdontia, Pectus excavatum,... |
OMIM:259775 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Selective tooth agenesis, Microdo... |
ORPHA:2909 |
46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Ambiguous genitalia, Ventricular septal defect, Secundum atrial septal ... |
OMIM:618901 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Retrognathia, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicles, Bilat... |
OMIM:618022 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Tapered finger, Pneumothorax, Subcutaneous hemorrhage, Atlantoaxial dislocation, Prominent nasola... |
ORPHA:2953 |
Vitamin K Antagonist Embryofetopathy |
|
Respiratory insufficiency, Optic atrophy, Epiphyseal stippling, Macroglossia, Short nose, Depress... |
ORPHA:1914 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Choanal atresia, Sacra... |
ORPHA:93932 |
Kabuki Syndrome 2 |
|
Atrioventricular canal defect, Short 5th finger, Micrognathia, Hip dislocation, Depressed nasal t... |
OMIM:300867 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Hypoplasia of the frontal lobes, Micrognathia, Microdontia, Everted lower lip vermilion, Short pa... |
OMIM:156200 |
Carey-Fineman-Ziter Syndrome |
|
Micrognathia, Cleft palate, Glossoptosis, Talipes equinovarus, Facial palsy, Aplasia/Hypoplasia o... |
ORPHA:1358 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Respiratory insufficiency, Ventricular septal defect, Short stature, Mis... |
ORPHA:1488 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Short metatarsal, Mandibular prognathia, Advanced ossification of carpal... |
OMIM:614613 |
Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Gonadal tissue inappropriate for external genitalia or chromosomal sex, ... |
ORPHA:261519 |
Sponastrime Dysplasia |
|
Hip subluxation, Precocious puberty, Aplasia of the nasal bone, Microdontia, Flat capital femoral... |
ORPHA:93357 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Metatarsus valgus, Mandibular prognathia, Short stature, Kyphosis, Toe syndactyly, Micrognathia, ... |
ORPHA:3082 |
Diamond-Blackfan Anemia 6 |
|
Retrognathia, Triphalangeal thumb, Cleft upper lip, Ventricular hypertrophy, Ventricular septal d... |
OMIM:612561 |
Tbck-Related Intellectual Disability Syndrome |
|
Respiratory insufficiency, 2-3 toe syndactyly, Global brain atrophy, Wide nasal bridge, Pectus ex... |
ORPHA:488632 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Narrow chest, Ab... |
ORPHA:1263 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short 5th finger, Wide nasal bridge, Optic atrophy, Everted lower lip vermilion, Cleft palate, Gi... |
OMIM:220500 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Cleft palate, Polymicrogyria, Patent foramen ovale, Overhanging nasal tip, Ventr... |
OMIM:618494 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Hallux valgus, Premature graying of hair, Elbow fle... |
OMIM:256040 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Short neck, Cleft palate, Deep palmar crease, Short palm, Arthrogryposis mult... |
ORPHA:254346 |
Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Cyanosis, Intercostal retractions, Wheezing, Crackles, Recurr... |
ORPHA:1329 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Lack of skin elasticity, Abnormal nostril morphology, Long philtrum, Hyp... |
ORPHA:178303 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Flexion contracture, Restrictive cardiomyopathy, Short thorax, Short statur... |
ORPHA:88630 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, High palate, Short stature, Wide nasal bridge, Hip dislocation, Atrial septal defec... |
OMIM:618005 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Flexion contracture, High palate, Tapered finger, Wide nasal bridge, Decrease... |
OMIM:218000 |
Hypochondroplasia |
|
Short toe, Genu varum, Hyperlordosis, Abnormality of the elbow, Macrocephaly, Spinal canal stenos... |
ORPHA:429 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Pulmonary arterial hypertension, Flexion contracture, Mandibular prognathia, Clinod... |
ORPHA:391372 |
Cardiofaciocutaneous Syndrome |
|
Cerebral cortical atrophy, Optic atrophy, Biparietal narrowing, Pectus excavatum, Hypertrophic ca... |
ORPHA:1340 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Severe platyspondyly, Micrognathia, Elbow flexion contracture, Abnormal ... |
ORPHA:508533 |
Nager Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Respiratory insuffic... |
ORPHA:245 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Bowing of the long bones, Optic nerve compression, Recurrent fra... |
ORPHA:667 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Hypoventilation, High palate, Aspiration pneumonia, Deep philtrum, Micrognathia, Res... |
ORPHA:314655 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Respiratory insufficiency, Thoracic hypoplasia, Wide nasal bridge, Short long bone, Micrognathia,... |
OMIM:224410 |
Chromosome 18Q Deletion Syndrome |
|
Optic atrophy, Toe syndactyly, Bifid uvula, Overlapping toe, Short neck, Cleft palate, Rocker bot... |
OMIM:601808 |
Acrocephalopolydactyly |
|
Thoracic hypoplasia, Depressed nasal ridge, Short long bone, Short nose, Limb undergrowth, Short ... |
ORPHA:221054 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Distal arthrogryposis, High palate, Coxa valga, Deep philtrum, Short stature, Optic atrophy, Micr... |
OMIM:619833 |
17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Short nose, Congenit... |
ORPHA:217385 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Epiphyseal stippling, Limitation of joint mobility, Spina bifida occul... |
ORPHA:177 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Bifid uvula, Hip disl... |
OMIM:615777 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, High palate, Conotruncal defect, Abnormality of the calcaneus, Mic... |
ORPHA:40366 |
Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Polydactyly, Wide nasal bridge, Delayed eruption of teeth, Recurrent a... |
OMIM:247200 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Underdeveloped nasal alae, Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtr... |
OMIM:616549 |
Tonne-Kalscheuer Syndrome |
|
Convex nasal ridge, Prominent nose, Short stature, Widely spaced teeth, Decreased testicular size... |
OMIM:300978 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Flexion contracture, Tapered finger, Ventricular septal defect, Interphalangeal thumb joint contr... |
OMIM:613870 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Micrognathia, Posterior rib fusion, Butterfly vertebrae, Pleural e... |
OMIM:265380 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Multiple joint contractures, Campto... |
OMIM:300244 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, High palate, Narrow palate, Long philtrum, Short long bone, Convex nasal ridge, Micro... |
OMIM:617022 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Cerebral cortical atrophy, Wide nasal bridge, Micrognathia, 2-3 toe cutaneous syndactyly, Smooth ... |
OMIM:618454 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Convex nasal ridge, High palate, Broad secondary alveolar ridge, Short stature, Wide nasal bridge... |
ORPHA:3369 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Wide nasal bridge, Micrognathia, Bifid uvula, Camptodactyly, Fibular ... |
OMIM:300373 |
Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Wide nasal bridge, Hypoplastic labia majora, Limb undergrowth, Smooth philtr... |
OMIM:619124 |
Temple-Baraitser Syndrome |
|
Wide nose, Long philtrum, Wide mouth, Pulmonic stenosis, Long hallux, Atrial septal defect, Pseud... |
OMIM:611816 |
Spondyloepiphyseal Dysplasia Congenita |
|
Increased head circumference, Micrognathia, Short femur, Aplasia/hypoplasia involving bones of th... |
ORPHA:94068 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna |
ORPHA:1122 |
Achondrogenesis Type 2 |
|
Unossified sacrum, Abnormal bone ossification, Pierre-Robin sequence, Short stature, Short ribs, ... |
ORPHA:93296 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Wide nasal bridge, Abnormal autonomic nervous system physiology, B... |
ORPHA:453499 |
Coffin-Lowry Syndrome |
|
Tapered finger, Coxa valga, Lumbar kyphosis, Pectus excavatum, Everted lower lip vermilion, Broad... |
OMIM:303600 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, High palate, Mesomelic/rhizomelic limb shortening, Short femora... |
ORPHA:2632 |
Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Thoracic hypoplasia, Everted upper lip vermilion, Petechiae, Micrognathia, Purpura,... |
OMIM:608013 |
Zellweger Syndrome |
|
Respiratory insufficiency, Wide nasal bridge, Optic atrophy, Micrognathia, Epiphyseal stippling, ... |
ORPHA:912 |
Seckel Syndrome 5 |
|
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Cleft palate, Abnormal cortical gyrat... |
OMIM:613823 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Wide nasal bridge, Delayed erupti... |
OMIM:305620 |
Thanatophoric Dysplasia Type 1 |
|
Respiratory insufficiency, Short femur, Abnormal metaphysis morphology, Atrial septal defect, Pla... |
ORPHA:1860 |
Galloway-Mowat Syndrome 7 |
|
Arachnodactyly, High palate, Hallux valgus, Short stature, Ventricular septal defect, Micrognathi... |
OMIM:618348 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Polymicrogyria, Patent foramen ovale, Hypoplasia of the brainstem, Ventricular ... |
ORPHA:500159 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Narrow pelvis bone, Overlapping toe, Short neck, Short fourth metatarsal, Limited elbow extension... |
OMIM:616723 |
Xk Aprosencephaly Syndrome |
|
Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology of the radius, Anal a... |
ORPHA:3469 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Abnormal sternum morphology, Ventricular septal defect, Short ri... |
ORPHA:2519 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Leukoencephalopathy, Polydactyly, Patent foramen ovale, Flexion contracture, Abnormal mitochondri... |
ORPHA:17 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, High palate, Long philtrum, Bilateral talipes equinovarus, Mitral valve pro... |
OMIM:615539 |
Micro Syndrome |
|
Cerebral cortical atrophy, Wide nasal bridge, Optic atrophy, Micrognathia, Lissencephaly, Hypopla... |
ORPHA:2510 |
Lethal Kniest-Like Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Abnormality of the ischium, Hypoplastic ilia, Short ribs, A... |
ORPHA:2347 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Pectus excavatum, Cleft palate, Talipes equinovarus, Ventricular septal defect, Microcephaly, Cry... |
OMIM:612530 |
Potocki-Lupski Syndrome |
|
Dental malocclusion, Patent foramen ovale, Mandibular prognathia, High palate, Wide mouth, Short ... |
OMIM:610883 |
Thanatophoric Dysplasia Type 2 |
|
Respiratory insufficiency, Short thorax, Short stature, Kyphosis, Macrocephaly, Limitation of joi... |
ORPHA:93274 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Optic atrophy, Micrognathia, Hip dysplasia, Short nose, Hypertrophic cardi... |
OMIM:617183 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Metatarsus adductus, Pectus excavatum, Cleft ... |
ORPHA:2461 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Respiratory insufficiency, Cerebral cortical atrophy, Optic atrophy, Micrognathia, Smooth philtru... |
OMIM:617527 |
Frontoocular Syndrome |
|
High palate, Coronal craniosynostosis, Micrognathia, Narrow philtrum, Atrial septal defect, Pectu... |
OMIM:605321 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Cerebellar hypoplasia, Clinodactyly, Short philtrum, Camptodactyly, At... |
OMIM:300963 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad thumb, Smooth ph... |
OMIM:614526 |
Hajdu-Cheney Syndrome |
|
Abnormal mandible morphology, Wide nasal bridge, Micrognathia, Skin ulcer, Osteolysis, Short neck... |
ORPHA:955 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Microdontia, Bifid uvula, Camptodactyly, Hip dis... |
OMIM:613458 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Palmoplantar cutis laxa, Megalencephaly, Central apnea, Lumbar hyperlordosis, Respiratory distres... |
OMIM:616482 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Convex nasal ridge, Short stature, Kyphosis, Fused cervical vertebrae, Abnormality... |
ORPHA:2522 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Wrist flexion contracture, Micrognathia, Metatarsus adductus, Overlapping toe, Abnormal columella... |
ORPHA:436003 |
20Q11.2 Microduplication Syndrome |
|
Wide nasal bridge, Abnormal nasal bridge morphology, Abnormal oral frenulum morphology, Pectus ex... |
ORPHA:363659 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Tapered finger, Wide nasal bridge, Micrognathia, Prominent nasal tip, Ventric... |
OMIM:619312 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Cleft upper lip, Ventricular septal defect, Wide mout... |
ORPHA:261236 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Episodic tachypnea, Micrognathia, Supernumerary ribs, Apneic episodes in infancy, S... |
ORPHA:163961 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Limb undergrowth, Short neck, Narrow greater sciatic notch, Lumbar hyperlor... |
OMIM:602557 |
Marshall-Smith Syndrome |
|
Retrognathia, Increased susceptibility to fractures, Bowing of the long bones, Optic atrophy, Cer... |
ORPHA:561 |
Multiple Pterygium Syndrome, X-Linked |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Cleft upper lip, De... |
OMIM:312150 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Sacral dimple, Long philtrum, Short stature, Atrial septal defect, Single tr... |
OMIM:615502 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... |
OMIM:253010 |
Temple-Baraitser Syndrome |
|
Delayed phalangeal epiphyseal ossification, Everted upper lip vermilion, Delayed eruption of teet... |
ORPHA:420561 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Underdeveloped nasal alae, High palate, Short stature, Delayed eruption of teeth, Clinodactyly, S... |
OMIM:615866 |
Temple Syndrome |
|
Wide nose, Flexion contracture, High palate, Precocious puberty, Short stature, Small hand, Decre... |
OMIM:616222 |
Ring Chromosome 10 Syndrome |
|
Tapered finger, Long philtrum, Wide nasal bridge, Micrognathia, Aganglionic megacolon, Pectus exc... |
ORPHA:1438 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Prominent nasal tip, Broad distal phalanx of the toes, Everted lower lip verm... |
ORPHA:464738 |
Neu-Laxova Syndrome |
|
Ambiguous genitalia, Flexion contracture, Micrognathia, Bifid uvula, Lissencephaly, Everted lower... |
ORPHA:2671 |
Contractural Arachnodactyly, Congenital |
|
Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus add... |
OMIM:121050 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Large iliac wing, Aplasia/hypoplasia of the femur, Micrognathia, Bifid uvula, Abnormal distal pha... |
ORPHA:2636 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Wide nasal bridge, Toe syndactyly, Microdontia, Broad hallux, Postaxial hand p... |
OMIM:620107 |
Pitt-Hopkins Syndrome |
|
Tapered finger, Abnormal pattern of respiration, Short neck, Postnatal growth retardation, Overha... |
ORPHA:2896 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, Metatarsal synostosis,... |
ORPHA:93307 |
Cardiofaciocutaneous Syndrome 1 |
|
Hypoplasia of the frontal lobes, Cerebral cortical atrophy, Micrognathia, Pectus excavatum, Hyper... |
OMIM:115150 |
Emanuel Syndrome |
|
Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Sacral dimple, Broad jaw, Ve... |
OMIM:609029 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Rhizomelia, Short metacarpal,... |
OMIM:608940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Underdeveloped nasal alae, Hyperlordosis, High palate, Pectus carinatum, Wide mouth, Short statur... |
OMIM:300986 |
Developmental And Epileptic Encephalopathy 73 |
|
Flexion contracture, Hip dysplasia, Short nose, Narrow nasal bridge, Scoliosis, Microcephaly, Hyp... |
OMIM:618379 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,... |
OMIM:180700 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Ventricular hypertrophy, Convex nasal ridge, Coxa valga, Narrow nasal tip, Delayed erup... |
ORPHA:740 |
Smith-Magenis Syndrome |
|
Precocious puberty, Wide nasal bridge, Toe syndactyly, Micrognathia, Taurodontia, Cleft palate, A... |
ORPHA:819 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Coxa valga, Wide nasal bridge, Micrognathia, Hypoplastic l... |
ORPHA:3107 |
Mucopolysaccharidosis-Plus Syndrome |
|
Wide nose, Cerebral calcification, Flexion contracture, Pectus carinatum, Wide nasal bridge, Opti... |
OMIM:617303 |
Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Ambiguous genitalia, Absent thumb, Finger syndactyly, Toe syndactyly, ... |
ORPHA:1234 |
Trisomy 18P |
|
Underdeveloped nasal alae, Short stature, Abnormal finger morphology, Wide nasal bridge, Microgna... |
ORPHA:1715 |
Multiple Metaphyseal Dysplasia |
|
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Depressed nasal ridge, Short stature, Abnormal me... |
ORPHA:93430 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Wide nasal bridge, Microdontia, Narrow pelvis bone, Tooth agenesis, Abnormal ... |
ORPHA:2637 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Retrognathia, Prominent nose, Cleft soft palate, Abnormal preputium morphology, Primary microceph... |
ORPHA:293725 |
Mogs-Cdg |
|
Retrognathia, Wide nose, Hypoventilation, High palate, Thoracic scoliosis, Optic atrophy, Externa... |
ORPHA:79330 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Pectus excavatum, Ovoid vertebral bodies, Limited elbow extension, Narrow gr... |
OMIM:608728 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Optic atrophy, Micrognathia, Hip dysplasia, Short nose, Optic nerve hypopl... |
ORPHA:496790 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Wide nasal bridge, Micrognathia, Short philtrum, Respiratory distress, Microcephaly, Thin vermili... |
ORPHA:261304 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Short stature, Micrognathia, Atrial septal defect, Short nose, Hypopla... |
ORPHA:79113 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Rhizomelia, Short stature, Ventricular septal defect, Micrognathia, ... |
OMIM:614114 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Rhizomelia, Absent nasal bridge, Short finger, Relative macrocephaly, Join... |
OMIM:612813 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Long philtrum, Perianal abscess, Wide mouth, Small hand, Wide nasal brid... |
OMIM:614684 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Wide mouth, Kyphosis, Macrocephaly, Short philtrum, Short nose, Everted lo... |
ORPHA:2429 |
Roberts Syndrome |
|
Wrist flexion contracture, Micrognathia, Long penis, Phocomelia, Radial deviation of finger, Shor... |
ORPHA:3103 |
Glutamine Deficiency, Congenital |
|
Flexion contracture, Wide nasal bridge, Camptodactyly, Short nose, Apnea, Depressed nasal bridge,... |
OMIM:610015 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Left unicoronal synostosis, Wide nasal bridge, Aganglionic megacolon, Shortening of all distal ph... |
OMIM:614749 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Preaxial hand polyda... |
ORPHA:2549 |
Charlie M Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Wide nasal bridge, Micrognathia, A... |
ORPHA:1406 |
Roifman Syndrome |
|
Irregular capital femoral epiphysis, Broad femoral head, Postnatal growth retardation, Short toe,... |
ORPHA:353298 |
Short Stature And Facioauriculothoracic Malformations |
|
Cleft upper lip, High palate, Ventricular septal defect, Cervical ribs, Pectus excavatum, Short n... |
OMIM:609654 |
Phocomelia, Schinzel Type |
|
Humeroradial synostosis, Micrognathia, Short neck, Cleft palate, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:2879 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Micrognathia, Short palm, Arthrogryposis multiplex congenita, Talipes ... |
ORPHA:85201 |
Larsen Syndrome |
|
Spatulate thumbs, Hip dislocation, Tracheomalacia, Elbow dislocation, Pectus excavatum, Spina bif... |
OMIM:150250 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Long philtrum, Wide anterior fontanel, Cutis laxa, Polymicrogyria, Joint hypermobili... |
OMIM:219200 |
Trisomy 10P |
|
Primary microcephaly, Micrognathia, Abnormal lip morphology, Abnormal auditory evoked potentials,... |
ORPHA:171929 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Kyphosis, Micrognathia, Camptodactyly, ... |
OMIM:619123 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Short stature, Pectus excavatum, Bowing of the legs, Disproportionate short-... |
ORPHA:156728 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Respiratory insufficiency, Preaxial hand poly... |
ORPHA:1120 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Mandibular prognathia, Tapered finger, Long philtrum, Short stature, Thoracic hemive... |
OMIM:619721 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Rhizomelia, Short stature, Angulated humerus, Short long bone, Multiple rib ... |
OMIM:616229 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Thick upper lip vermilion, Wide nasal bridge, Short lingual frenulum, Microdontia, Camptodactyly,... |
OMIM:617360 |
Plaa-Associated Neurodevelopmental Disorder |
|
Respiratory insufficiency, Optic atrophy, Micrognathia, Smooth philtrum, Postaxial hand polydacty... |
ORPHA:521426 |
Jeune Syndrome |
|
Respiratory insufficiency, Abnormal sternum morphology, Short thorax, Short stature, Toe syndacty... |
ORPHA:474 |
Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Wide nasal bridge, Beaking of vertebral bodies, Thoracic platyspondyly, ... |
OMIM:619636 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, Tracheomalacia, Pectus excavatum, Everted lower lip vermi... |
OMIM:234100 |
Baller-Gerold Syndrome |
|
Abnormal carpal morphology, Abnormal cardiac septum morphology, Micrognathia, Cleft palate, Aplas... |
ORPHA:1225 |
Warburg Micro Syndrome 3 |
|
Flexion contracture, Narrow palate, Cerebral cortical atrophy, Optic atrophy, Decreased testicula... |
OMIM:614222 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Flexion contracture, High palate, Acroosteolysis of distal phalanges (fe... |
OMIM:608612 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Flexion contracture, Tapered finger, Cerebral cortical atrophy, Toe syndactyly, Micrognathia, Eve... |
OMIM:619720 |
Smith-Kingsmore Syndrome |
|
Hemimegalencephaly, Thoracic hypoplasia, Long philtrum, Wide mouth, Rhizomelia, Wide anterior fon... |
OMIM:616638 |
Kinsship Syndrome |
|
Polydactyly, Coxa valga, Primary microcephaly, Micrognathia, Hip dislocation, Cervical ribs, Disl... |
OMIM:619297 |
Noonan Syndrome 2 |
|
Atrioventricular canal defect, Abnormal sternum morphology, High palate, Palmoplantar cutis laxa,... |
OMIM:605275 |
Marden-Walker Syndrome |
|
Micrognathia, Camptodactyly, Short neck, Cleft palate, Talipes equinovarus, Postnatal growth reta... |
OMIM:248700 |
Myhre Syndrome |
|
Respiratory insufficiency, 2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping t... |
OMIM:139210 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Broad alveolar... |
OMIM:164200 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Joint contracture of the hand, Short ribs, Short long bone... |
OMIM:224400 |
Opsismodysplasia |
|
Short phalanx of finger, Respiratory insufficiency, Severe platyspondyly, Hypoplastic vertebral b... |
OMIM:258480 |
Jacobsen Syndrome |
|
Flexion contracture, Optic atrophy, Micrognathia, Pectus excavatum, Short neck, Ventricular septa... |
OMIM:147791 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Convex nasal ridge, Patellar hypoplasia, Patellar aplasia, Short stature, Short... |
OMIM:617604 |
Blackfan-Diamond Anemia |
|
Absent thumb, Cleft soft palate, Wide nasal bridge, Micrognathia, Short neck, Abnormality of the ... |
ORPHA:124 |
Noonan Syndrome 11 |
|
Palmoplantar cutis laxa, Short stature, Relative macrocephaly, Atrial septal defect, Pectus excav... |
OMIM:618499 |
Coffin-Siris Syndrome |
|
Short 5th finger, Delayed eruption of teeth, Thick nasal alae, Postnatal growth retardation, Aspi... |
ORPHA:1465 |
Dubowitz Syndrome |
|
Respiratory insufficiency, Delayed eruption of teeth, Toe syndactyly, Micrognathia, Metatarsus ad... |
ORPHA:235 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Pectus excavatum, Short neck, Rocker bottom foot, Patent foramen ovale, Ventricular septal defect... |
OMIM:612582 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Long philtrum, Narrow chest, Elbow ankylosis, Narro... |
ORPHA:83 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Genu varum, Genu valgum, Coxa vara, Short stature, Abnormality of the epiphyses of the feet, Ulna... |
ORPHA:166002 |
Verloove Vanhorick-Brubakk Syndrome |
|
Non-midline cleft lip, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Abnormal ... |
ORPHA:3429 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Wide nasal bridge, Delayed eruption of teeth, Pericardial effusion, Mild postnatal growth retarda... |
OMIM:235510 |
Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Coxa valga, Advanced eruption of teeth, Macrocephaly, Cutis ... |
OMIM:614753 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Rhizomelia, Short long bone, ... |
ORPHA:1190 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Tapered finger, Wide nasal bridge, 2-3 toe cutaneous syndactyly, Contracture of the proximal inte... |
OMIM:300998 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
High palate, Wide mouth, Optic atrophy, Cerebellar hypoplasia, Slender long bone, Joint hypermobi... |
OMIM:618590 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Limited elbow extension, Cleft palate, Scapular winging, Disproportionate short-trunk... |
OMIM:272460 |
Craniometadiaphyseal Dysplasia |
|
Coxa valga, Microdontia, Megalencephaly, Sclerosis of skull base, Genu valgum, Flared metaphysis,... |
OMIM:269300 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Micrognathia, Camptodactyly, Lissencephaly, Overlapping toe, Pleural effusi... |
OMIM:617822 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Apnea, Secondary microcephaly, Cerebellar vermis hypoplasia |
OMIM:610992 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar... |
OMIM:208530 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft mandible, Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Microgna... |
OMIM:268305 |
Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Narrow pelvis bone, Abnormal rib morphology, Post... |
ORPHA:3380 |
Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Abnormality of the upper limb, Abnormal finger morphology, Cutaneous fin... |
ORPHA:896 |
Premature Aging Syndrome, Penttinen Type |
|
Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption of teeth, Micrognathia, Palmoplan... |
OMIM:601812 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Short 4th toe, Short lower limbs, Cone-shaped epiphyses of the phalanges of the hand, E... |
ORPHA:420794 |
Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Decreased nasal nitric oxide, Short stature, Cutaneous finger syndacty... |
OMIM:614378 |
Distal Monosomy 3P |
|
Sacral dimple, Atrioventricular canal defect, High palate, Long philtrum, Short stature, Microgna... |
ORPHA:1620 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Shortening of all distal phalanges of the fingers, Thin corpus callosum, Short... |
OMIM:615716 |
Skraban-Deardorff Syndrome |
|
Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... |
OMIM:617616 |
Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Spina bifida occulta, Sacral dimple, Ventricular septal defect, Esophageal atresia, ... |
OMIM:301030 |
19Q13.11 Microdeletion Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Finger syndactyly, Wide mouth, Bifid scrotum, Toe syndac... |
ORPHA:217346 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Horizontal ribs, Ambiguous genitalia, Respiratory insufficiency, Bifid tongue, Hypop... |
OMIM:616300 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Flexion contracture, Abnormal autonomic nervous system physiology, Elbow... |
ORPHA:3206 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Thoracic hypoplasia, Squared-off platyspondyly, Premature osteoarthritis, Limb undergrowth, Short... |
ORPHA:93352 |
Craniofacioskeletal Syndrome |
|
Hypoplastic frontal sinuses, Micrognathia, Cleft palate, Short palm, Choanal atresia, Ventricular... |
OMIM:300712 |
Esophageal Atresia |
|
Cyanosis, Cleft palate, Duodenal atresia, Choanal atresia, Ventricular septal defect, Respiratory... |
ORPHA:1199 |
8Q12 Microduplication Syndrome |
|
Long philtrum, Wide nasal bridge, Ventricular septal defect, Atrial septal defect, Everted lower ... |
ORPHA:228399 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Short stature, External genital hypoplasia, Hand polydactyly, Atrial s... |
OMIM:249670 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Microcephaly, Short stature |
ORPHA:2435 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Convex nasal ridge, High palate, Ventricular septal defect, Short stat... |
OMIM:314320 |
3Q29 Microdeletion Syndrome |
|
Subvalvular aortic stenosis, Pulmonary arterial hypertension, High palate, Tapered finger, Pectus... |
ORPHA:65286 |
Achondrogenesis, Type Ib |
|
Respiratory insufficiency, Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Short... |
OMIM:600972 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Respiratory insufficiency, Convex nasal ridge, Thoracic ... |
OMIM:166210 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Precocious puberty, High palate, Small hand, Short stature, Micrognathia, Pyloric sten... |
ORPHA:96184 |
Ohdo Syndrome |
|
Small scrotum, Long philtrum, Short stature, Widely spaced teeth, Wide nasal bridge, Micrognathia... |
OMIM:249620 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Convex nasal ridge, Long philtrum, Short foot, Small hand, Micrognathia, Bifid uvula, Patchy oste... |
OMIM:241410 |
Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Convex nasal ridge, Micrognathia, Osteolysis, Progeroid facial appearance, R... |
OMIM:614008 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Hypogonadism, Short stature, External genital hypoplasia, Respiratory distress |
OMIM:615993 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Short metacarpal, Narrow chest, Mesomelia, Brachydactyly, Postaxial hand polydactyly,... |
OMIM:611263 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hip subluxation, Wide nasal bridge, Optic atrophy, Micrognathia, Unilateral cryptorchidism, Propo... |
OMIM:613457 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Achondrogenesis, Type Ii |
|
Hypoplastic iliac wing, Horizontal ribs, Long philtrum, Short tubular bones of the hand, Short ri... |
OMIM:200610 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Limb und... |
OMIM:618019 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Prominent nasolabial fold, Redundant neck skin, Lissencephaly, Smooth philtrum, Prominent veins o... |
ORPHA:357074 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Wide nasal bridge, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion ... |
ORPHA:1692 |
Trisomy 20P |
|
Camptodactyly of finger, Ectopic anus, Micrognathia, Microdontia, Abnormal autonomic nervous syst... |
ORPHA:261318 |
Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Respiratory insufficiency, Coxa valga, Increased bo... |
ORPHA:800 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
Trisomy 1Q |
|
Camptodactyly of finger, Wide nose, Ambiguous genitalia, Preaxial hand polydactyly, Arachnodactyl... |
ORPHA:261344 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... |
OMIM:609616 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Optic atrophy, Death in infancy, Micrognathia, Limitation of joint mobility, L... |
ORPHA:99742 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... |
ORPHA:1106 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Long philtrum, Wide nasal bridge, Short stature, Short nose, Depressed nasal bridge, Anteverted n... |
OMIM:616430 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th toe, Hypoplastic labia majora, Short neck, Cleft... |
OMIM:244300 |
Zaki Syndrome |
|
Wide nose, Patent foramen ovale, Sacral dimple, High palate, Wide mouth, Short stature, Toe synda... |
OMIM:619648 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Increased head circumference, Thick corpus callosum, Left ventricular noncompactio... |
OMIM:300967 |
Facial Paresis, Hereditary Congenital, 3 |
|
High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas... |
OMIM:614744 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Obtuse angle of mandible, Symphalangism affecting the phalanges of the h... |
ORPHA:2741 |
Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Short thorax, Hypogonadism, Kyphosis, Short philtrum, Hypoplasia of penis, Short nos... |
ORPHA:2983 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Palmoplantar cutis laxa, Optic atrophy, Bifid uvula, Hypoplastic labia majora, Redundant neck ski... |
OMIM:123790 |
Fryns Syndrome |
|
Thoracic hypoplasia, Wide nasal bridge, Camptodactyly, Short neck, Hypoplasia of the optic tract,... |
OMIM:229850 |
Opsismodysplasia |
|
Respiratory insufficiency, Tapered finger, Hypoplastic pubic bone, Macrocephaly, Joint stiffness,... |
ORPHA:2746 |
Fontaine Progeroid Syndrome |
|
Respiratory insufficiency, Convex nasal ridge, Pneumothorax, Recurrent aspiration pneumonia, Micr... |
OMIM:612289 |
Coffin-Siris Syndrome 7 |
|
Wide nose, Sagittal craniosynostosis, Patent foramen ovale, Convex nasal ridge, Ventricular septa... |
OMIM:618027 |
Edinburgh Malformation Syndrome |
|
Respiratory insufficiency, Micrognathia, Ulnar deviation of finger, Short nose, Downturned corner... |
ORPHA:1895 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Meckel Syndrome 14 |
|
Retrognathia, Cyanosis, Ambiguous genitalia, Pneumothorax, Micrognathia, Microretrognathia, Posta... |
OMIM:619879 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Ventricular septal defect, Secundum atrial septal defect, Complete... |
OMIM:613854 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Pectus excavatum, Smooth philtrum, Slender finger, Patent foramen ovale, Ventricular septal defec... |
ORPHA:329224 |
Mosaic Trisomy 16 |
|
Abnormality of the cervical spine, Short femoral neck, Wide mouth, Craniofacial asymmetry, Short ... |
ORPHA:1708 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Talipes equinovarus... |
OMIM:613803 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Absent nares, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia involving the nose, Mandib... |
ORPHA:990 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Small hand, Short stature, Widely spaced teeth, Micrognathia, Agenesis... |
ORPHA:459061 |
Apert Syndrome |
|
Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus, Bifid uvula, Megalencephaly, Po... |
OMIM:101200 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Retrognathia, Wide nose, Short stature, Esophageal atresia, Fused cervical vertebrae, Submucous c... |
OMIM:619227 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Tapered ... |
ORPHA:2215 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Tapered finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Radial deviation of finge... |
OMIM:272430 |
Trichorhinophalangeal Syndrome, Type I |
|
Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Mic... |
OMIM:190350 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Ventricular sept... |
OMIM:169400 |
Doors Syndrome |
|
Ambiguous genitalia, Short 5th finger, Wide nasal bridge, Optic atrophy, Short lingual frenulum, ... |
ORPHA:79500 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Gonadal dysgenesis, ma... |
OMIM:231060 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Underdeveloped nasal alae, Wide nose, Abnormality of the upper limb, Wide nasal bridge, Clinodact... |
ORPHA:521308 |
Hypoglossia With Situs Inversus |
|
High palate, Hypodontia, Micrognathia, Respiratory distress, Narrow mouth, Microglossia, Situs in... |
OMIM:612776 |
Distal Trisomy 17Q |
|
Hallux valgus, Micrognathia, Overlapping toe, Cleft palate, Genu valgum, Hand polydactyly, Microc... |
ORPHA:3379 |
Sonoda Syndrome |
|
Ventricular septal defect, Short stature, High axial triradius, Depressed nasal bridge, Narrow mouth |
OMIM:270460 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Micrognathia, Radial bowing, Missing ribs, U... |
OMIM:617866 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Proportionate short stature, Lumbar hyperlordosis, Broad phalanges of the hand,... |
OMIM:277600 |
Dpm1-Cdg |
|
Knee flexion contracture, Hypoplasia of the frontal lobes, Optic atrophy, External genital hypopl... |
ORPHA:79322 |
White-Sutton Syndrome |
|
Micrognathia, Bifid uvula, Optic nerve hypoplasia, Short neck, Hypoplastic cervical vertebrae, De... |
OMIM:616364 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
High palate, Tapered finger, Short stature, Wide nasal bridge, Pericardial effusion, Micrognathia... |
OMIM:620070 |
Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Hypointensity of cerebral white matter on MRI, Short nose, Thin upper lip vermilio... |
ORPHA:46 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Atrioventricular canal defect, Unbalanced atrioventricular c... |
OMIM:619534 |
Arterial Tortuosity Syndrome |
|
Coxa valga, Hip dislocation, Hypertrophic cardiomyopathy, Abnormal zygomatic bone morphology, Pre... |
ORPHA:3342 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis, Pectus carinatum, Short stature, Craniofacial hyperostosis, Hypoplasia of penis, L... |
ORPHA:3068 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Horizontal ribs, Atrioventricular canal defect, Short stature, Short ribs, Short long bone, Hypod... |
OMIM:617088 |
Bainbridge-Ropers Syndrome |
|
Precocious puberty, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Contracture of ... |
OMIM:615485 |
Tyshchenko Syndrome |
|
High palate, Narrow palate, Short stature, Ventricular septal defect, Pulmonic stenosis, Atrial s... |
OMIM:615102 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Respiratory insufficiency, Depressed nasal ridge, Micrognathia, Hypoplasia of penis, Hypospadias,... |
ORPHA:1046 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Long philtrum, Short stature, Short nose, Thin upper lip vermilion, Depressed nasal bridge, Progr... |
ORPHA:438178 |
Oligomeganephronia |
|
Branchial cyst, Micrognathia, Secundum atrial septal defect, Optic disc coloboma |
ORPHA:2260 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Severe short stature, Downturned corners of mouth, Microcephaly, Brachydactyly... |
ORPHA:2643 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Precocious puberty, High palate, Ventricular septal defect, Hypogonadism, Sho... |
ORPHA:3306 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Gonadal dysgenesis |
OMIM:611926 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Depressed nasal ridge, Short middle phalanx of the 5th finger, Ventri... |
ORPHA:46627 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, High palate, Ventricular septal defect, Short stature, Cerebellar hypopl... |
OMIM:612946 |
Desmosterolosis |
|
Aplasia/Hypoplasia of the corpus callosum, Rhizomelia, Joint contracture of the hand, Ambiguous g... |
OMIM:602398 |
Koolen-De Vries Syndrome |
|
Hip dislocation, Pectus excavatum, Everted lower lip vermilion, Slender finger, Cleft palate, Sac... |
OMIM:610443 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thick upper lip vermilion, High palate, Short stature, Prominent nasal bridge, Short nose, Thin u... |
OMIM:300558 |
Schinzel-Giedion Syndrome |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Micrognathia, Abnormal thorax morphology, C... |
ORPHA:798 |
Degcags Syndrome |
|
Polydactyly, Ambiguous genitalia, Premature graying of hair, Toe syndactyly, Micrognathia, Trache... |
OMIM:619488 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Long philtrum, Macrocephaly, Atrial septal defect, Overlapping toe, Scoliosis, Microcephaly, Cryp... |
ORPHA:466926 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Wide nasal bridge, Aplasia/hypoplasia of the femur, Elbow flexion contra... |
OMIM:276820 |
Multiple Pterygium Syndrome, Lethal Type |
|
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Depressed nasal rid... |
OMIM:253290 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Flared iliac wing, Focal lissencephaly, Irregular tarsal bones, Short ne... |
OMIM:250220 |
Costello Syndrome |
|
Lack of skin elasticity, Cerebral cortical atrophy, Narrow palate, Ventricular septal defect, Sho... |
ORPHA:3071 |
Restrictive Dermopathy 1 |
|
Flexion contracture, Convex nasal ridge, Micrognathia, Ankylosis, Scaling skin, Rocker bottom foo... |
OMIM:275210 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Respiratory distress, Microcephaly, Intrauterine growth retardation, Cardiomyopathy |
ORPHA:26792 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Macrocephaly, Pulmonic stenosis, Cerebral atrophy |
OMIM:614300 |
Osteogenesis Imperfecta |
|
Flexion contracture, Convex nasal ridge, Thoracic hypoplasia, Delayed eruption of teeth, Microgna... |
ORPHA:666 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Wide nasal bridge, Prominent nasal tip, Camptodactyly, Metatarsus adductus, Everted lower lip ver... |
OMIM:612513 |
Alg9-Cdg |
|
Convex nasal ridge, Pericardial effusion, Micrognathia, Abnormal left ventricular outflow tract m... |
ORPHA:79328 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Short neck, Limited elbow extension, Beaking of vertebral bodies, Disprop... |
ORPHA:239 |
Alazami Syndrome |
|
Wide nose, Mild microcephaly, Wide mouth, Widely spaced teeth, Slender long bone, Short philtrum,... |
ORPHA:319671 |
Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Coxa valga, Depressed nasal ridge, Wide nasal bridge, Cone-shaped metacarp... |
ORPHA:1240 |
Cerebrocostomandibular Syndrome |
|
Bell-shaped thorax, Ventricular septal defect, Short stature, Death in infancy, Kyphosis, Microgn... |
ORPHA:1393 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Global brain atrophy, Flexion contracture, Hyperintensity of cerebral white matter on MRI, Hip di... |
ORPHA:481152 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Wide nasal bridge, Camptodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the cerebellum, Macr... |
ORPHA:397709 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, ... |
OMIM:619148 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Flexion contracture, Humeroradial synostosis, Narrow pelvis bone, Camptodactyly, Hypoplastic labi... |
OMIM:207410 |
Osteogenesis Imperfecta, Type Xiii |
|
Enlarged thorax, Increased bone mineral density, Dislocated radial head, Reduced bone mineral den... |
OMIM:614856 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Severe short stature, Platys... |
ORPHA:168555 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, De... |
OMIM:613751 |
Asbestos Intoxication |
|
Cyanosis, Respiratory failure, Exertional dyspnea, Late inspiratory crackles, Hypoxemia, Clubbing... |
ORPHA:2302 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Short stature, Bicornuate uterus, Micrognathia, Azoospermia, Sprengel anomaly, A... |
OMIM:601076 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Macrocephaly, Short nose, Broad nasal tip, Malar flattening, Open mouth |
OMIM:613670 |
Occipital Horn Syndrome |
|
Coxa valga, Large iliac wing, Hip dislocation, Abnormality of the wrist, Pectus excavatum, Osteol... |
ORPHA:198 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Tapered finger, Long philtrum, Prominent nose, Cerebellar hypoplasia, Thick lower lip vermilion, ... |
OMIM:614407 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short phalanx of finger, Gingival hyperkeratosis, Micrognathia, Everted lower lip vermilion, Frag... |
OMIM:225410 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Prominence of the zygomatic bone, Everted lower lip vermilion, Cleft palate, Apla... |
ORPHA:364577 |
Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Pfeiffer Syndrome Type 2 |
|
Hallux varus, High palate, Short foot, Small hand, Finger syndactyly, Toe syndactyly, Anal atresi... |
ORPHA:93259 |
Sweeney-Cox Syndrome |
|
Wide nasal bridge, Micrognathia, 2-4 finger syndactyly, Bilateral talipes equinovarus, Choanal at... |
OMIM:617746 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory insufficiency, Toe syndactyly, Micrognathia, Elbow contracture, Pectus excavatum, Bro... |
OMIM:304120 |
King-Denborough Syndrome |
|
High palate, Ventricular septal defect, Short stature, Deep philtrum, Thoracic kyphosis, Bilatera... |
OMIM:619542 |
Rare Circulatory System Disease |
|
Cyanosis, Abnormal hand morphology, Abnormality of the elbow, Abnormal finger morphology, Thoraci... |
ORPHA:98028 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Ventricular septal defect, Cutis marmorat... |
OMIM:615297 |
Weill-Marchesani Syndrome 2 |
|
Thin bony cortex, Elbow flexion contracture, Proportionate short stature, Flexion contracture of ... |
OMIM:608328 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Horizontal ribs, Ambiguous genitalia, Thoracic dysplasia, Median cleft lip, Lateral clavicle hook... |
OMIM:263520 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Obtuse angle of mandible, Broad femoral neck, High palate, Coxa valga, Short tu... |
ORPHA:85184 |
Osteogenesis Imperfecta, Type Ix |
|
Dentinogenesis imperfecta, Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphos... |
OMIM:259440 |
Fryns Syndrome |
|
Non-midline cleft lip, Cerebral cortical atrophy, Ectopic anus, Wide nasal bridge, Abnormal cardi... |
ORPHA:2059 |
Al-Raqad Syndrome |
|
Joint laxity, Atrial septal defect, Short nose, Thin upper lip vermilion, Narrow mouth, Sandal ga... |
OMIM:616459 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Wide nasal bridge, Cardiac rhabdomyoma, Short dis... |
OMIM:109400 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Hypoplastic pubic bone, Coxa vara, Anterior... |
OMIM:184250 |
Koolen-De Vries Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Microdontia, Hip dislocation, Pectus excav... |
ORPHA:96169 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Bifid scrotum, Cutaneous finger syndactyly, Micrognathia, Aplasia/Hypoplasia o... |
OMIM:606851 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, Camptodactyly, Broad hallux, Smooth philtrum, Cleft palate, Choanal atresia, Vent... |
OMIM:301044 |
Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Wide nasal b... |
OMIM:618067 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Long philtrum, Cerebellar hypoplasia, Respiratory distress, Lissencephaly, Shor... |
ORPHA:50810 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Camptodactyly, Metatarsus adductus, Pectus excavatum, Proportionate short stature, Vertebral fusi... |
OMIM:227330 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Short metatarsal, Underdeveloped nasal alae, Long philtrum, Short statur... |
OMIM:190351 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cerebral cortical atrophy, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, E... |
OMIM:214100 |
Schilbach-Rott Syndrome |
|
Prominent nose, Short stature, Micrognathia, Bifid uvula, Submucous cleft hard palate, 3-4 finger... |
OMIM:164220 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormal palate morphology, Anteverted nares, Short nose |
ORPHA:1450 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Tapered finger, High palate, Prominent nose, Micrognathia, Clinodactyly of the 5th finger, Hypopl... |
OMIM:618829 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Retrognathia, Thoracolumbar scoliosis, High palate, Ventricular septal defect, Short stature, Rec... |
OMIM:300472 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Tapered finger, Cleft soft palate, Wide nasal bridge, Microdontia, Reduced su... |
OMIM:619950 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Retrognathia, High palate, Ventricular septal defect, Short stature, Macrocephaly, Pectus excavat... |
ORPHA:52055 |
Fetal Hydantoin Syndrome |
|
Triphalangeal thumb, Depressed nasal ridge, Short stature, Wide mouth, Bifid scrotum, Short nose,... |
ORPHA:1912 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Retrognathia, Patellar hypoplasia, Long philtrum, Depressed nasal ridge, Thick corpus callosum, B... |
ORPHA:464288 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Minimal subcutaneous fat, Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial hea... |
OMIM:182212 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cerebral cortical atrophy, Humeroradial synostosis, Micrognathia, Elbow flexion contracture, Spin... |
OMIM:151050 |
Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Ambiguous genitalia, Wide nasal bridge, Micrognathia, Median cleft lip... |
OMIM:612651 |
Johanson-Blizzard Syndrome |
|
Underdeveloped nasal alae, Abnormal nostril morphology, Short stature, Delayed eruption of teeth,... |
ORPHA:2315 |
Fetal Akinesia Deformation Sequence 2 |
|
Respiratory insufficiency, Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Cry... |
OMIM:618388 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Short stature, Pallor, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Global brain atrophy, Coxa valga, Butterfly vertebrae, Redundant neck skin, Optic nerve hypoplasi... |
OMIM:301056 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Short stature, Delayed eruption of teeth, Anal atresia,... |
ORPHA:884 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Prominent nasal bridge, Micrognathia, Hypopla... |
ORPHA:2083 |
C Syndrome |
|
Abnormality of the anus, Toe syndactyly, Micrognathia, Biparietal narrowing, Pectus excavatum, Di... |
ORPHA:1308 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cleft upper lip, Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Spre... |
OMIM:214300 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism, Short stature, Epiphyseal stippling, Short nose, Depressed nasal bridge, Abnormalit... |
OMIM:302950 |
Mucopolysaccharidosis Type 6 |
|
Genu valgum, Kyphosis, Thick lower lip vermilion, Abnormal heart valve morphology, Macroglossia, ... |
ORPHA:583 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Pulmonary arterial hypertension, Cleft soft palate, Short stature, Shawl scrotum, Wide nasal brid... |
ORPHA:2282 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Mandibular prognathia, High palate, E... |
ORPHA:98915 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Toe syndactyly, Pectus excavatum, Short neck, Postaxi... |
ORPHA:373 |
Kleefstra Syndrome |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Tracheomalacia, Everted lower lip vermilion... |
ORPHA:261494 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Depressed nasal ridge, Ventricular septal defect, Micrognathia, Hypoplastic left heart... |
ORPHA:1727 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Hyperextensibility at wrists, Flexion contracture, Tapered finger, Finger joint hypermobility, Hy... |
ORPHA:544503 |
Waardenburg Syndrome Type 1 |
|
Underdeveloped nasal alae, Cleft upper lip, Mandibular prognathia, Wide nasal bridge, Premature g... |
ORPHA:894 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Premature thelarche, Tapered finger, Cleft soft palate, Hallux valgus, Cerebral cort... |
ORPHA:268261 |
Noonan Syndrome 5 |
|
Abnormal sternum morphology, Mandibular prognathia, Short stature, Wide mouth, Macrocephaly, Atri... |
OMIM:611553 |
Microphthalmia, Syndromic 12 |
|
Retrognathia, Ventricular septal defect, Wide nasal bridge, Bicornuate uterus, Micrognathia, Hypo... |
OMIM:615524 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p... |
ORPHA:261330 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Cerebral cortical atrophy, Micrognathia, Bifid uvula, Abnormal oral fren... |
ORPHA:2753 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Absent ... |
OMIM:271520 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Ulnar devi... |
ORPHA:1529 |
Hypophosphatasia, Infantile |
|
Vertebral clefting, Increased susceptibility to fractures, Metaphyseal cupping, Short ribs, Death... |
OMIM:241500 |
Spinal Muscular Atrophy, Type I |
|
Respiratory insufficiency, Respiratory failure, Ventricular septal defect, Atrial septal defect, ... |
OMIM:253300 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, 2-3 toe syndactyly, Abnormal periventricular white matter morphology, Short phi... |
OMIM:613443 |
Miller-Dieker Syndrome |
|
Sacral dimple, Cerebral cortical atrophy, Clinodactyly of the 5th finger, Abnormal upper lip morp... |
ORPHA:531 |
Hurler Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Narrow pelvis bone, Everted lower lip vermilion, Shor... |
ORPHA:93473 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Clinodactyly of the 5th finger, Atrial septal defect, Spina bif... |
ORPHA:2475 |
Hydrolethalus |
|
Retrognathia, Abnormal fallopian tube morphology, Gingival cleft, Micrognathia, Arrhinencephaly, ... |
ORPHA:2189 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, Mandibular prognathia, High palate, Finger syndactyly, Humeroradial ... |
OMIM:101600 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Abnormal oral cavity morphology, Depressed nasal ridge, Short stature, Short nose, Hypospadias, N... |
ORPHA:1355 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Prominent nasolabial fold, Pectus excavatum, Progeroid facial appearan... |
ORPHA:2962 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Bifid uvula, Submucous cleft hard palate, Atrial septal defect, Microcephaly, Pulmo... |
OMIM:619239 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Flexion contracture, Basal ganglia gliosis, Ventricular septal defect, Recurrent aspiration pneum... |
ORPHA:79243 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Micrognathia, Bifid nose, Abnormal vertebr... |
OMIM:239800 |
Ogden Syndrome |
|
Underdeveloped nasal alae, Enlarged naris, Everted upper lip vermilion, Ventricular septal defect... |
ORPHA:276432 |
Nablus Mask-Like Facial Syndrome |
|
Tapered finger, Wide nasal bridge, Camptodactyly, Everted lower lip vermilion, Short hallux, Shor... |
OMIM:608156 |
Meier-Gorlin Syndrome 5 |
|
Long philtrum, Birth length less than 3rd percentile, Short stature, Patellar aplasia, Micrognath... |
OMIM:613805 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp... |
OMIM:178110 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Bell-shaped thorax, Genu valgum, Thoracic hypoplasia, Ventricular septal defect, Short stature, S... |
OMIM:615630 |
Chime Syndrome |
|
Cerebral cortical atrophy, Microdontia, Skin ulcer, Hip dislocation, Osteolysis, Cleft palate, Sh... |
ORPHA:3474 |
Neu-Laxova Syndrome 1 |
|
Primary microcephaly, Toe syndactyly, Micrognathia, Camptodactyly, Lissencephaly, Bifid uterus, L... |
OMIM:256520 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Multiple joint contractures, Bifid uvula, Clinodactyly of t... |
ORPHA:264450 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Micrognathia, Supernumerary ribs, Submucous cleft hard palate, Joint hypermobility, Pectus excava... |
OMIM:619122 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Cleft palate,... |
OMIM:170390 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Camptodactyly, Trache... |
OMIM:601390 |
4Q21 Microdeletion Syndrome |
|
Short foot, Small hand, Kyphosis, Toe syndactyly, Cerebellar hypoplasia, Short philtrum, Downturn... |
ORPHA:238750 |
Lateral Meningocele Syndrome |
|
Micrognathia, Pectus excavatum, Short neck, Smooth philtrum, Cleft palate, Sclerosis of skull bas... |
OMIM:130720 |
Ramos-Arroyo Syndrome |
|
Choanal stenosis, Long philtrum, Primary microcephaly, Aganglionic megacolon, Abnormal autonomic ... |
ORPHA:1051 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Toe syndactyly, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Mungan Syndrome |
|
Barrett esophagus, Perimembranous ventricular septal defect, Megaduodenum, Abnormality of the aut... |
OMIM:611376 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Peho Syndrome |
|
Retrognathia, Tapered finger, Optic atrophy, Short nose, Progressive microcephaly, Pachygyria, Hy... |
OMIM:260565 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short philtrum, Sh... |
OMIM:601224 |
White Forelock With Malformations |
|
Prominent veins on trunk, Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:277740 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of the medullary cavity of the lon... |
ORPHA:93324 |
Burn-Mckeown Syndrome |
|
Wide nasal bridge, Short stature, Abnormal cardiac septum morphology, Short nose, Bilateral choan... |
ORPHA:1200 |
Woods Syndrome |
|
Ventricular septal defect, Wide nasal bridge, Optic atrophy, 3-4 finger cutaneous syndactyly, Sin... |
OMIM:615236 |
Cornelia De Lange Syndrome |
|
Cerebral cortical atrophy, Delayed eruption of teeth, Toe syndactyly, Micrognathia, Hypoplastic l... |
ORPHA:199 |
Sotos Syndrome |
|
Genu valgum, Narrow palate, Ventricular septal defect, Atrial septal defect, Cryptorchidism, Larg... |
OMIM:117550 |
Branchioskeletogenital Syndrome |
|
Bifid uvula, Pectus excavatum, Short neck, Amelia involving the lower limbs, Periorbital wrinkles... |
ORPHA:1299 |
Dysmorphism-Pectus Carinatum-Joint Laxity Syndrome |
|
Genu valgum, Convex nasal ridge, Depressed nasal ridge, Deep philtrum, Tented upper lip vermilion... |
ORPHA:2104 |
Dominant Beta-Thalassemia |
|
Genu valgum, Jaundice, Malar prominence, Hyperplasia of the maxilla, Dilated cardiomyopathy, Skin... |
ORPHA:231226 |
Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Irregular capital femoral epiphys... |
OMIM:231050 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucou... |
ORPHA:2521 |
Orofaciodigital Syndrome V |
|
Bifid tongue, Bifid uvula, Median cleft lip, Unilateral cryptorchidism, Postaxial hand polydactyl... |
OMIM:174300 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Genu valgum, Upper limb undergrowth, Metaphyseal dysplasia, Coxa vara, Capita... |
OMIM:271650 |
Craniolenticulosutural Dysplasia |
|
Wide nose, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Short stature, Micr... |
ORPHA:50814 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Trisomy 12P |
|
Short stature, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th finger, Anal atresia, Sho... |
ORPHA:1699 |
Triploidy |
|
Non-midline cleft lip, Ambiguous genitalia, Aplasia/Hypoplasia of the corpus callosum, Finger syn... |
ORPHA:3376 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Short ... |
OMIM:601355 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal stenosis, Short stature, Esophageal atresia, Bilateral cryptorchidism, Missing ribs, Clin... |
OMIM:619859 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Pallor, Hypertrophic cardiomyopathy, Growth delay, Respiratory insufficienc... |
OMIM:613561 |
Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Cerebral cortical atrophy, High palate, Short sta... |
ORPHA:1784 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, High palate, Long philtrum, Ventricular septal defect, Wide anterior fontan... |
ORPHA:457279 |
Mucopolysaccharidosis, Type Ix |
|
Hyperextensibility at wrists, Lumbar scoliosis, Finger joint hypermobility, Short stature, Bifid ... |
OMIM:601492 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Pectus excavatum, Abnormal columella morphology, Thin metacarpal cortices, Subcortical cerebral a... |
ORPHA:2463 |
Kury-Isidor Syndrome |
|
Sacral dimple, High palate, Long philtrum, Finger syndactyly, Widely spaced teeth, Ventricular se... |
OMIM:619762 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hip subluxation, Subvalvular aortic stenosis, Flexion contracture, Tapered finger, Cleft soft pal... |
OMIM:619503 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Micrognathia, Narrow pelvis bone, Short neck, Abnormal rib morphology, C... |
ORPHA:96061 |
Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E... |
ORPHA:59315 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Wide nose, High palate, Osteomyelitis, Bronchiectasis, Micrognathia, Spinal canal stenosis, Recur... |
OMIM:618282 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Optic atrophy, Short stature, Atrial septal defect, Pallor |
ORPHA:49827 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tapered finger, Recurrent aspiration pneumonia, Short neck, Smooth philtrum, Thin lower lip vermi... |
ORPHA:280633 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, High palate, Short stature, Hypogonadism, Micrognathia, Supernumerary ribs, Mitral... |
ORPHA:251066 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morphology, Macroce... |
ORPHA:83473 |
Chops Syndrome |
|
Patent foramen ovale, Aspiration pneumonia, Long philtrum, Short stature, Ventricular septal defe... |
OMIM:616368 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Tapered finger, Camptodactyly, Cleft palate, Rocker bottom foot, Shawl scrotum, Short nose, Narro... |
OMIM:601353 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Ventricular septal defect, Cavum septum pellucidum, Joint laxity, Cutis marmorata, S... |
OMIM:602501 |
Cantú Syndrome |
|
Coxa valga, Wide nasal bridge, Hypertrophic cardiomyopathy, Short hallux, Short neck, Ovoid verte... |
ORPHA:1517 |
Hereditary Bullous Dystrophy, Macular Type |
|
Tapered finger, Short stature, External genital hypoplasia, Decreased testicular size, Short fing... |
ORPHA:1867 |
Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Short lingual frenulum, Everted lower lip vermilion, Smoo... |
OMIM:601358 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Hypoplastic acetabulae, Delayed eruption of teeth, Flared iliac wing, Anteri... |
OMIM:253200 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ventricular septal defect, Ectopic anus, Anencephaly, Hypoplastic left hea... |
ORPHA:2476 |
Congenital Disorder Of Glycosylation, Type Il |
|
Global brain atrophy, Long philtrum, Wide mouth, Abnormal cardiac septum morphology, Pericardial ... |
OMIM:608776 |
16Q24.3 Microdeletion Syndrome |
|
High palate, Long philtrum, Wide mouth, Ventricular septal defect, Kyphosis, Micrognathia, Hip dy... |
ORPHA:261250 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Mandibular prognathia, Ventricular septal defect, Wide mouth, Thick lower l... |
OMIM:619103 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Retrognathia, Aplasia/Hypoplasia of the cerebellum, Microdontia, Macrocephaly, Hypoplasia of peni... |
ORPHA:1812 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Primary microcephaly, Cerebellar hypoplasia, Respiratory distress, Agenesis of corpus callosum, P... |
ORPHA:171703 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Short stature, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, ... |
OMIM:617412 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Short stature, Optic atrophy, Slender long bone, Macrocepha... |
ORPHA:1185 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Abnormal optic disc morphology, Tracheomalacia, Pectus exca... |
ORPHA:96121 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Short stature, Oligodontia, Atrial septal defect, Pectus excavatum, Th... |
OMIM:618330 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Wide nasal bridge, Micrognathia, Optic nerve hypoplasia, Smooth philtrum, Postnatal growth retard... |
OMIM:300749 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Recurrent shoulder dislocation, Hallux valgus, Pectus excavatum, Genu valgum, Left ventricular hy... |
ORPHA:230851 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Retrognathia, Enamel hypoplasia, Ventricular septal defect, Optic atrophy, Death in infancy, Abno... |
OMIM:614576 |
Sanjad-Sakati Syndrome |
|
Convex nasal ridge, Long philtrum, Short stature, Short foot, Small hand, Micrognathia, Patchy os... |
ORPHA:2323 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Short stature, Micrognathia, Supernumerary ribs, Respiratory distress,... |
OMIM:613309 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Knee flexion contracture, 2-3 toe syndactyly, Metaphyseal irregularity, High palate, Rhizomelia, ... |
OMIM:618162 |
Alagille Syndrome 1 |
|
Ventricular septal defect, Prolonged neonatal jaundice, Butterfly vertebral arch, Atrial septal d... |
OMIM:118450 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Hip subluxation, Short 4th metacarpal, Wide nasal bridge, Micrognathia, Shor... |
OMIM:615546 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Ventricular septal defect, Wide nasal bridge, Death in infancy, Narrow chest, Microg... |
OMIM:235255 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Tapered finger, Hallux valgus, Wide nasal bridge, Prominent nasolabial fold, Overlapping toe, Abn... |
ORPHA:480880 |
Marshall Syndrome |
|
Thick upper lip vermilion, Genu valgum, High palate, Long philtrum, Hypoplastic frontal sinuses, ... |
ORPHA:560 |
Familial Osteodysplasia, Anderson Type |
|
Aplasia/hypoplasia of the femur, Elbow dislocation, Abnormal zygomatic bone morphology, Abnormal ... |
ORPHA:2769 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Abnormal nostril morphology, Bifid scrotum, Abnormal metacarpal morphology, Hypoplas... |
ORPHA:1295 |
19P13.13 Microdeletion Syndrome |
|
Hypoplasia of the frontal lobes, High palate, Optic atrophy, Clinodactyly, Macrocephaly, Macroglo... |
ORPHA:357001 |
Autosomal Recessive Centronuclear Myopathy |
|
Retrognathia, Respiratory insufficiency, Hyperlordosis, High palate, Hip contracture, Bifid uvula... |
ORPHA:169186 |
Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Small hand, Bifid uvula, Downturn... |
OMIM:618779 |
Noonan Syndrome 4 |
|
Dental malocclusion, Abnormal sternum morphology, Ventricular septal defect, Short stature, Wide ... |
OMIM:610733 |
Goldberg-Shprintzen Syndrome |
|
Hypoplasia of the brainstem, Tapered finger, Small hand, Wide nasal bridge, Ventricular septal de... |
OMIM:609460 |
Stankiewicz-Isidor Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Absent thumb, Sacral dimple, Prominent nose, Truncus arteriosus... |
OMIM:617516 |
Frontometaphyseal Dysplasia |
|
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Short phalanx of finger, Wid... |
ORPHA:1826 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Rhizomelia, Absent nasal bridge, Relative macrocephaly, Abnormal respirato... |
ORPHA:171866 |
Fraser Syndrome 1 |
|
Abnormality of the anus, Midline nasal groove, Wide nasal bridge, Cleft palate, Abnormal cortical... |
OMIM:219000 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Spinal canal stenosis, Pectus excavatum, Anteriorly ... |
OMIM:618624 |
Lambert Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Wide mouth, Branchial anomaly, J... |
ORPHA:1296 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, High palate, Long philtrum, Macrocephaly, Short philtrum, Thin upp... |
OMIM:618929 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polydactyly, Wide nasal bridge, Micrognathia, Microdontia, Pectus excavatum, Eve... |
OMIM:613610 |
Mosaic Trisomy 20 |
|
Retrognathia, Vertebral fusion, Ventricular septal defect, Abnormal mitral valve morphology, Cran... |
ORPHA:1724 |
Sheldon-Hall Syndrome |
|
High palate, Short stature, Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Verteb... |
ORPHA:1147 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Temporomandibular joint ankylosis, Radial bowing, Ulnar devia... |
OMIM:164900 |
Genitopalatocardiac Syndrome |
|
Non-midline cleft lip, Gonadal dysgenesis, male, Wide nasal bridge, Abnormal cardiac septum morph... |
ORPHA:2075 |
Ohdo Syndrome, X-Linked |
|
Wide nasal bridge, Micrognathia, Microdontia, Overlapping toe, Smooth philtrum, Prominent nose, S... |
OMIM:300895 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect |
OMIM:618782 |
Peripheral Cone Dystrophy |
|
Optic disc pallor, Optic atrophy, Pallor |
OMIM:609021 |
Teebi-Shaltout Syndrome |
|
Wide nasal bridge, Camptodactyly, Metatarsus adductus, Pectus excavatum, Smooth philtrum, Cleft p... |
OMIM:272950 |
Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Aplasia/Hypoplasia of the tongue, Death in infancy, Bifid uvula, Atrial septal ... |
ORPHA:1790 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Flexion contracture, Tapered finger, Optic atrophy, Micrognathia, Camptodactyly, Pectus excavatum... |
OMIM:309590 |
Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Ventricular septal defect, Short thumb, Radioulnar ... |
ORPHA:2876 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Macrocephaly, Short nose, Epiphyseal dysplasia, Hypospadias, Depressed nasal bridge, Osteopenia, ... |
OMIM:614732 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent foramen ovale, Short stature, Delayed eruption of teeth, Micrognathia, Bifid uvula, Submuc... |
OMIM:300990 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Wide nasal bridge, Micrognathia, Elbow flexion contracture, Short neck, Smooth philtrum, Talipes ... |
ORPHA:371364 |
Sifrim-Hitz-Weiss Syndrome |
|
Ambiguous genitalia, Tapered finger, Short femoral neck, Short stature, Ventricular septal defect... |
OMIM:617159 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Flexion contracture, Facial telangiectasia, Short stature, Optic atrophy, Micrognathia... |
OMIM:615851 |
Double Outlet Right Ventricle |
|
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Short stature, Ventricular septal de... |
ORPHA:3426 |
Coffin-Siris Syndrome 4 |
|
Short 5th finger, Everted upper lip vermilion, Wide nasal bridge, Cleft palate, Thick nasal alae,... |
OMIM:614609 |
Li-Campeau Syndrome |
|
Patent foramen ovale, Patellar hypoplasia, Long philtrum, Short stature, Ventricular septal defec... |
OMIM:619189 |
Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Wide nasal bridge, Toe syndactyly, Hip dislocation, Broad ... |
ORPHA:2308 |
Trigonocephaly 1 |
|
Long philtrum, Wide nasal bridge, High, narrow palate, Long penis, Short nose, Meckel diverticulu... |
OMIM:190440 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure, Pallor |
ORPHA:46532 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Short stature, Abnormality of the humerus, Synostosis of carpal bones, V... |
ORPHA:1836 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Reduced cerebral white matter volume, Cerebral hypoplasia, Respiratory distress, Kyphoscoliosis, ... |
OMIM:617977 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Sacral dimpl... |
ORPHA:166108 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ambiguous genitalia, Ventricular septal defect, Death in infancy, Malabsorption, Micrognathia, Ag... |
ORPHA:452 |
Chitayat Syndrome |
|
Hallux valgus, Short stature, Respiratory distress, Pectus excavatum, Short columella, Depressed ... |
OMIM:617180 |
Auriculocondylar Syndrome |
|
Dental malocclusion, Difficulty in tongue movements, Mandibular condyle hypoplasia, Micrognathia,... |
ORPHA:137888 |
Distal Tetrasomy 15Q |
|
Retrognathia, Abnormal sternum morphology, Flexion contracture, High palate, Kyphosis, Micrognath... |
ORPHA:314588 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Micrognathia, Radial bowing, Cerebral calcification, Lower limb undergrowth, Intestinal malrotati... |
ORPHA:3035 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Global brain atrophy, Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid ... |
OMIM:620066 |
Rheumatic Fever |
|
Endocarditis, Respiratory insufficiency, Hemiballismus, Abnormal mitral valve morphology, Arthrit... |
ORPHA:3099 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Fibrous syngnathia, Non-midline cleft lip, Ambiguous genitalia, Lip pit, Finger syndactyly, Bifid... |
ORPHA:1300 |
Microform Holoprosencephaly |
|
Ambiguous genitalia, Short stature, Asthma, Short philtrum, Hypoplasia of penis, Choanal atresia,... |
ORPHA:280200 |
15Q14 Microdeletion Syndrome |
|
Convex nasal ridge, Long philtrum, Short stature, Ventricular septal defect, Kyphosis, Biparietal... |
ORPHA:261190 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Short stature, Bip... |
ORPHA:1770 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Long philtrum, Shawl scrotum, Bifid uvula, Depressed nasal bridge, Anteverted nares, Thin vermili... |
OMIM:615942 |
Beaulieu-Boycott-Innes Syndrome |
|
Dental malocclusion, Ventricular septal defect, Micrognathia, Velopharyngeal insufficiency, Micro... |
OMIM:613680 |
Vacterl/Vater Association |
|
Non-midline cleft lip, Ambiguous genitalia, Abnormal cardiac septum morphology, Abnormal rib morp... |
ORPHA:887 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Short stature, Ulnar deviation of finger, Abnormal pelvic girdle bone mo... |
ORPHA:2928 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Precocious puberty, Micrognathia, Microdontia, Postnatal growth retardation, Narrow mouth, Narrow... |
ORPHA:96182 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Prolonged neonatal jaundice, Primary microcephaly, Simplified gyral pattern, Clino... |
OMIM:618828 |
Trichorhinophalangeal Syndrome Type 2 |
|
Wide nasal bridge, Thick nasal alae, Genu valgum, Avascular necrosis of the capital femoral epiph... |
ORPHA:502 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Global brain atrophy, Ventricular septal defect, Wide na... |
OMIM:616920 |
Apert Syndrome |
|
Respiratory insufficiency, Convex nasal ridge, Ectopic anus, Delayed eruption of teeth, Toe synda... |
ORPHA:87 |
Shwachman-Diamond Syndrome 1 |
|
Irregular ossification at anterior rib ends, Metaphyseal sclerosis, Coxa vara, Short stature, Ant... |
OMIM:260400 |
Stickler Syndrome |
|
Micrognathia, Hip dislocation, Tooth agenesis, Cleft palate, Glossoptosis, Abnormal form of the v... |
ORPHA:828 |
Ring Chromosome 7 Syndrome |
|
Cerebral cortical atrophy, Short 5th finger, Wide nasal bridge, Bifid uvula, Slender finger, Clef... |
ORPHA:1449 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Joint laxity, Short nose, Thin upper lip vermilion, Scoliosis, Smooth philtr... |
OMIM:618218 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Ventricular sept... |
ORPHA:1926 |
Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... |
OMIM:252100 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Keipert Syndrome |
|
Short stature, Macrocephaly, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Short hal... |
ORPHA:2662 |
1Q44 Microdeletion Syndrome |
|
High palate, Short stature, Abnormal cardiac septum morphology, Micrognathia, Biparietal narrowin... |
ORPHA:238769 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Cerebral cortical atrophy, Hallux valgus, Wide nasal bridge, Truncus art... |
ORPHA:2008 |
Myopathy, Mitochondrial, And Ataxia |
|
Mandibular prognathia, High palate, Short stature, Micrognathia, Pectus excavatum, Pallor, Growth... |
OMIM:617675 |
Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Wide nasal bridge, Microdontia, Pectus excavatum, Everted lower lip ... |
OMIM:615873 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Foot oligodactyly, Ventricular septal defect, Bilateral cleft lip, Short femur, ... |
OMIM:601357 |
Craniolenticulosutural Dysplasia |
|
Wide nasal bridge, Delayed eruption of teeth, Optic atrophy, Bifid uvula, Smooth philtrum, Cleft ... |
OMIM:607812 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, M... |
ORPHA:2252 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Wide nasal bridge, Increased head circumference, Micrognathia, Bifid uvula, Pectus excavatum, Sho... |
ORPHA:247262 |
Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra... |
OMIM:102500 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Convex nasal ridge, Micrognathia, Bifid uvula, Abnormal optic disc morphology, Overlapping toe, B... |
ORPHA:293967 |
Dysplastic Cortical Hyperostosis |
|
Short stature, Increased bone mineral density, Abnormal cortical bone morphology, Limb undergrowt... |
ORPHA:2204 |
Ververi-Brady Syndrome |
|
Wide nose, Metaphyseal irregularity, High palate, Prominent nose, Wide mouth, Short stature, Clin... |
OMIM:617982 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Retrognathia, Neoplasm of the tongue, Atrioventricular canal defect, Pro... |
ORPHA:3047 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, High palate, Ventricular septal defect, Wide nasal bridge, Short statur... |
OMIM:619995 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Thick upper lip vermilion, Optic atrophy, Minimal subcutaneous fat, Micrognathia, Severe generali... |
OMIM:210730 |
Leukodystrophy, Hypomyelinating, 10 |
|
Cerebral cortical atrophy, Hypoplasia of the brainstem, Long philtrum, Reduced cerebral white mat... |
OMIM:616420 |
Beta-Thalassemia Major |
|
Genu valgum, Jaundice, Malar prominence, Hyperplasia of the maxilla, Dilated cardiomyopathy, Skin... |
ORPHA:231214 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia, Short nose, Hypospadias, Depressed nasal bridge, Microcephaly, C... |
OMIM:616910 |
Tricuspid Atresia |
|
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... |
ORPHA:1209 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Short stature, Microdontia, Abnormal metacarpal mor... |
ORPHA:1307 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Tracheobronchomalacia, Hypoplasia of the brainstem, Ventricular septal defect, Cerebellar hypopla... |
OMIM:617751 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septal defect, Overlapping toe,... |
OMIM:618974 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, High palate, Long philtrum, Micrognathia, Macrocephaly, Anal atresia, Hydrocele te... |
OMIM:614080 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Recurrent viral upper respiratory tract infections, Short philtrum, At... |
OMIM:616898 |
Developmental And Epileptic Encephalopathy 75 |
|
Cerebral cortical atrophy, Prolonged neonatal jaundice, Wide nasal bridge, Optic atrophy, Short p... |
OMIM:618437 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Recurrent fractures, Short stature, Delayed eruption of teeth, Kyphosis, Mic... |
ORPHA:2050 |
Noonan Syndrome 7 |
|
Short stature, Macrocephaly, Atrial septal defect, Joint hypermobility, Pectus excavatum, Hypertr... |
OMIM:613706 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sagittal craniosynostosis, Ventricular septal defect, Short stature, Natal tooth, Death in infanc... |
OMIM:616901 |
Toluene Embryopathy |
|
Tapered finger, Short stature, Micrognathia, Biparietal narrowing, Short nose, Microcephaly, Smoo... |
ORPHA:1920 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Abnormal mandible morphology, Osteolysis, Abnormal zygomatic bone morphology, T... |
ORPHA:249 |
Lambotte Syndrome |
|
Retrognathia, Convex nasal ridge, Ventricular septal defect, Preaxial foot polydactyly, Narrow mo... |
OMIM:245552 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Maternal Phenylketonuria |
|
Bifid distal phalanx of the thumb, Double outlet right ventricle, High palate, Long philtrum, Wid... |
ORPHA:2209 |
Ciliary Dyskinesia, Primary, 40 |
|
Atrioventricular canal defect, Congenitally corrected transposition of the great arteries, Unbala... |
OMIM:618300 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Macroglossia, Respiratory distress, Depressed nasal bridge, Absent o... |
ORPHA:226313 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Global brain atrophy, Precocious puberty, Restrictive cardiomyopathy, Wide nasal bridge, Microgna... |
ORPHA:369837 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Inspiratory stridor, Small hand, Short nose, Disproportionate short-limb short stature, Brachydac... |
OMIM:618618 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Ventricular septal defect, Volvulus, Congenital posterior urethral valv... |
ORPHA:2970 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Optic atrophy, Micrognathia, Hip dysplasia, Cerebellar vermis hypoplas... |
ORPHA:494344 |
Multiple Osteochondromas |
|
Coxa valga, Abnormal carpal morphology, Pneumothorax, Limb undergrowth, Intestinal obstruction, G... |
ORPHA:321 |
Shashi-Pena Syndrome |
|
Retrognathia, Cervical C2/C3 vertebral fusion, Reduced cerebral white matter volume, Short metaca... |
OMIM:617190 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Short thorax, Platyspondyly, Micromelia, Abnormal epiphysis morphology, Proportionate short statu... |
ORPHA:93283 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Narrow palate, Optic atrophy, Bifid scrotum, Respiratory distress, Anteriorly placed anus, Depres... |
ORPHA:1555 |
Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Patent foramen ovale, Wide nasal bridge, Bicuspid aortic valve, Clinodactyly... |
OMIM:619149 |
Lathosterolosis |
|
High palate, Long philtrum, Toe syndactyly, Micrognathia, Abnormal thoracic spine morphology, Bip... |
ORPHA:46059 |
Monosomy 9P |
|
Ambiguous genitalia, Micrognathia, Short neck, Postaxial hand polydactyly, Abnormal rib morpholog... |
ORPHA:261112 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Bacterial endocarditis, Ventricular septal defect, Perimembranou... |
ORPHA:99095 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
High palate, Long philtrum, Thin corpus callosum, Short philtrum, Short nose, Broad hallux, Depre... |
OMIM:614105 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Micrognathia, Hypoplasia of proximal radius, Glossoptosis, Patent foramen ovale,... |
ORPHA:444077 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, 2-3 toe syndactyly, Cleft upper lip, Ectodermal dysplasia, Ventricular septal defe... |
OMIM:106260 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Secondary microcephaly, Hypergonadotropic hypogonadism, Scoliosis, Periventric... |
OMIM:619737 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis, Hypertrophic cardiomyopathy, Respiratory distress |
ORPHA:91130 |
Ctcf-Related Neurodevelopmental Disorder |
|
2-3 toe syndactyly, Microdontia, Hypoplastic labia majora, Cleft palate, Sacral dimple, Atrial se... |
ORPHA:363611 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, Abnormality of dental... |
OMIM:257850 |
Eiken Syndrome |
|
Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti... |
OMIM:600002 |
8P23.1 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Long philtrum, Toe syndactyly, Tetralogy of Fallot, Pulmoni... |
ORPHA:251076 |
Mgat2-Cdg |
|
Convex nasal ridge, Ventricular septal defect, Kyphosis, Cerebellar hypoplasia, Respiratory distr... |
ORPHA:79329 |
Meier-Gorlin Syndrome 6 |
|
Underdeveloped nasal alae, Tracheobronchomalacia, Patellar aplasia, Depressed nasal ridge, Simpli... |
OMIM:616835 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Global brain atrophy, Cerebral cortical atrophy, Natal tooth, Volvulus, Micrognathia, Short nose,... |
OMIM:617802 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short stature, Abnormality of the elbow, Micrognathia, Slender long bone, Ab... |
ORPHA:1486 |
Down Syndrome |
|
Microdontia, Short neck, Prematurely aged appearance, Narrow palate, Macroglossia, Short nose, Na... |
ORPHA:870 |
Cerebellofaciodental Syndrome |
|
Dental malocclusion, Genu valgum, Tapered finger, Macrodontia of permanent maxillary central inci... |
OMIM:616202 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the nose, Optic atrophy, Septo-optic dysplasia, Micrognathia, Missin... |
ORPHA:3301 |
Distal Trisomy 6P |
|
Sacral dimple, Short stature, Micrognathia, Long thorax, Narrow mouth, Short neck, Dry skin, Thin... |
ORPHA:1745 |
Holoprosencephaly 13, X-Linked |
|
Vertebral clefting, Patent foramen ovale, Double outlet right ventricle, Aplasia of the nose, Ven... |
OMIM:301043 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Short stature, Broad tibial metaphyses, Hip dislocation, Flared radial metaphy... |
ORPHA:85170 |
Xylt1-Cdg |
|
Coxa valga, Long philtrum, Short stature, Short femoral neck, Short long bone, Clinodactyly, Rela... |
ORPHA:370930 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pneumonia, W... |
ORPHA:95430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myofiber disarray, Basal ganglia gliosis, High palate, Neuronal loss in basal ganglia, Death in i... |
OMIM:604377 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thin bony cortex, Bifid uvula, Pectus excavatum, Short neck, Smooth philtrum, Cleft palate, Long ... |
OMIM:309583 |
Bresek Syndrome |
|
Convex nasal ridge, Decreased testicular size, Aganglionic megacolon, Optic nerve hypoplasia, Gro... |
ORPHA:85284 |
Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Ambiguous genitalia, Precocious puberty, Hypoplasia of the f... |
OMIM:270400 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration, Rib fusion, Scoliosis, Hypoplasia of the corpus callosum, Hemivertebrae, Facial palsy |
OMIM:614688 |
Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Kyphosis, Delayed er... |
ORPHA:77301 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Dentinogenesis imperfecta, Protrusio acetabuli, Bowing of limbs ... |
OMIM:259420 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Cerebral cortical atrophy, High palate, Tapered finger, Wide nasal bri... |
OMIM:615803 |
Viss Syndrome |
|
Bifid tongue, Cleft soft palate, Pneumothorax, Micrognathia, Bifid uvula, Hip dislocation, Butter... |
OMIM:619472 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Sacral dimple, Finger syndactyly, Radioulnar sy... |
ORPHA:2633 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Optic disc pallor, Optic atrophy, Pallor |
OMIM:612989 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
2-3 toe syndactyly, Hypointensity of cerebral white matter on MRI, Wide mouth, Macrocephaly, Broa... |
OMIM:300860 |
Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Short stature, Micrognathia, Short nose, Spina bifida occulta, Narrow nasal br... |
ORPHA:1514 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Penile hypospadias, Abnormal bone ossification, Short 5th fing... |
ORPHA:73230 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Choanal stenosis, Ventricular septal defect, Short stature, Decreased testicular si... |
OMIM:147770 |
Geleophysic Dysplasia 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Long philtrum, Short stature, Short f... |
OMIM:614185 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
High palate, Long philtrum, Wide mouth, Deep philtrum, Short stature, Micrognathia, Shawl scrotum... |
ORPHA:1974 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micrognathia, Hypopla... |
ORPHA:2547 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, High palate, Ventricular septal defect, Micrognathia, Clinodactyly, Dilated cardi... |
OMIM:616730 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Volvulus, Decreased testicular size,... |
ORPHA:335 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Elbow flexion contracture, Contracture of the proximal interphalangeal joint of the 2nd finger, B... |
OMIM:612394 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Genu valgum, Long philtrum, Wide nasal bridge, Widely spaced teeth, Broad clavicle... |
OMIM:619698 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Wide nasal bridge, Microdontia, Elbow flexion contracture, Broad distal phalanx of the toes, Pect... |
OMIM:619194 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Micrognathia, Smooth philtrum, Furrowed tongue, Choanal atresia, Lumbar hyperlordo... |
OMIM:616975 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, High palate, Short stature, Short lingual frenulum, Thick lower lip vermili... |
ORPHA:293939 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Midgut malrotation, Double outlet right ventricle, Cyanosis, Total anosmia, Short stature, Short ... |
ORPHA:2326 |
Renpenning Syndrome 1 |
|
Wide nasal bridge, Micrognathia, Camptodactyly, Pectus excavatum, Synostosis of the proximal phal... |
OMIM:309500 |
Optic Atrophy 1 |
|
Optic atrophy, Pallor |
OMIM:165500 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Cutaneous photosensitivity, High palate, Abnormal tongue physiology, Wide mouth, Hypospadias, Nar... |
ORPHA:544254 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, High palate, Ventricular septal defect, Kyphosis, Micrognathia, Craniofacial hyper... |
ORPHA:2789 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Enamel hypoplasia, Macroorchidism, High palate, Short stature, Ankyloglossia, Mitral valve prolap... |
OMIM:618874 |
Primary Lateral Sclerosis, Juvenile |
|
Difficulty in tongue movements, Decreased compound muscle action potential amplitude, Cerebral co... |
OMIM:606353 |
Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Coxa valga, Optic atrophy, Hypoplastic vertebral bodies, Protruding tongue, Nar... |
OMIM:230600 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypop... |
ORPHA:453504 |
Orofacial Cleft 13 |
|
Retrognathia, Cleft soft palate, Micrognathia, Oligodontia, Malar flattening |
OMIM:613857 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bifid tongue, Wide nasal bridge, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypop... |
ORPHA:352665 |
Opitz Gbbb Syndrome |
|
Ectopic anus, Wide nasal bridge, Recurrent aspiration pneumonia, Micrognathia, Abnormal corpus ca... |
ORPHA:2745 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Tongue fasciculations, Respiratory insufficiency, Respiratory distress, Abnormal corpus striatum ... |
ORPHA:238329 |
Warsaw Breakage Syndrome |
|
Optic disc coloboma, 2-3 toe syndactyly, High palate, Ventricular septal defect, Wide mouth, Clin... |
OMIM:613398 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Underdeveloped nasal alae, High palate, Kyphosis, Micrognathia, Short nose, Low insertion of colu... |
OMIM:619005 |
Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Coronal craniosynostosis, Micrognathia, Atrial septal defect, Hypoplasia of the... |
OMIM:241310 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, High palate, Ventricular septal defect, Narrow chest, Microgn... |
ORPHA:1655 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short stature, Short ribs, Death in infancy, Narrow chest, Postaxial foot polyda... |
OMIM:617405 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, High palate, Respiratory distress, Pectus excavatum, Congenital hip dislocat... |
OMIM:271225 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Tapered finger, Hallux valgus, Decreased scrotal rugation, Short lower limbs, Tali... |
ORPHA:261311 |
Joubert Syndrome 14 |
|
Hypoplasia of the brainstem, Agenesis of cerebellar vermis, Ventricular septal defect, Optic atro... |
OMIM:614424 |
16P11.2P12.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Short stature, Absent nasal bridge, Toe syndactyly, Bulbous nose, Micror... |
ORPHA:261211 |
Hereditary Methemoglobinemia |
|
Cyanosis, Global brain atrophy, Exertional dyspnea, Lip discoloration, Small basal ganglia, Micro... |
ORPHA:621 |
Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Postaxial hand polydactyly, Cleft palate, Postnatal growth retardation, N... |
OMIM:605627 |
Takenouchi-Kosaki Syndrome |
|
Cerebral cortical atrophy, Tapered finger, Wide nasal bridge, Abnormal cardiac septum morphology,... |
OMIM:616737 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Tapered finger, Wide nasal bridge, Micrognathia, Taurodontia, Short neck,... |
ORPHA:444072 |
Craniotubular Dysplasia, Ikegawa Type |
|
Thick upper lip vermilion, Thin bony cortex, Wide nasal bridge, Optic atrophy, Short palm, Sclero... |
OMIM:619727 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Long philtrum, Short stature, Microretrognathia, Short nose, Abnormal palate morphology, Postaxia... |
ORPHA:1389 |
Aymé-Gripp Syndrome |
|
Cerebral cortical atrophy, Tapered finger, Pericardial effusion, Abnormal thorax morphology, Camp... |
ORPHA:1272 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate, Clinodactyly... |
OMIM:619314 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Optic atrophy, Lumbar kyphosis, Hypertrophic cardiomyopathy, Airway obstruct... |
ORPHA:505248 |
Hyperparathyroidism, Transient Neonatal |
|
Short nasal bridge, Recurrent fractures, Wide nasal bridge, Short ribs, Short long bone, Undulate... |
OMIM:618188 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Convex nasal ridge, Wide nasal bridge, Malabsorption, Micrognathia, T... |
ORPHA:99812 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Dispropo... |
ORPHA:93315 |
Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Long philtrum, Finger syndactyly, Shawl scrotum, Wide nasal bridge, Advanced eruption ... |
ORPHA:1519 |
Jansen-De Vries Syndrome |
|
Hyperlordosis, Small hand, Short stature, Wide mouth, Ventricular septal defect, Bicuspid aortic ... |
OMIM:617450 |
Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Delayed eruption of teeth, Micrognathia, Microdontia, Short palm, Tali... |
OMIM:268400 |
Megalencephaly |
|
Macroorchidism, Genu valgum, Wide nasal bridge, Macrocephaly, Atrial septal defect, Long penis, S... |
ORPHA:2477 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, Asthma, Pulmonic ... |
OMIM:614262 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Prominent nose, Long philtrum, Short stature, ... |
ORPHA:1292 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short 5th finger, Tapered finger, Wide nasal bridge, Urethral stricture, Imperforate hymen, Ventr... |
OMIM:619522 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Kyphosis, Macroglossia, Short nose, Everted lower lip vermilion, Depressed... |
ORPHA:261144 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Micrognathia, Camptodactyly, Smooth philtrum, Slender finger, Bilateral talipes equinovarus, Tali... |
OMIM:618343 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Acroosteolysis of distal phalanges (feet), Short stature, Abnormal fingertip ... |
ORPHA:90154 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent foramen ovale, Truncus arteriosus, Ventricular septal defect, Colon perforation, Perimembr... |
OMIM:600001 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ambiguous genitalia, Ventricular septal defect, Short stature, Short ribs, Short long bone, Thora... |
OMIM:615503 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Progressive microcephaly, Central apnea |
ORPHA:71277 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Triceps weakness, Lumbar hyperlordosis, Spinal rigidity, Left ventricular hypertrophy, Respirator... |
ORPHA:86812 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short stature, Synostosis of carpal bones, Abnormal morphology ... |
ORPHA:2639 |
Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Non-midline cleft lip, Abnormal sternum morphology, Ventricular ... |
ORPHA:1335 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Mandibular prognathia, Tapered finger, Wide nasal bridge, Aganglionic megacolon, M... |
OMIM:613603 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Hand polydactyly, Atrial septal d... |
ORPHA:261243 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Respiratory insufficiency, Gingival overgrowth, Macroglossia, Small basal ganglia, Hypoplasia of ... |
OMIM:616900 |
Immunodeficiency 43 |
|
Radial bowing, Bronchiectasis, Hypoplasia of the ulna |
OMIM:241600 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Skin ulcer, Short neck, Short palm, Gingival overgrowth, Urticaria, Incr... |
ORPHA:2176 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short ribs, Anencephaly, Cerebellar vermis hypoplasia, Atrial septal defect, D... |
OMIM:616546 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Respiratory failure, Respiratory distress, Recurrent upper respiratory tract infections... |
OMIM:263000 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Flexion contracture, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-... |
OMIM:300166 |
Au-Kline Syndrome |
|
Bifid tongue, Coxa valga, Bifid uvula, Pectus excavatum, Overlapping toe, Cleft palate, Deep palm... |
OMIM:616580 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Telangiectasia, Narrow palate, Long philtrum, Short stature, Abnormal large intestine ... |
ORPHA:109 |
Prolidase Deficiency |
|
High palate, Prolonged neonatal jaundice, Petechiae, Asthma, Micrognathia, Skin ulcer, Short nose... |
OMIM:170100 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Micrognathia, Hypoplastic labia majora, Pectus excavatum, Short neck, Con... |
OMIM:261540 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Osteolysis, Papilledema, Abnormal form of the vertebral bodies, Increased su... |
ORPHA:371428 |
Frontometaphyseal Dysplasia 2 |
|
Wide nasal bridge, Bifid uvula, Camptodactyly, Elbow contracture, Pectus excavatum, Dislocated ra... |
OMIM:617137 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Finger syndactyly, Wide nasal bridge, Delayed eruption of t... |
ORPHA:1071 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Genu valgum, Anterior rib cupping, Short tubular bones of the hand, Coxa vara, Short long bone, S... |
OMIM:184253 |
Noonan Syndrome 3 |
|
Sagittal craniosynostosis, Patent foramen ovale, High palate, Ventricular septal defect, Short st... |
OMIM:609942 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteolytic defects of the phalanges of the hand, Flexion contracture, Micrognathia, Palmoplantar ... |
OMIM:619127 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Hyposmia, Hypogonadism, External genital hypoplasia, Atrial septal def... |
OMIM:615996 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap |
OMIM:216300 |
Pfeiffer Syndrome Type 3 |
|
Hallux varus, High palate, Small hand, Finger syndactyly, Toe syndactyly, Anal atresia, Limitatio... |
ORPHA:93260 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pneumothorax, Pectus excavatum, Fragile skin, Cleft palate, Arthrogryposis multiplex congenita, T... |
OMIM:601776 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Porencephalic cyst, Microcephaly, Atrial septal defect |
ORPHA:254351 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Retrognathia, Short stature, Micrognathia, Slender long bone, Decreased calvarial ossification, B... |
OMIM:618265 |
Chromosome 15Q25 Deletion Syndrome |
|
Cleft upper lip, Ventricular septal defect, Short stature, Abnormal cardiac septum morphology, Co... |
OMIM:614294 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Underdeveloped nasal alae, Short stature, Wide nasal bridge, Micrognathi... |
ORPHA:1794 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Tapered finger, Long philtrum, Short stature, Craniofacial asymmetry, Wide... |
OMIM:601088 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Bell-shaped thorax, Short metacarpal, Trapezoidal vertebral body, Thin c... |
OMIM:600092 |
Fumarase Deficiency |
|
Hypoplasia of the brainstem, High palate, Optic atrophy, Reduced subcutaneous adipose tissue, Ope... |
OMIM:606812 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Bell-shaped thorax, Optic atrophy, Erlenmeyer flask deformity of the femurs, Kyphosis, Hyperinten... |
OMIM:618476 |
Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Congenital posterior urethral valve, Microdo... |
OMIM:136140 |
12Q14 Microdeletion Syndrome |
|
Wide nose, Abnormal nostril morphology, Short stature, Hypodontia, Micrognathia, Clinodactyly of ... |
ORPHA:94063 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Short stature, Thin upper lip vermilion, Depressed nasal bridge, Broad n... |
OMIM:232400 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Bifid tongue, Aplasia/Hypoplasia of the corpus callosum, Abnorm... |
ORPHA:2167 |
Cole-Carpenter Syndrome 2 |
|
Dentinogenesis imperfecta, High palate, Recurrent fractures, Short stature, Kyphosis, Coronal cra... |
OMIM:616294 |
Peters Plus Syndrome |
|
Cerebral cortical atrophy, Abnormal cardiac septum morphology, Optic atrophy, Toe syndactyly, Mic... |
ORPHA:709 |
Kohlschutter-Tonz Syndrome-Like |
|
2-3 toe syndactyly, Global brain atrophy, Delayed eruption of teeth, Smooth philtrum, Amelogenesi... |
OMIM:619229 |
17Q11.2 Microduplication Syndrome |
|
Enamel hypoplasia, Macroorchidism, Short stature, Bifid nose, Thin vermilion border, Microcephaly... |
ORPHA:139474 |
Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Horizontal ribs, Bell-shaped thorax, Pulmonary arterial hypertension, Micrognathia, Atrial septal... |
OMIM:614857 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Macrocephaly, Abnormal pelvic girdle bone morphology, Abnormal palate morpholo... |
ORPHA:1506 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Distal Monosomy 6P |
|
Underdeveloped nasal alae, Wide nose, Short foot, Micrognathia, Vertebral segmentation defect, Sh... |
ORPHA:96125 |
3Mc Syndrome 1 |
|
Short 5th finger, Spina bifida occulta, Cleft palate, Lambdoidal craniosynostosis, Postnatal grow... |
OMIM:257920 |
Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Micrognathia, Microdontia, Clinodactyly of the 5th toe, Cl... |
ORPHA:221120 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short stature, Wide mouth, Atrial septal defect, Pectus excavatum, Hyp... |
OMIM:615279 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Patent foramen ovale, Long philtrum, Short stature, Wide nasal bridge, Prominent nasal bridge, Si... |
OMIM:619179 |
Spondylo-Ocular Syndrome |
|
Long philtrum, Short stature, Ventricular septal defect, Thoracic kyphosis, Abnormal intervertebr... |
ORPHA:85194 |
Wrinkly Skin Syndrome |
|
Palmoplantar cutis laxa, Wide nasal bridge, Delayed eruption of teeth, Microdontia, Pectus excava... |
OMIM:278250 |
Rabson-Mendenhall Syndrome |
|
Polydactyly, Precocious puberty, Premature graying of hair, Reduced subcutaneous adipose tissue, ... |
ORPHA:769 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Short stature, Wide nasal bridge, Abnormal mitral valve morphology... |
ORPHA:500 |
Yuan-Harel-Lupski Syndrome |
|
Wide nose, Double outlet right ventricle, High palate, Long philtrum, Ventricular septal defect, ... |
OMIM:616652 |
Developmental And Epileptic Encephalopathy 80 |
|
Triphalangeal thumb, High palate, Long philtrum, Wide mouth, Tapered finger, Wide nasal bridge, M... |
OMIM:618580 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Flexion contracture, Thoracic hypoplasia, Cerebral cortical atrophy, Increased head circumference... |
OMIM:300868 |
Image Syndrome |
|
Hypogonadism, Hypospadias, Depressed nasal bridge, Cryptorchidism, Micromelia, Metaphyseal dyspla... |
ORPHA:85173 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Depressed nasal ridge, Kyphosis, Death in infancy, Abnormal heart valve morpholog... |
OMIM:230500 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Wrist flexion contracture, Flexion contracture, Thoracic hypoplasia, Camptodactyly, Redundant nec... |
ORPHA:254528 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
2-3 toe syndactyly, Tapered finger, Long philtrum, Generalized joint laxity, Clinodactyly of the ... |
ORPHA:589905 |
Native American Myopathy |
|
Respiratory insufficiency, Abnormality of the curvature of the vertebral column, High palate, Sho... |
ORPHA:168572 |
Wiedemann-Steiner Syndrome |
|
Sacral dimple, High palate, Long philtrum, Rhizomelia, Short stature, Tapered finger, Wide nasal ... |
ORPHA:319182 |
Campomelia, Cumming Type |
|
Death in infancy, Prematurely aged appearance, Abnormal thorax morphology, Clubbing of toes, Brac... |
ORPHA:1318 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Short philtrum, Frontal cortical atrophy, Short nose, Optic nerve hypoplasia, Ant... |
ORPHA:228384 |
Coffin-Siris Syndrome 12 |
|
Hip subluxation, Micrognathia, Prominent nasal tip, Pectus excavatum, Celiac disease, Slender fin... |
OMIM:619325 |
Chondrodysplasia-Disorder Of Sex Development Syndrome |
|
Short phalanx of finger, Short metacarpal, Cerebral hypoplasia, Abnormal pelvic girdle bone morph... |
ORPHA:1422 |
Alg12-Cdg |
|
Micrognathia, Camptodactyly, Biventricular hypertrophy, Talipes equinovarus, Patent foramen ovale... |
ORPHA:79324 |
Peho Syndrome |
|
Flexion contracture, Tapered finger, Cerebral cortical atrophy, Optic atrophy, Porencephalic cyst... |
ORPHA:2836 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Cerebellar hypoplasia, Bicuspid aortic valve,... |
ORPHA:284169 |
Gapo Syndrome |
|
Bell-shaped thorax, Eruption failure, Long philtrum, Optic atrophy, Wide anterior fontanel, Thick... |
OMIM:230740 |
Distal 22Q11.2 Microduplication Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Micrognathia, Biparietal narrowing, Smoo... |
ORPHA:261337 |
Tatton-Brown-Rahman Syndrome |
|
Encephalomalacia, Sagittal craniosynostosis, Everted upper lip vermilion, Deep philtrum, Ventricu... |
OMIM:615879 |
Stevenson-Carey Syndrome |
|
Underdeveloped nasal alae, Pierre-Robin sequence, Joint contracture of the hand, Cerebellar hypop... |
OMIM:611961 |
Hypophosphatasia |
|
Respiratory insufficiency, Recurrent fractures, Short stature, Craniosynostosis, Narrow chest, Em... |
ORPHA:436 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Flexion contracture, Complete duplication of thumb phalanx, Ventricular septal defe... |
OMIM:227645 |
Lathosterolosis |
|
Thick upper lip vermilion, Wide nasal bridge, Toe syndactyly, Micrognathia, Butterfly vertebrae, ... |
OMIM:607330 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Camptodactyly, Short proximal phalanx of the 2nd finger, Smooth philtrum, Postnatal growth retard... |
ORPHA:261323 |
Cyclic Vomiting Syndrome |
|
Pallor, Microcephaly, Growth delay, Cardiomyopathy |
OMIM:500007 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Microdontia, Syndactyly, Depressed nasal bridge,... |
OMIM:601005 |
Weiss-Kruszka Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Agenesis of corpus callosum, Clinodactyly of th... |
OMIM:618619 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Short philtrum, Camptodactyly, Joint laxity, Atrial se... |
OMIM:301039 |
Tatton-Brown-Rahman Syndrome |
|
Short toe, Mandibular prognathia, Deep philtrum, Macrocephaly, Atrial septal defect, Joint hyperm... |
ORPHA:404443 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Wide anterior fontanel, Short stature, Agenesis of cerebellar vermis, Short nose, Th... |
OMIM:601853 |
Silver-Russell Syndrome |
|
Precocious puberty, Abnormality of the calcaneus, Micrognathia, Upper limb asymmetry, Postnatal g... |
ORPHA:813 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Patent foramen ovale, Reduced cerebral white matter volume, Long philtrum, Wide mouth, Thick lowe... |
OMIM:620075 |
Charge Syndrome |
|
Respiratory insufficiency, Abnormal cardiac septum morphology, Delayed eruption of teeth, Optic a... |
ORPHA:138 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Respiratory insufficiency, Tapered finger, Micrognathia, Microdontia, Smooth philtrum, Depressed ... |
OMIM:620005 |
Axial Mesodermal Dysplasia Spectrum |
|
Cerebral cortical atrophy, Short stature, Micrognathia, Vertebral segmentation defect, Missing ri... |
ORPHA:1834 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Shoulder dislocation, Hallux valgus, Pericardial effusion, Micrognathia, Hip dislocation, Elbow d... |
ORPHA:536532 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, High palate, Short nose, Depressed nasal bridge, Recurrent upper respiratory tract ... |
OMIM:614069 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Underdeveloped nasal alae, Cerebral cortical atrophy, Hallux valgus, Short stature, Short metacar... |
ORPHA:166035 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Patent foramen ovale, Hypoxemia, Atrial septal defect, Clubbing, Muscular ventricular s... |
ORPHA:439 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Mandibular prognathia, Dental crowding, Joint hypermobility, Short nose, Tented u... |
OMIM:300143 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Thin corpus callosum, Atrial septal defect, Hypoplasia of the pons, Mi... |
OMIM:614249 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Retrognathia, Respiratory insufficiency, Penile hypospadias, High palate, Bifid scrotum, Joint hy... |
ORPHA:456328 |
Duane Retraction Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Wide nasal bridg... |
ORPHA:233 |
3Q29 Microduplication Syndrome |
|
High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Toe syndactyly, Wide nasal b... |
ORPHA:251038 |
Spondyloenchondrodysplasia |
|
Dental malocclusion, Metaphyseal dysplasia, Abnormal periventricular white matter morphology, Hyp... |
ORPHA:1855 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Atrial septal defect, Long toe, Slender f... |
OMIM:613355 |
Meckel Syndrome, Type 4 |
|
Agenesis of cerebellar vermis, Ventricular septal defect, Anencephaly, Atrial septal defect, Micr... |
OMIM:611134 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Cyanosis, Chylopericardium, Respiratory distress, Chronic pulmon... |
ORPHA:2414 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Underdeveloped nasal alae, Ventricular septal defect, Short metacarpal, Short stature, Micrognath... |
OMIM:250410 |
2Q23.1 Microdeletion Syndrome |
|
Short stature, Hip dysplasia, Hypoplasia of penis, Clinodactyly of the 5th finger, Everted lower ... |
ORPHA:228402 |
2Q37 Microdeletion Syndrome |
|
Toe syndactyly, Tracheomalacia, Broad columella, Short neck, Short palm, Microcephaly, Bilateral ... |
ORPHA:1001 |
Donnai-Barrow Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Wide anterior fontanel, Bic... |
ORPHA:2143 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, High palate, Paradoxical respiration, Respira... |
OMIM:620011 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Respiratory distr... |
ORPHA:438216 |
Opitz Gbbb Syndrome |
|
Wide nasal bridge, Congenital posterior urethral valve, Smooth philtrum, Cleft palate, Ventricula... |
OMIM:300000 |
Jaberi-Elahi Syndrome |
|
Hand clenching, Optic atrophy, Kyphosis, Dandy-Walker malformation, Short nose, Joint hypermobili... |
OMIM:617988 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Short foot, Birth length less than 3rd percentile, Calvarial osteosclerosis, Shor... |
OMIM:244460 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hypoplasia of the frontal lobes, Wide nasal bridge, Overlapping toe, Limb undergrowth, Gingival o... |
ORPHA:99843 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Wide nasal bridge, Redundant neck skin, Short neck, Thin vermilion border, Optic disc coloboma, S... |
OMIM:617157 |
Dermatitis, Atopic |
|
Facial erythema, Allergic rhinitis, Asthma, Pallor, Dry skin |
OMIM:603165 |
Say-Barber-Miller Syndrome |
|
Convex nasal ridge, Ulnar deviation of the hand or of fingers of the hand, Optic atrophy, Microgn... |
ORPHA:3132 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Cerebral cortical atrophy, Wide nasal bridge, Micrognathia, Lissencephaly, Short neck, Depressed ... |
ORPHA:2995 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Flexion contracture, Convex nasal ridge, Hallux valgus, Wide nasal bridge, Delayed eruption of te... |
ORPHA:261537 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Abnormal palmar dermatoglyphics, Widely spaced teeth, Microdontia, Atrial septal d... |
ORPHA:2728 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small hand, Hypogonadism, Short stature, Decreased testicular size, Cryptorchidism, Thin vermilio... |
OMIM:300869 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Widely-spaced incisors, Ventricular septal defect, Wide mouth, Joint laxity, Scoliosis, Microceph... |
OMIM:617635 |
Keutel Syndrome |
|
Underdeveloped nasal alae, Wide nose, Pulmonary arterial hypertension, Ventricular septal defect,... |
ORPHA:85202 |
Dravet Syndrome |
|
Global brain atrophy, Cyanotic episode, Tibial torsion, Pallor, Limited knee extension |
ORPHA:33069 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Dyspnea, Pallor |
ORPHA:228312 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Long philtrum, Short nose, Abnormal pattern of respiration, Microcephaly, Thick vermilion border |
ORPHA:833 |
8p23.1 deletion syndrome |
|
Atrioventricular canal defect, Abnormal heart morphology, Atrial septal defect, Cryptorchidism |
DECIPHER:39 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... |
OMIM:602111 |
Sclerosteosis 1 |
|
Dental malocclusion, Deviation of finger, Mandibular prognathia, Facial palsy secondary to crania... |
OMIM:269500 |
Loeys-Dietz Syndrome 4 |
|
Retrognathia, Protrusio acetabuli, Abnormal sternum morphology, Striae distensae, High palate, Pn... |
OMIM:614816 |
Mckusick-Kaufman Syndrome |
|
Ectopic anus, Hydrometrocolpos, Urethral stricture, Postaxial hand polydactyly, Cleft palate, Ven... |
ORPHA:2473 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... |
ORPHA:2092 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Bifid uvula, Optic nerve hypoplasia, Pectus excavatum, Short neck, Smooth philtrum, Patent forame... |
OMIM:617506 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... |
OMIM:618652 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Ambiguous genitalia, Mandibular aplasia, Abnormality of the anus, Abnormal testis morphology, Wid... |
ORPHA:2556 |
Faciocardiomelic Syndrome |
|
Thin bony cortex, Dental malocclusion, Polydactyly, Long philtrum, Wide mouth, Micrognathia, Slen... |
OMIM:612731 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Optic atrophy, Micrognathia, Dislocated radial head, Bilateral talipes equinovarus, Arthrogryposi... |
OMIM:619512 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Absent thumb, Short stature, Microphallus, Hypoplasia of the radius, 2-3 finger sy... |
OMIM:603467 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology, Atrial septal defect, Tracheoes... |
ORPHA:261272 |
Familial Focal Epilepsy With Variable Foci |
|
Hemimegalencephaly, Flushing, Pallor, Focal cortical dysplasia, Polymicrogyria |
ORPHA:98820 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Multiple joint contractures, Micrognathia, Microcolon, Scaling skin, Art... |
ORPHA:1662 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Recurrent fractures, Wide nasal bridge, Micrognathi... |
OMIM:617952 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Respiratory insufficiency, Short long bone, Thoracic dysplas... |
OMIM:615633 |
Craniosynostosis 2 |
|
Triphalangeal thumb, Cleft soft palate, Supernumerary tooth, Brachydactyly, Unicoronal synostosis... |
OMIM:604757 |
Osteogenesis Imperfecta, Type Xx |
|
Retrognathia, Mandibular prognathia, Narrow palate, High palate, Vertebral compression fracture, ... |
OMIM:618644 |
Incontinentia Pigmenti |
|
Conical tooth, Short stature, Delayed eruption of teeth, Optic atrophy, Hypodontia, Oligodontia, ... |
OMIM:308300 |
Distal Monosomy 9P |
|
Enlarged thorax, Wide nasal bridge, Hypoplastic labia majora, Short nose, Hypospadias, Short neck... |
ORPHA:1642 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Dentinogenesis imperfecta, Epiphyseal streaking, Clinodact... |
OMIM:604922 |
Pseudo-Torch Syndrome 1 |
|
Patent foramen ovale, High palate, Long philtrum, Petechiae, Cerebellar hypoplasia, Jaundice, Cer... |
OMIM:251290 |
Apnea, Central Sleep |
|
Irregular respiration, Cyanosis, Sleep apnea, Abnormal pattern of respiration |
OMIM:207720 |
Laron Syndrome |
|
Severe short stature, Short long bone, Limb undergrowth, Delayed menarche |
OMIM:262500 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Cerebellar hypoplasia, Macrocephaly, Microretrognathia, Intestinal... |
ORPHA:276413 |
Ollier Disease |
|
Precocious puberty, Skin ulcer, Osteolysis, Platyspondyly, Micromelia, Abnormal metaphysis morpho... |
ORPHA:296 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Thin upper lip vermilion, Progressive microcephaly, Long philtrum, Respiratory distress |
OMIM:614741 |
Fanconi Anemia, Complementation Group B |
|
Absent thumb, Ventricular septal defect, Hypogonadism, Esophageal atresia, Bilateral radial aplas... |
OMIM:300514 |
Noonan Syndrome 1 |
|
Micrognathia, Hypertrophic cardiomyopathy, Radial deviation of finger, Short neck, Cleft palate, ... |
OMIM:163950 |
Trichothiodystrophy |
|
Cerebral cortical atrophy, Multiple joint contractures, Hypoplasia of mandible relative to maxill... |
ORPHA:33364 |
Holoprosencephaly |
|
Respiratory insufficiency, Optic atrophy, Median cleft lip, Short neck, Tooth agenesis, Depressed... |
ORPHA:2162 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Respiratory insufficiency, Ventricular septal defect, Cerebellar hypoplasia, Hypoplastic left hea... |
OMIM:616276 |
Ivic Syndrome |
|
Triphalangeal thumb, Preaxial hand polydactyly, Aplastic clavicle, Hypoplasia of the radius, Shor... |
ORPHA:2307 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Tapered finger, Micrognathia, Pectus excavatum, Smooth philtrum, Slender finger, Patent foramen o... |
OMIM:619841 |
Noonan Syndrome 8 |
|
Abnormal sternum morphology, Palmoplantar cutis laxa, Ventricular septal defect, Short stature, R... |
OMIM:615355 |
Geleophysic Dysplasia 3 |
|
Long philtrum, Limited elbow movement, Short stature, Wide nasal bridge, Epiphyseal dysplasia, De... |
OMIM:617809 |
Limb Body Wall Complex |
|
Thoracic hypoplasia, Wide nasal bridge, Abnormal thorax morphology, Broad hallux, Spina bifida oc... |
ORPHA:2369 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Respiratory distress |
OMIM:613642 |
Trichohepatoneurodevelopmental Syndrome |
|
Microdontia, Hip dislocation, Pectus excavatum, Overlapping toe, Fibular bowing, Talipes equinova... |
OMIM:618268 |
American Trypanosomiasis |
|
Aganglionic megacolon, Pallor, Cough, Dyspnea, Myocarditis, Cardiomyopathy |
ORPHA:3386 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Flexion contracture, Coxa valga, Wide nasal bridge, Micrognathia, Bifid uvula, Dislocated radial ... |
OMIM:130070 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Cerebral cortical atrophy, Ventricular septal defect, Optic atrophy, Short nose, Pa... |
OMIM:234050 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Long philtrum, Short stature, Optic atrophy, Cutis laxa, Brachydactyly, Broad hallux, Syndactyly,... |
OMIM:614800 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the g... |
ORPHA:860 |
Seckel Syndrome 9 |
|
Ambiguous genitalia, Convex nasal ridge, Ventricular septal defect, Short stature, Asthma, Microg... |
OMIM:616777 |
Pyknoachondrogenesis |
|
Horizontal ribs, Enlarged thorax, Short thorax, Unossified sacrum, Depressed nasal ridge, Increas... |
ORPHA:3003 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tapered finger, Macrocephaly, Clinodactyly of the 5th finger, Bulbous nose, Short nose, Thin uppe... |
OMIM:618430 |
Okamoto Syndrome |
|
Polydactyly, Wide nasal bridge, Exaggerated median tongue furrow, Redundant neck skin, Bifid uter... |
ORPHA:2729 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Rhizomelic arm shortening, Iliac crest serration, Myocarditis, Respiratory insufficiency, Short m... |
ORPHA:93317 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Respiratory insufficiency, 2-3 toe syndactyly, Short 5th finger, Cleft palate, Rocker bottom foot... |
ORPHA:163979 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect, Death in infancy, Dandy-Walker malformation, Slen... |
OMIM:147800 |
Moebius Syndrome |
|
Micrognathia, Microdontia, Everted lower lip vermilion, Tooth agenesis, Cleft palate, Absent hand... |
ORPHA:570 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Short palm, Lumbar hyperlordosis, Genu valgum, Metaphyseal irregularity, Shor... |
OMIM:250420 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Flexion contracture, Precocious puberty, External genital hypoplasia, Hip dysplasia, Central slee... |
ORPHA:398069 |
Mowat-Wilson Syndrome |
|
Flexion contracture, Tapered finger, Hallux valgus, Wide nasal bridge, Delayed eruption of teeth,... |
ORPHA:2152 |
Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Dyspnea, Pallor |
ORPHA:517 |
Aspergillosis |
|
Abnormality of the vertebral column, Abnormal long bone morphology, Osteomyelitis, Bronchiectasis... |
ORPHA:1163 |
Phelan-Mcdermid Syndrome |
|
Sacral dimple, Dental malocclusion, 2-3 toe syndactyly, Abnormal periventricular white matter mor... |
OMIM:606232 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Pallor |
OMIM:613341 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Prominent nose, Micrognathia, Limb undergrowth, Congenital bi... |
ORPHA:453510 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Choanal stenosis, Hypoplasia of the radius, Depressed nasal bridge, Distally placed thumb, Short ... |
OMIM:179270 |
Costello Syndrome |
|
Respiratory insufficiency, Pneumothorax, Micrognathia, Redundant neck skin, Hypertrophic cardiomy... |
OMIM:218040 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Arthrogryposis mu... |
OMIM:254210 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Diastema |
OMIM:179250 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Optic atrophy, Respiratory distress, Cryptorchidism, Microcephaly, Intrauterine gr... |
OMIM:615597 |
Beck-Fahrner Syndrome |
|
High palate, Long philtrum, Ventricular septal defect, Hip dysplasia, Periventricular leukomalaci... |
OMIM:618798 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Patent foramen ovale, Short stature, Micrognathia, Clinodactyly, Short nose, Scoli... |
OMIM:618460 |
Immunodeficiency 95 |
|
Respiratory failure, Recurrent viral upper respiratory tract infections, Respiratory distress, Re... |
OMIM:619773 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Cerebral cortical atrophy, Conotruncal defect, Subcortical cerebral atrophy, Abnormal testis morp... |
ORPHA:96147 |
Rauch-Steindl Syndrome |
|
Sacral dimple, Long philtrum, Short stature, Wide nasal bridge, Micrognathia, Short philtrum, Cli... |
OMIM:619695 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Wide mouth, Clinodactyly, Bulbous nose, Macroglossia, Everted lower lip ver... |
OMIM:616789 |
Fanconi Anemia, Complementation Group P |
|
Absent thumb, Short stature, Hypoplasia of the radius, Micrognathia, Bulbous nose, Growth delay, ... |
OMIM:613951 |
X Small Rings |
|
2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Long philtrum, Ventricular septal def... |
ORPHA:96201 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Absence of the sacrum, Mitral stenosis, Bifid uvula, Submucous cleft hard palate, ... |
OMIM:617660 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
High palate, Ventilator dependence with inability to wean, Macroglossia, Respiratory distress, Re... |
ORPHA:254864 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Flexion contracture, Convex nasal ridge, Hallux valgus, Wide nasal bridge, Delayed eruption of te... |
ORPHA:261552 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Retrognathia, Broad femoral neck, Small hand, Distal shortening of limbs, Thickened cortex of lon... |
ORPHA:488434 |
Beta-Thalassemia |
|
Respiratory insufficiency, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hypogonadotropic hypo... |
ORPHA:848 |
Orofaciodigital Syndrome Xiv |
|
Bifid tongue, Micrognathia, Broad hallux, Postaxial hand polydactyly, Cleft palate, Optic disc co... |
OMIM:615948 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Frontotemporal cerebral atrophy, Optic atrophy, Diffuse cerebral atrophy, Hypertrophic ... |
ORPHA:391428 |
Carpenter Syndrome 2 |
|
Wide nasal bridge, Camptodactyly, Pectus excavatum, Short neck, Talipes equinovarus, Narrow palat... |
OMIM:614976 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Micrognathia, Hypoplastic labia majora, Gingival overgrowth, Talipes e... |
OMIM:209885 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Respiratory insufficiency, Absent or minimally ossified vertebral bodies, Ambiguous genitalia, Bi... |
ORPHA:93271 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, High palate, Short foot, Finger syndactyly, Toe syndactyly, Shor... |
ORPHA:93258 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Polysyndactyly of hallux, Ventricular septal defect, Preaxial foot polydac... |
OMIM:235750 |
X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Rachitic rosary, Sacroiliac joint s... |
ORPHA:89936 |
Camurati-Engelmann Disease |
|
Coxa valga, Optic atrophy, Delayed eruption of teeth, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Short stature, Jaundice, Pallor, Syndactyly, Growth delay |
OMIM:615631 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Hand muscle atrophy, Tongue atrophy, Kyphos... |
OMIM:211530 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Flexion contracture, Wide nasal bridge, Delayed eruption of teeth, Micro... |
OMIM:601803 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Short stature, Atrial septal defect, Short metatarsal, Type E brachydactyly |
OMIM:113301 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Gingivitis, Skin ulcer, Palmoplantar hyperkeratosis, Abnormal rib morpho... |
ORPHA:2907 |
Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
Birk-Barel Syndrome |
|
Sacral dimple, High palate, Reduced subcutaneous adipose tissue, Bifid uvula, Short philtrum, Mic... |
OMIM:612292 |
Diabetes Insipidus, Neurohypophyseal |
|
Long philtrum, Short nose, Osteopenia, Wide nose |
OMIM:125700 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Patellar aplasia, Finger syndactyly, ... |
ORPHA:3329 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short stature, Macrocephaly, Short nose, Pectus excavatum, Depressed nasal bridge, Hypoplasia of ... |
ORPHA:2835 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Polymicrogyria, Left ventricular hypertrophy, Respiratory distress, Death in infancy |
OMIM:616974 |
Floating-Harbor Syndrome |
|
Precocious puberty, Congenital posterior urethral valve, Microdontia, Dislocated radial head, Cel... |
ORPHA:2044 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b... |
ORPHA:3344 |
Velocardiofacial Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Pierre-Robin sequence, Ventricular septal defect, Short ... |
OMIM:192430 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Deep philtrum, Narrow nasal ridge, Prominence of the premaxilla, Short nose, Evert... |
OMIM:137550 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Perisylvian polymicrogyria, Abnormal vertebral morphology, Abnormal septum pe... |
ORPHA:280195 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Short stature, Jaundice, Atrial septal defect, Microcephaly, Abnormal ... |
ORPHA:290 |
Distal Monosomy 15Q |
|
Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, 2-3 toe cutaneou... |
ORPHA:1596 |
Ohdo Syndrome, Sbbys Variant |
|
Micrognathia, Microdontia, Long hallux, Dilated cardiomyopathy, Thin upper lip vermilion, Hypospa... |
OMIM:603736 |
Osteogenesis Imperfecta, Type Viii |
|
Femoral retroversion, Multiple prenatal fractures, Dentinogenesis imperfecta, Recurrent fractures... |
OMIM:610915 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Wide nasal bridge, Optic atrophy, A... |
ORPHA:217093 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Wide nose, 2-3 toe syndactyly, Patent foramen ovale, Double outlet right ventricle, Long philtrum... |
ORPHA:477817 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Primary microcephaly, Short stature, Short nose |
OMIM:245570 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Short stature, Bronchiectasis, Malabsorption, Micrognathia, Macroglossia, Short nose, Depressed n... |
OMIM:242860 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Ventricu... |
ORPHA:210122 |
Hypertrichosis Cubiti |
|
Rhizomelia, Abnormality of the elbow, Severe short stature, Joint hyperflexibility, Microcephaly,... |
ORPHA:2220 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Rhizomelia, Micrognathia, Respiratory distress, Recurrent pneumonia, Growth ... |
OMIM:616271 |
Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Broad hallux, Smooth philtrum, Respiratory distress, Recurrent u... |
ORPHA:404448 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Tapered finger, Thick lower lip vermilion, Long hallux, Short nose, Thin upper lip vermilion, Ant... |
OMIM:619854 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Witteveen-Kolk Syndrome |
|
Wide nasal bridge, Toe syndactyly, Overlapping toe, Unilateral cryptorchidism, Radial deviation o... |
OMIM:613406 |
Dubowitz Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Postnatal growth retardation, Sacral ... |
OMIM:223370 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic atrophy, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, Cleft pala... |
OMIM:614866 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Flexion contracture, Tapered finger, Wide nasal bridge, Optic atrophy, Camptodactyly, Overlapping... |
ORPHA:487796 |
Cat-Eye Syndrome |
|
Short stature, Hip dysplasia, Anal atresia, Abnormal rib morphology, Intrauterine growth retardation |
ORPHA:195 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Flexion contracture, High palate, Long philtrum, Convex nasal ridge, Cut... |
OMIM:208050 |
Transaldolase Deficiency |
|
Patent foramen ovale, Telangiectasia, Ventricular septal defect, Wide mouth, Deep philtrum, Asthm... |
OMIM:606003 |
Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, High palate, Short stature, Ventricular septal defect, Mitral stenosis, ... |
OMIM:616564 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Short stature, Micrognathia, Bifid uvula, Respiratory distress, Cleft palate |
OMIM:606164 |
Meckel Syndrome 12 |
|
Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Cerebral hypoplasia, Bifid uvula, Arrhine... |
OMIM:616258 |
Aspartylglucosaminuria |
|
Anterior beaking of lumbar vertebrae, Macroorchidism, Mandibular prognathia, Pectus carinatum, Wi... |
ORPHA:93 |
Hand-Foot-Genital Syndrome |
|
Sacral dimple, Hallux varus, Short first metatarsal, Short 1st metacarpal, Bicornuate uterus, Ven... |
ORPHA:2438 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Death in infancy, Micrognathia, Hip dysplasia, J... |
OMIM:208085 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Long philtrum, Short stature, Ventricular septal defect, Cerebellar hypoplasia, Atrial septal def... |
ORPHA:75389 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Wide mouth, Wide nasal bridge, Kyphosis, Micrognathia, Spinal rigidity, Short philtrum, Depressed... |
ORPHA:2062 |
Keutel Syndrome |
|
Wide nasal bridge, Epiphyseal stippling, Short hallux, Airway obstruction, Ventricular septal def... |
OMIM:245150 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Mesomelic short stature, Neonatal short-limb short stature... |
OMIM:156230 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Ambiguous genitalia, Micrognathia, Osteolysis, Cleft palate, Aplasia... |
ORPHA:1052 |
Neurocardiofaciodigital Syndrome |
|
Retrognathia, Polydactyly, Overhanging nasal tip, High palate, Cavum septum pellucidum, Short sta... |
OMIM:619869 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Tapered finger, Toe syndactyly, Everted lower lip vermilion, Smooth philtrum, Sacral dimple, Lowe... |
ORPHA:459070 |
22Q11.2 Deletion Syndrome |
|
Truncus arteriosus, Wide nasal bridge, Optic atrophy, Micrognathia, Abnormal thorax morphology, S... |
ORPHA:567 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Toe syndactyly, Spina bifida occulta, Bilateral talipes equinovarus, 3-5 toe syndactyly, Septate ... |
OMIM:300707 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Bilateral cleft lip, Micrognathia, Ankyloglossia, Microretrognathia, M... |
OMIM:618021 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Thoracic hypoplasia, Ulnar deviation of the h... |
OMIM:208150 |
Keppen-Lubinsky Syndrome |
|
Respiratory insufficiency, Flexion contracture, Micrognathia, Prominent nasal tip, Progeroid faci... |
ORPHA:435628 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Microdontia, Taurodontia, Bifid uvula, Hypoplastic labia majora, 2-3 toe cutaneous... |
OMIM:129400 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Thickened ribs, Flexion contracture, Wide nasal bridge, Optic atrophy, P... |
ORPHA:217085 |
Warburg Micro Syndrome 2 |
|
Global brain atrophy, Flexion contracture, Clinodactyly of the 4th toe, Optic atrophy, Prominent ... |
OMIM:614225 |
9q subtelomeric deletion syndrome |
|
Short nose, Protruding tongue, Microcephaly, Abnormal heart morphology, Anteverted nares |
DECIPHER:52 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Cerebral cortical atrophy, Widely spaced teeth, Advanced eruption of teeth, Macrocephaly, Short n... |
OMIM:617865 |
Deeah Syndrome |
|
Prominent nasal tip, Short neck, Narrow palate, Short nose, Narrow mouth, Cryptorchidism, Death i... |
OMIM:619004 |
Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... |
OMIM:149730 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Metaphyseal sclerosis, Hypogonadism, Pericardial effusion, Scler... |
ORPHA:2905 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Genu valgum, Flexion contracture, Convex nasal ridge, Cleft soft palate, Short stature, Optic atr... |
OMIM:619321 |
Pleural Mesothelioma |
|
Abnormal thorax morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Branchiogenic-Deafness Syndrome |
|
Short stature, Submucous cleft hard palate, Branchial cyst, Short distal phalanx of finger, Branc... |
OMIM:609166 |
Fanconi Anemia, Complementation Group W |
|
Abnormal periventricular white matter morphology, Absent thumb, Hypoplasia of the radius, Abnorma... |
OMIM:617784 |
Metaphyseal Anadysplasia 2 |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... |
OMIM:613073 |
Vater/Vacterl Association |
|
Abnormal rib morphology, Postnatal growth retardation, Choanal atresia, Ventricular septal defect... |
OMIM:192350 |
Choanal Atresia |
|
Cyanosis, Polydactyly, Abnormal nasal mucus secretion, Chronic sinusitis, Respiratory distress, U... |
ORPHA:137914 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Left ventricular hypertrophy, Respiratory distress, Intrauterine growth reta... |
OMIM:616733 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Prominent nose, Wide anterior fontanel, Short stature, Wide nasal ... |
OMIM:614886 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Kyphosis, Thick corpus callosum, Macrocephal... |
OMIM:603387 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Optic atrophy, Abnormal cortical gyration, Cerebellar hypoplasia, Macrogyria, ... |
ORPHA:899 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Flexion contracture, Micrognathia, Central sleep apnea, 3-4 fing... |
OMIM:620029 |
Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Elbow flexion contracture, Hypoplastic vertebral b... |
OMIM:252940 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology,... |
ORPHA:1461 |
Astley-Kendall Dysplasia |
|
Disproportionate short-limb short stature, Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, High palate, Ventricular septal defect, Deep philtrum, Micrognathia, Hip di... |
OMIM:613884 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Congenitally corrected transposition of the ... |
OMIM:619702 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short stature, Limitation of joint mobility, Brachydactyly, Aortic val... |
ORPHA:3449 |
Williams Syndrome |
|
Peptic ulcer, Precocious puberty, Colonic diverticula, Hallux valgus, Wide nasal bridge, Abnormal... |
ORPHA:904 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Underdeveloped nasal alae, Mandibular prognathia, Short digit, Short philtrum, Clinodactyly of th... |
OMIM:300912 |
Juvenile Polyposis Of Infancy |
|
Short stature, High, narrow palate, Intussusception, Freckled genitalia, Macrocephaly, Clubbing o... |
ORPHA:79076 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Narrow palate, Long philtrum, Thick lower lip vermilion, Micrognathia, Mitral valve prolapse, Bic... |
ORPHA:555877 |
Proximal Spinal Muscular Atrophy |
|
Knee flexion contracture, Distal upper limb muscle weakness, Flexion contracture, Respiratory fai... |
ORPHA:70 |
Gabriele-De Vries Syndrome |
|
Patent foramen ovale, Distal arthrogryposis, Pierre-Robin sequence, High palate, Finger joint hyp... |
OMIM:617557 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Micrognathia, Pectus excavatum, Hypertrophic cardiomyopathy, Bone cyst, Patent foramen ovale, Gen... |
ORPHA:363700 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Cyanosis, Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distr... |
OMIM:610921 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Short stature, Wide nasal bridge, Submucous cleft hard palate, Joint hyp... |
OMIM:618106 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Complete duplication of thumb phalanx, Short stature, Absent radius, Bruising susce... |
OMIM:600901 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect, Death in infancy, Cerebellar hypoplasia, Secondary mic... |
OMIM:613730 |
Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Hypoplasia of the brainstem, Reduced cerebral white matter volume, Ventricu... |
OMIM:614961 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Progressive forearm bowing, Convex nasal ridge, Tarsometatarsal synostos... |
OMIM:600383 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Cerebral cortical atrophy, Multiple joint contractures, Hallux valgus, Narrow nasal ... |
ORPHA:464306 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Convex nasal ridge, Short stature, Simplified gyral pattern, Clinodactyly, Dilated cardiomyopathy... |
OMIM:616541 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Truncus arteriosus, Ventricular septal defect, Death in infancy, Atrial septal defect, ... |
OMIM:617478 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Patent foramen ovale, Prominent nose, Ventricular septal defect, Left ventricular ... |
ORPHA:466791 |
Cat Eye Syndrome |
|
Rectal atresia, Short stature, Ventricular septal defect, Volvulus, Micrognathia, Anal atresia, A... |
OMIM:115470 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, External genital hypoplasia, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial ... |
OMIM:615981 |
Poikiloderma With Neutropenia |
|
Retrognathia, Underdeveloped nasal alae, Telangiectasia, Long philtrum, Short stature, Micrognath... |
OMIM:604173 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Cuboidal metacarpal, Hip dislocation, Joint stiffness, Abnormal pelvic girdle b... |
ORPHA:968 |
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities |
|
Hypoplasia of the brainstem, High palate, Macrocephaly, Short philtrum, Atrial septal defect, Sin... |
OMIM:618354 |
Trichothiodystrophy 1, Photosensitive |
|
Retrognathia, Cutaneous photosensitivity, Flexion contracture, Telangiectasia, Short stature, Hyp... |
OMIM:601675 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism, Hypoplasia of the corpus callosum, Open mouth, Respira... |
OMIM:616816 |
Stt3B-Cdg |
|
Optic atrophy, Respiratory distress, Cryptorchidism, Microcephaly, Intrauterine growth retardatio... |
ORPHA:370924 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Convex nasal ridge, Hypoplastic labia majora, Scaling skin, Smooth philtrum, Limited elbow extens... |
OMIM:618419 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Aspiration pneumonia, Cleft soft palate |
ORPHA:99772 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Knee flexion contracture, Hand clenching, High palate, Long philtrum, Short stature, Narrow naris... |
OMIM:617402 |
Gómez-López-Hernández Syndrome |
|
Thin vermilion border, Anteverted nares, Short stature, Cerebellar vermis hypoplasia |
ORPHA:1532 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Macrocephaly, Shortening of all phalanges ... |
OMIM:601356 |
Tetrasomy 18P |
|
Long philtrum, Short nose, Narrow mouth, Scoliosis, Microcephaly, Thin vermilion border, Large hands |
ORPHA:3307 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Death in infancy, Thin corpus callosum, Apnea, Hypertrophic cardiomyop... |
OMIM:616277 |
Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Prominent nose, Long philtrum, Short stature, Ventricular septal defect, Co... |
OMIM:619268 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Underdeveloped nasal alae, Precocious puberty, Widely-spaced incisors, Short philtrum, 2-3 toe cu... |
OMIM:300801 |
Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Long philtrum, Short nose, Downturned corners of mouth, Narrow mouth, Thin... |
ORPHA:1906 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Kyphoscoliosis, Respiratory distress |
OMIM:619099 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Complete duplication of thumb phalanx, Short stature, Absent radius, Bruising susce... |
OMIM:227650 |
Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly, Complete duplication of t... |
OMIM:227646 |
Breath-Holding Spells |
|
Cyanosis, Pallor |
OMIM:607578 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Cardiomegaly, Ventricular septal defect, Optic atrophy, Pallor, Polycystic ovaries, Cou... |
ORPHA:137675 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hypoplasia of penis, Abnormal ve... |
ORPHA:77298 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mout... |
OMIM:619680 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Ventilator dependence with inability to wean, Respiratory distress, Re... |
ORPHA:254875 |
Elsahy-Waters Syndrome |
|
Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Pectus excava... |
OMIM:211380 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Cerebellar hypoplasia, Clinodactyly, Short nose, Syndactyly, Microcephaly |
OMIM:618087 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Depressed nasal ridge, Short stature, Limb undergrowth, Narrow chest, Abnorm... |
ORPHA:1861 |
Roifman-Chitayat Syndrome |
|
Short metacarpal, Wide nasal bridge, Optic atrophy, Arthritis, Depressed nasal bridge, Short neck... |
OMIM:613328 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Retrognathia, High palate, Deep philtrum, Delayed eruption of teeth, Hyperintensity of cerebral w... |
ORPHA:1675 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Wide nasal bridge, Optic atrophy, Pectus excavatum, Everted lower lip vermili... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Wide nasal bridge, Optic atrophy, Pectus excavatum, Everted lower lip vermili... |
ORPHA:363958 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Abnormal left ventricular outflow tract morphology, Ambiguous atrioventricular connecti... |
ORPHA:216694 |
Spondyloocular Syndrome |
|
Thin bony cortex, Duodenal ulcer, Short stature, Dysplastic aortic valve, Mitral valve prolapse, ... |
OMIM:605822 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Absent inner and outer dynein arms, Nasal polyposis, Respiratory ... |
OMIM:606763 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Ambiguous genitalia, Flexion contracture, Cerebral cortical atrophy, Optic atrophy, Everted lower... |
ORPHA:847 |
Myopathy With Extrapyramidal Signs |
|
Encephalomalacia, Perisylvian polymicrogyria, Ventricular septal defect, Optic atrophy, Joint lax... |
OMIM:615673 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Thick upper lip vermilion, Wide mouth, Wide nasal bridge, Thick lower lip vermilion, Macrocephaly... |
OMIM:611087 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Mitral atresia, Short stature, Bicornuate uterus, Hypoplasia of the radius, Toe syndactyly, Wide ... |
ORPHA:140952 |
Classical Ehlers-Danlos Syndrome |
|
Shoulder dislocation, Pulp calcification, Hip dislocation, Dislocated radial head, Fragile skin, ... |
ORPHA:287 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Sprengel anomaly, Short neck, Scoliosis, Abnormal rib... |
OMIM:118100 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Increased size of nasopharyngeal adenoids, Ventricular septal defect, Macrocephaly, Atrial septal... |
OMIM:619769 |
Genitopatellar Syndrome |
|
Short phalanx of finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Talipes equi... |
OMIM:606170 |
Distal Monosomy 12Q |
|
2-3 toe syndactyly, Micrognathia, Elbow flexion contracture, Median cleft lip, Overlapping toe, U... |
ORPHA:96149 |
X-Linked Intellectual Disability, Nascimento Type |
|
Overlapping toe, Bilateral talipes equinovarus, Patent foramen ovale, Double outlet right ventric... |
ORPHA:163956 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... |
ORPHA:1302 |
Ciliary Dyskinesia, Primary, 30 |
|
Respiratory insufficiency, Decreased nasal nitric oxide, Ventricular septal defect, Bronchiectasi... |
OMIM:616037 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Retrognathia, Precocious puberty, High palate, Prominent nose, Ventricular septal defect, Microgn... |
ORPHA:96191 |
Mowat-Wilson Syndrome |
|
Wide nasal bridge, Delayed eruption of teeth, Prominent nasal tip, Pectus excavatum, Abnormal cor... |
OMIM:235730 |
Vacterl With Hydrocephalus |
|
Retrognathia, Abnormal fallopian tube morphology, Esophageal atresia, Absence of the sacrum, Micr... |
ORPHA:3412 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Wide nasal bridge, Micrognathia, Hydrometrocolpos, Mild postnatal gr... |
OMIM:150230 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Hypoplastic left heart, Aortic valve st... |
OMIM:615779 |
Orofaciodigital Syndrome Type 14 |
|
Bifid tongue, Broad hallux, Duplication of phalanx of hallux, Short neck, Postaxial hand polydact... |
ORPHA:434179 |
Spontaneous Periodic Hypothermia |
|
Abnormal pattern of respiration, Aplasia/Hypoplasia of the corpus callosum, Pallor |
ORPHA:29822 |
Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Abnormal cortical g... |
ORPHA:2538 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Abnormal basal ganglia MRI s... |
ORPHA:444013 |
Distal Monosomy 19P13.3 |
|
Pulmonary valve atresia, Ventricular septal defect, Short philtrum, Vaginal hernia, Hypoplasia of... |
ORPHA:96129 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Optic atrophy, Death in infancy, Dilated cardiomyopathy, Respiratory d... |
OMIM:614299 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Cerebral cortical atrophy, High palate, Respiratory distress, Hy... |
OMIM:619272 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Respiratory failure, Cardiomegaly |
ORPHA:99931 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Respiratory failure, Ventricular septal de... |
ORPHA:209905 |
Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Flexion contracture, Cough, Respiratory distress |
ORPHA:77260 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Wide nasal bridge, Short nose, Broad nasal tip, Microcephaly, Cerebral atrophy, Tented upper lip ... |
OMIM:614207 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Cyanosis, Death in infancy, Clubbing, Apnea, Dyspnea, Respirator... |
OMIM:265120 |
Mucopolysaccharidosis Type 3 |
|
Flexion contracture, Optic atrophy, Adenoiditis, Abnormal rib morphology, Thick nasal alae, Abnor... |
ORPHA:581 |
Myopathy And Diabetes Mellitus |
|
Achilles tendon contracture, Shoulder girdle muscle weakness, Respiratory distress, Hyporeflexia ... |
ORPHA:2596 |
Oculocerebrocutaneous Syndrome |
|
Aplasia/Hypoplasia of the corpus callosum, Finger syndactyly, Wide mouth, Cerebellar hypoplasia, ... |
ORPHA:1647 |
X-Linked Centronuclear Myopathy |
|
Respiratory failure requiring assisted ventilation, Pneumonia, High palate, Respiratory distress |
ORPHA:596 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ventricular septal defect, Asthma, Hypoxemia, Respiratory distress, Atrial septal defect, Oxygen ... |
OMIM:610978 |
Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
Menke-Hennekam Syndrome 1 |
|
Flexion contracture, Everted upper lip vermilion, Micrognathia, Overlapping toe, Broad hallux, Cl... |
OMIM:618332 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Abnormality of the wrist, Fibular duplication, Prominent nose, Preaxial foot poly... |
ORPHA:2378 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, 2-3 toe syndactyly, Pulmonary arterial hypertension, Finger syndactyly, Aortopu... |
OMIM:620025 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Abnormal thorax morphology, Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, T... |
ORPHA:70587 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Respiratory insufficiency, Malabsorption, Arthriti... |
ORPHA:183 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Underdeveloped nasal alae, Flexion contracture, Narrow nasal ridge, Cutis laxa, Dermal translucen... |
OMIM:614438 |
Feingold Syndrome 1 |
|
Short toe, 2-3 toe syndactyly, High palate, Jejunal atresia, Wide nasal bridge, Esophageal atresi... |
OMIM:164280 |
Laryngotracheal Angioma |
|
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Narrow palate, Short stature, Kyphosis, Atrial septal defect, Depr... |
OMIM:618223 |
1Q41Q42 Microdeletion Syndrome |
|
Underdeveloped nasal alae, Short stature, Submucous cleft hard palate, Depressed nasal bridge, Br... |
ORPHA:250999 |
Williams-Beuren Syndrome |
|
Flexion contracture, Colonic diverticula, Hallux valgus, Coronary artery stenosis, Premature gray... |
OMIM:194050 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Kaposiform Lymphangiomatosis |
|
Abnormality of the ischium, Abnormality of the cervical spine, Pericardial effusion, Abnormal tho... |
ORPHA:464329 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Wide mouth, Hyperintensity of cerebral white matter on MR... |
OMIM:617798 |
X-Linked Sideroblastic Anemia |
|
Dyspnea, Pallor |
ORPHA:75563 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Wide nasal bridge, Micrognathia, Progeroid facial appearance, Patent foramen ovale, Malar flatten... |
OMIM:613177 |
Dermotrichic Syndrome |
|
Aganglionic megacolon, Abnormal vertebral morphology, Short nose, Depressed nasal bridge, Proport... |
ORPHA:99688 |
Tetanus |
|
Stiff neck, Abnormal autonomic nervous system physiology, Respiratory distress, Autonomic bladder... |
ORPHA:3299 |
Kabuki Syndrome 1 |
|
Premature thelarche, Short 5th finger, Wide nasal bridge, Recurrent aspiration pneumonia, Microgn... |
OMIM:147920 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Death in childhood, Ventricular septal defect, Cerebral atrophy |
OMIM:613759 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
2-3 toe syndactyly, Hemiballismus, Prominent nasal tip, Joint laxity, Atrial septal defect, Short... |
ORPHA:522077 |
Congenital Myopathy 17 |
|
Respiratory insufficiency, Dental malocclusion, Distal arthrogryposis, Mandibular prognathia, Hig... |
OMIM:618975 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
2-3 toe syndactyly, Prominent nose, Short stature, Abnormal cerebral white matter morphology, Kyp... |
ORPHA:391307 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaf... |
ORPHA:555874 |
Vici Syndrome |
|
Everted upper lip vermilion, Micrognathia, Median cleft lip, Cleft palate, Postnatal growth retar... |
OMIM:242840 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Facial telangiectasia, Hallux valgus, Elbow flexion contracture, Camptod... |
OMIM:602782 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Short neck, Talipes equinovarus, Fixed elbow flexion, Asthma, Narrow mouth, Microcephaly, Cryptor... |
ORPHA:495818 |
Congenital Varicella Syndrome |
|
Cerebral cortical atrophy, Intrauterine growth retardation, Microcephaly, Micromelia |
ORPHA:291 |
Monosomy 22 |
|
Retrognathia, Wide nose, Contractures of the large joints, High palate, Long philtrum, Finger syn... |
ORPHA:96123 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Broad ribs, Short stature, Short ribs, Short long bone, Irregular carpal b... |
OMIM:252600 |
Loeys-Dietz Syndrome 1 |
|
Retrognathia, Abnormal sternum morphology, Eosinophilic infiltration of the esophagus, Dermal tra... |
OMIM:609192 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Periventricular leukomalacia, Atrial septal defect, Scoliosis, Microce... |
ORPHA:357225 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Short stature, Decreased testicular size, Hypoplasia of penis, Short neck, Abnormal... |
ORPHA:2234 |
Aicardi-Goutieres Syndrome 1 |
|
Leukoencephalopathy, Short stature, Petechiae, Multiple gastric polyps, Purpura, Acrocyanosis, Pr... |
OMIM:225750 |
Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Malabsorption, Arthritis, Asthma, Dilated cardiomyopathy, Myelofibrosis, Club... |
ORPHA:3260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Leukoencephalopathy, High palate, Exertional dyspnea, Optic atrophy, Respiratory distress, Hypert... |
OMIM:220110 |
Acute Interstitial Pneumonia |
|
Cyanosis, Bronchiectasis, Pericardial effusion, Hypoxemia, Pleural effusion, Crackles, Dyspnea, R... |
ORPHA:79126 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Short... |
OMIM:187760 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Cyanosis, Bacterial endocarditis, Telangiectasia, Pleural empyem... |
ORPHA:2038 |
Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Depressed nasal ridge, Short stature, Short nose, Dimple on nasal tip, Dep... |
ORPHA:1791 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Lower-limb joint contracture, Everted upper lip vermilion, Ventricular septal defect, Widely spac... |
ORPHA:513456 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Respiratory insufficiency, Cyanosis, Cerebral edema, Respiratory failure, Focal T2 hypointense ba... |
OMIM:252010 |
Developmental And Epileptic Encephalopathy 100 |
|
Micrognathia, Elbow flexion contracture, Microdontia, Gingival overgrowth, Polymicrogyria, Bilate... |
OMIM:619777 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Protrusio acetabuli, Recurrent fractures, Long philtrum, Rhizomelia, Short s... |
OMIM:610682 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cyanosis, Bronchiectasis, Interstitia... |
OMIM:610913 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Episodic tachypnea, Pericardial effusion, Jaundi... |
ORPHA:26793 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Bicornuate uterus, Vertebral segmentation defect, Azoospermia, Short neck, Abnorma... |
ORPHA:2578 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Respiratory insufficiency, Short stature, Biparietal narrowing, Clinod... |
ORPHA:2031 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, High palate, Micrognathia, Pectus excavatum, Coronary-pulmonary artery fistula |
OMIM:619699 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Tapered finger, Pectus excavatum, Duodenal atresia, Short toe, Ventric... |
ORPHA:464311 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Cerebral cortical atrophy, Shawl scrotum, Short philtrum, Short nose, Hypoplasia of the corpus ca... |
ORPHA:85277 |
Grange Syndrome |
|
Syndactyly, Increased susceptibility to fractures, Short palm, Ventricular septal defect |
ORPHA:79094 |
Laryngotracheoesophageal Cleft Type 4 |
|
Respiratory insufficiency, Abnormal cardiac septum morphology, Tracheoesophageal fistula, Abnorma... |
ORPHA:93941 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Wide mouth, Macrocephaly, Joint laxity, Atrial septal defect, Megalencephaly, Periventricular whi... |
ORPHA:500533 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hyperlordosis, Genu valgum, Precocious puberty, Tapered finger, Broad long bone diaphyses, Hip dy... |
OMIM:301066 |
Coccidioidomycosis |
|
Osteomyelitis, Abnormal long bone morphology, Pleural empyema, Abnormality of the male genitalia,... |
ORPHA:228123 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Micrognathia, Narrow mouth, Abn... |
OMIM:154500 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul... |
OMIM:607941 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Retrognathia, Pneumothorax, Wide nasal bridge, Narrow naris, Hypoplastic right heart, Hip dysplas... |
OMIM:617403 |
Oculocerebrorenal Syndrome Of Lowe |
|
Respiratory insufficiency, Gingivitis, Delayed eruption of teeth, Micrognathia, Taurodontia, Hip ... |
ORPHA:534 |
Loeys-Dietz Syndrome 2 |
|
Micrognathia, Bifid uvula, Camptodactyly, Pectus excavatum, Bicuspid pulmonary valve, Cleft palat... |
OMIM:610168 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Ovoid vertebral bodies, Narrow greater sciatic notch, Metaphyseal irregu... |
ORPHA:85167 |
Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Toe syndactyly, Micrognathia, Microdontia, Bifid uvula, Orofacial cleft, Abnormal d... |
ORPHA:2363 |
Macrocephaly/Autism Syndrome |
|
High palate, Long philtrum, Cutis laxa, Biparietal narrowing, Hydrocele testis, Joint laxity, Pen... |
OMIM:605309 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Convex nasal ridge, Broad hallux, Pneumonia, Talon cusp, Narrow palate, Avascular necrosis of the... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Convex nasal ridge, Micrognathia, Broad hallux, Abnormal corpus callosum morphology,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Convex nasal ridge, Micrognathia, Broad hallux, Abnormal corpus callosum morphology,... |
ORPHA:353277 |
Leigh Syndrome With Leukodystrophy |
|
Ventricular septal defect, Optic atrophy, Apnea, Hypertrophic cardiomyopathy, Focal T2 hyperinten... |
ORPHA:255241 |
Cebalid Syndrome |
|
High palate, Depressed nasal ridge, Short nose, Depressed nasal bridge, Anteverted nares, Polymic... |
OMIM:618774 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Cyanosis, Testicular microlithiasis, Pneumothorax, Exertional dyspnea,... |
ORPHA:60025 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Stomatitis, Respiratory distress, Osteolysis, Periostiti... |
OMIM:612852 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Macrocephaly, Epispadias, Short nose, Hypospadias, Growth delay, Anteverte... |
ORPHA:3339 |
Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Wide nasal bridge, Episodic tachypnea, Thin corpus callosum, At... |
OMIM:608629 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Hypoplasia of the brainstem, Long philtrum, Wide nasal bridge, Ventricular s... |
OMIM:619306 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Duplication of phalan... |
OMIM:263630 |
Leishmaniasis |
|
Abnormal oral cavity morphology, Rhinitis, Skin ulcer, Pallor, Abnormal oral mucosa morphology |
ORPHA:507 |
Evans Syndrome |
|
Petechiae, Jaundice, Bruising susceptibility, Pallor, Epistaxis, Dyspnea |
ORPHA:1959 |
Cardiac Diverticulum |
|
Endocarditis, Patent foramen ovale, Congenital defect of the pericardium, Ventricular septal defe... |
ORPHA:1686 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Micrognathia, Uterus didelphys, Polymicrogyria, Jejunal atresia, Short... |
OMIM:618820 |
Congenital Disorder Of Glycosylation, Type It |
|
Pulmonary arterial hypertension, Cardiomegaly, Pierre-Robin sequence, Ventricular septal defect, ... |
OMIM:614921 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Respiratory distress, Lissencephaly, Abnormal mucociliary clearance, Hypoplasia o... |
OMIM:619466 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Widely spaced teeth, Thick lower lip ve... |
OMIM:280000 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty, High palate, Prominent nose, Wide nasal bridge, Cardiac rhabdomyoma, Microgna... |
OMIM:618971 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Flexion contracture, Short stature, Submucous cleft hard palate, Atrial septal defect, Delayed pu... |
OMIM:618891 |
Farber Disease |
|
Respiratory insufficiency, Short toe, Abnormal sternum morphology, Flexion contracture, Abnormali... |
ORPHA:333 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Cortical dysplasia, Agenes... |
OMIM:619083 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea, Micrognathia, Short nose, Arachnodactyly |
ORPHA:1129 |
Cardiomyopathy, Dilated, 1S |
|
Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Perimembranous ventricular septal... |
OMIM:613426 |
Congenital Laryngeal Web |
|
Stridor, Abnormal cardiac septum morphology, Respiratory distress, Short stature |
ORPHA:2374 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Foot polydactyly, Micrognathia, Bifid thoracic vertebrae, Bifid nose, ... |
ORPHA:268249 |
Meester-Loeys Syndrome |
|
Abnormal sternum morphology, Striae distensae, High palate, Short stature, Gingival overgrowth, M... |
OMIM:300989 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Swollen lip, Upper airway obstruction, Erythema, Tongue edema, Angioedema, ... |
ORPHA:100057 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Cerebral edema, Abnormal globus pallidus morphology, Pallor, Apnea, Abnormal cer... |
ORPHA:439218 |
Mucolipidosis Type Ii |
|
Hip dislocation, Telangiectases of the cheeks, Gingival overgrowth, Talipes equinovarus, Postnata... |
ORPHA:576 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Hypoxemia, Clubbing, Inspiratory crackles, Restrictive ventilatory defect, Dyspnea, Cou... |
OMIM:610910 |
Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Ventricular septal defect, Truncus arteriosus, Cutis marmorata, Syndactyly, Br... |
OMIM:616589 |
Folinic Acid-Responsive Seizures |
|
Apnea, Frontotemporal cerebral atrophy, Respiratory distress, Optic atrophy |
ORPHA:79097 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Hand oligodactyly, Neonatal death, Aplasia of the ulna |
OMIM:276822 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Atrial Septal Defect, Ostium Primum Type |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Left ventricular hypertrophy, Club... |
ORPHA:99106 |
Alpha-Mannosidosis, Infantile Form |
|
Thickened ribs, Cerebral cortical atrophy, Hypoplastic inferior ilia, Cortical thickening of long... |
ORPHA:309282 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Convex nasal ridge, Abnormal testis morphology, ... |
ORPHA:79474 |
Alternating Hemiplegia Of Childhood |
|
Aspiration, Abnormal autonomic nervous system physiology, Respiratory distress, Pallor, Apnea, Fl... |
ORPHA:2131 |
Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Atrioventricular canal defect, Tapered finger, Wide nasal bridge, Dermatographic urticaria, Thin ... |
OMIM:619480 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Prominent nose, Abnormal carpal morphology, Short middle phalanx of the 5th finger, Short stature... |
ORPHA:319675 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... |
OMIM:616749 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pericardial effusio... |
ORPHA:199241 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Non-Functioning Paraganglioma |
|
Cranial nerve compression, Flushing, Pallor |
ORPHA:94080 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Toe syndactyly, Hypodontia, Bifid uvula, 3-4 finger cutaneous syndactyly, C... |
ORPHA:69085 |
Monosomy 13Q34 |
|
Prominent nose, Micrognathia, Postaxial foot polydactyly, Epistaxis, Broad nasal tip, Growth dela... |
ORPHA:96168 |
Indomethacin Embryofetopathy |
|
Respiratory insufficiency, Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Respiratory failure, Arthrogrypo... |
OMIM:607598 |
Schisis Association |
|
Anencephaly, Anal atresia, Tracheoesophageal fistula, Microcephaly, Micromelia, Cleft palate, Uni... |
ORPHA:63862 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hip dislocation, Butterfly vertebrae, Scaling skin, Postaxial hand polydactyly, Cleft palate, Ect... |
OMIM:308205 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, High palate, Unbalanced atrioventricular canal defect, Short statu... |
OMIM:619657 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Cleft palate, Talipes equinovarus, Polymicrogyria, Imperforate hymen, Ventricular... |
OMIM:100300 |
Coxoauricular Syndrome |
|
Short stature, Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia, Abnormality o... |
ORPHA:1508 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... |
ORPHA:93322 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Short stature, Abnormal thorax morphology, Hip dislocation, Dislocated radial head, ... |
OMIM:605274 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tapered finger, Wide nasal bridge, Optic atrophy, Micrognathia, Radial deviation of finger, Short... |
OMIM:309580 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Leukoencephalopathy, Optic atrophy, Jaundice... |
ORPHA:79282 |
Transaldolase Deficiency |
|
Abnormality of the clitoris, Telangiectasia, Premature skin wrinkling, Abnormal respiratory syste... |
ORPHA:101028 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Hypoventilation, Short stature, Asthma, Abnormal autonomic nervous system physiology, M... |
ORPHA:293987 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Short stature, Pyloric stenosis, Hypospadias, Cryptorchidism, Hypoplas... |
OMIM:218350 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Short stature, Microdontia, Limitation of joint mobility, Abnormal thumb morpholo... |
ORPHA:2719 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Micrognathia, Short nose, Decreased nerve conduction velocity, Cerebral atrophy |
OMIM:256600 |
Leigh Syndrome With Cardiomyopathy |
|
Global brain atrophy, Basal ganglia gliosis, Neuronal loss in basal ganglia, Optic atrophy, Diffu... |
ORPHA:70474 |
Holoprosencephaly 7 |
|
Wide nasal bridge, Median cleft lip, Hypoplastic nasal septum, Depressed nasal tip, Cleft palate,... |
OMIM:610828 |
Pericardial And Diaphragmatic Defect |
|
Abnormal sternum morphology, Mitral stenosis, Bicuspid aortic valve, Partial diaphragmatic absenc... |
ORPHA:2847 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, R... |
ORPHA:60032 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... |
ORPHA:411703 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Gingivitis, Flexion contracture, Short 4th metacarpal, Abnormality of th... |
ORPHA:2908 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Hand clenching, Thin corpus callosum, Apnea, Protruding tongue, Microcephaly |
OMIM:619580 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Cerebellar hypoplasia, Jaundice, Pallor, Secondary microcephaly, Cerebral atrophy |
OMIM:613839 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Tapered finger, Abnormal metaphysis morphology, Abnormal aortic valve morphology, Supernumerary t... |
ORPHA:86818 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Optic atrophy, Cardiomyopathy |
ORPHA:79312 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Death in infancy, Hip dysplasia, Jaundice, Arthrogryposis multiplex co... |
OMIM:613404 |
Osteoporosis-Pseudoglioma Syndrome |
|
Increased susceptibility to fractures, Biconcave vertebral bodies, Recurrent fractures, Short sta... |
OMIM:259770 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Ambiguous genitalia, female, Abnormal cardiac septum morphology, Microgn... |
OMIM:249000 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Abnormal sternum morphology, High palate, Ventricular septal defect, Short stature, Relative macr... |
OMIM:607721 |
White-Kernohan Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Wide mouth, Hip dysplasia, Joint laxity, Short nose, Thi... |
OMIM:619426 |
Dyschondrosteosis-Nephritis Syndrome |
|
Short stature, Microdontia, Radial bowing, Ulnar bowing, Mesomelic short stature, Aplasia/Hypopla... |
ORPHA:1765 |
Sepsis In Premature Infants |
|
Cyanosis, Enterocolitis, Petechiae, Nasal flaring, Jaundice, Abnormal respiratory system physiolo... |
ORPHA:90051 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Ventricular septal defect, Exertional d... |
ORPHA:99094 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Genu valgum, Cerebral cortical atrophy, Multifocal cerebral white matter abnormalities,... |
ORPHA:488627 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Dextrocardia |
OMIM:606217 |
Immunodeficiency 110 With Lymphoproliferation |
|
Atrial septal defect |
OMIM:614868 |
Hardikar Syndrome |
|
Thoracolumbar scoliosis, Patent foramen ovale, Cleft soft palate, Short stature, Ventricular sept... |
OMIM:301068 |
Neuroocular Syndrome |
|
Tapered finger, Torus palatinus, Pectus excavatum, Scapular winging, Deep palmar crease, Sacral d... |
OMIM:619539 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Underdeveloped nasal alae, Rhinitis, Everted upper lip vermilion, Microdontia, Hyp... |
OMIM:305100 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Hypoxemia, Respiratory distress, Prominent sternum |
ORPHA:2140 |
Loeys-Dietz Syndrome 3 |
|
Ventricular hypertrophy, Pneumothorax, Hip osteoarthritis, Intervertebral disc degeneration, Bifi... |
OMIM:613795 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Wide nasal bridge, Smooth philtrum, Depressed nasal tip, Talipes equinovarus, Genu valgum, Osteom... |
OMIM:619475 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Aplasia/Hypoplasia... |
OMIM:192445 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Anal atresia, Tracheoesophageal fistula, Downturned corners of mouth, ... |
ORPHA:1780 |
Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Truncus arteriosus, Short stature, Bicornuate uterus, Wide nasal bridg... |
OMIM:601186 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Short stature, Dermal translucency, Atrial septal defect, Joint hypermobilit... |
OMIM:619115 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Flexion contracture, Dilated cardiomyopathy, Respiratory distress, Abn... |
ORPHA:367 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Hypogonadism, Jaundice, S... |
ORPHA:231222 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Ventricular septal defect, Volvulus, Macrocephaly, Clinodactyly of the 5th fi... |
OMIM:616682 |
Kagami-Ogata Syndrome |
|
Coat hanger sign of ribs, Bell-shaped thorax, Coxa valga, Thoracic hypoplasia, Micrognathia, Limi... |
ORPHA:254519 |
Pachyonychia Congenita |
|
Angular cheilitis, Natal tooth, Advanced eruption of teeth, Palmoplantar hyperhidrosis, Respirato... |
ORPHA:2309 |
Nievergelt Syndrome |
|
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Mesomelic short stature, Mesomelia, Ta... |
OMIM:163400 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Short stature, Optic atrophy, Atrial septal defect, Situs inversus tot... |
OMIM:249270 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent forearm, Absent tibia, Short hallux, Split foot, Split... |
OMIM:119100 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Flexion contracture, High palate, Ventricular septal defect, Aspiration, Apnea, G... |
OMIM:614653 |
Gracile Bone Dysplasia |
|
Short stature, Death in infancy, Ankyloglossia, Slender long bone, Flared metaphysis, Decreased s... |
OMIM:602361 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Leukoencephalopathy, Short stature, Bicuspid aortic valve, Atrial septal defect, Growth delay, In... |
OMIM:617744 |
Keppen-Lubinsky Syndrome |
|
Underdeveloped nasal alae, Respiratory insufficiency, Flexion contracture, High palate, Narrow na... |
OMIM:614098 |
3-Methylglutaconic Aciduria, Type V |
|
Optic atrophy, Decreased testicular size, Noncompaction cardiomyopathy, Atrial septal defect, Dil... |
OMIM:610198 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor, Talipes equinovarus, Microcephaly |
OMIM:150260 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Respiratory distress, Hypertrophic cardiomyopathy, Cardiomegaly, Card... |
OMIM:212140 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Mesomelic short stature, Madelung deformity |
OMIM:127350 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Respiratory insufficiency, Intrauterine growth retardation, Ventricular septal defect |
OMIM:617021 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short stature, Primary microcephaly, Diffuse cerebral atrophy, Short nose, Secondary microcephaly... |
ORPHA:289266 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Patent foramen ovale, Apneic episodes in infancy, Atrial septal de... |
OMIM:619967 |
Oromandibular Dystonia |
|
Abnormal mandible morphology, Abnormal lip morphology, Respiratory distress, Abnormality of the t... |
ORPHA:93958 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Short stature, Jaundice, Macroglossia, Short nose, Depressed nasal bridge, Concave nasal ridge, A... |
OMIM:613038 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Enamel hypoplasia, Esophageal stricture, Pneumothorax, Abnormal fingertip morph... |
ORPHA:79404 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epiphyseal stippling, Bruising susceptibility, Short nose, Epistaxis, Ecchymosis, Short distal ph... |
OMIM:277450 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Wide anterior fontanel, Optic atrophy, Death in infancy, Scaling skin, Micro... |
OMIM:609180 |
Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Intervertebral disc degeneration, Bifid uvula, Pectus excavatum, Cleft p... |
ORPHA:284984 |
Fanconi Anemia, Complementation Group U |
|
Aplasia of the 1st metacarpal, Absent thumb, Hypoplasia of the radius, Absent scaphoid, Growth de... |
OMIM:617247 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Wide nasal bridge, Esophageal atresia, Bilateral talipes equino... |
OMIM:614083 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Familial Nasal Acilia |
|
Bronchiectasis, Chronic sinusitis, Respiratory distress, Chronic rhinitis, Recurrent upper respir... |
ORPHA:922 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Ventricular septal defect, Shawl scrotum, Clubbing, Hypospadias, Growth delay, S... |
OMIM:600460 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress... |
ORPHA:91359 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Retrognathia, Cleft soft palate, Bifid uvula, Bifid uterus, Cleft palate, Unilateral cleft lip |
ORPHA:2736 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Hypoplastic labia majora, Hypoplasia of penis, Polymicrogyria, Intesti... |
ORPHA:2328 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Abnormal cerebral white matter morphology, Death in childhood, Microcephaly, Pallor |
OMIM:246450 |
Truncus Arteriosus |
|
Cyanosis, Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pul... |
ORPHA:3384 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Hyperintensity of cerebral white matter on MRI, Breathing dysregulation, Pate... |
ORPHA:438213 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar hemisphere hypoplasia, Hypoplasia of the brainstem, Ventricular septal defect, Short s... |
OMIM:618325 |
Tularemia |
|
Oral ulcer, Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, C... |
ORPHA:3392 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
High palate, Long philtrum, Clinodactyly of the 5th finger, Apnea, Secondary microcephaly, Thin v... |
OMIM:618056 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Hypoxemia, Clubbing, Crackles, Restrictive ventilatory defect, Dyspnea, Cough, Decrease... |
ORPHA:747 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Cyanosis, Supracardiac total anomalous pulmonary venous connection, Increased anterioposterior di... |
ORPHA:99125 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets, Short stature, Pallor |
OMIM:611590 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Ventricular septal defect, Wide nasal bridge, Microretrognathia, Joint hypermobility... |
OMIM:619418 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Cerebellar hypoplasia, Porencephalic cyst, Atrial septal defect, Situs inversus totalis, Tetralog... |
OMIM:601322 |
Intellectual Developmental Disorder With Neuropsychiatric Features |
|
Thin vermilion border, Depressed nasal bridge, Smooth philtrum |
OMIM:617532 |
Absence Of The Pulmonary Artery |
|
Pulmonary arterial hypertension, Patent foramen ovale, Hypocapnia, Cyanosis, Truncus arteriosus, ... |
ORPHA:980 |
Osteopetrosis With Renal Tubular Acidosis |
|
Prominence of the zygomatic bone, Optic atrophy, Micrognathia, Pectus excavatum, Osteopetrosis, R... |
ORPHA:2785 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Pericardial effusion, Macroglossia, Respiratory distress, Pleural effusion, Hypertrophi... |
OMIM:261740 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukoencephalopathy, Jaundice, Dilated cardiomyopathy, Pallor, Apnea, Microcephaly, Tachypnea |
ORPHA:20 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Microcephaly, Sudden episodic apnea, Cardiomyopathy |
ORPHA:159 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperlordosis, Ganglioneuromatosis, Aganglionic megacolon, Reduced subcutaneous adipose tissue, J... |
ORPHA:653 |
Trichohepatoenteric Syndrome 1 |
|
Wide nose, Long philtrum, Wide mouth, Villous atrophy, Short stature, Avascular necrosis of the c... |
OMIM:222470 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Bdv Syndrome |
|
Micrognathia, Atrial septal defect, Delayed puberty, Cryptorchidism, Hypogonadotropic hypogonadis... |
OMIM:619326 |
Singleton-Merten Syndrome 1 |
|
Osteolytic defects of the phalanges of the hand, Hip subluxation, Subvalvular aortic stenosis, Co... |
OMIM:182250 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent foramen ovale, Mild microcephaly, Ventricular septal defect, Hypoplastic tricuspid valve, ... |
ORPHA:2255 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Microcephaly, Growth delay, Exertional dyspnea |
OMIM:250800 |
Waldenström Macroglobulinemia |
|
Respiratory insufficiency, Malabsorption, Purpura, Cutis marmorata, Pallor, Epistaxis, Pleural ef... |
ORPHA:33226 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hypoplasia of the brainstem, Short nasal bridge, Aplasia/Hypoplasia of the corpus callosum, Optic... |
OMIM:253280 |
Plummer-Vinson Syndrome |
|
Esophageal web, Tongue atrophy, Glossitis, Pallor, Narrow mouth, Intra-oral hyperpigmentation, Ch... |
ORPHA:54028 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Enamel hypoplasia, Mandibular prognathia, High palate, Vesicovaginal fistula, Wide nasal bridge, ... |
OMIM:300896 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Pneumothorax, Finger joint ... |
OMIM:130050 |
Adenylosuccinase Deficiency |
|
Long philtrum, Wide mouth, Short nose, Thin upper lip vermilion, Growth delay, Smooth philtrum, A... |
OMIM:103050 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Cerebral cortical atrophy, Micrognathia, 2-3 toe cutaneous syndactyly, Short palm, Hyperextensibi... |
OMIM:614756 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Small hand, Short stature, Ventricular septal defect, Optic atrophy, Ventricular septal hypertrop... |
OMIM:614947 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Cyanosis |
OMIM:610773 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Difficulty in tongue movements, Hyperlordosis, Flexion contracture, Ex... |
ORPHA:365 |
Congenital Disorder Of Deglycosylation 1 |
|
Small hand, Central sleep apnea, Respiratory distress, Decreased sensory nerve conduction velocit... |
OMIM:615273 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Scimitar Syndrome |
|
Pulmonary arterial hypertension, Double outlet right ventricle, Mitral atresia, Pneumothorax, Tru... |
ORPHA:185 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure, Bruising susceptibility, Pallor |
ORPHA:3226 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Difficulty in tongue movements, Left ventricular hypertrophy, Macroglo... |
ORPHA:308552 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Respiratory distress, Ventricul... |
OMIM:115197 |
Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Abnormality of the upper limb, Osteomyelitis, Arthritis, Respiratory distress, ... |
ORPHA:36234 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Absent nares, Single naris, Hypogonadism, Hyposmia, External genital hypoplasia, Bifid uvula, Sub... |
ORPHA:2250 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... |
ORPHA:36238 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Convex nasal ridge, Microcephaly, Short nose |
OMIM:200130 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Growth delay, Optic atrophy, Respiratory distress |
ORPHA:289916 |
Avian Influenza |
|
Pneumothorax, Productive cough, Hypoxemia, Respiratory distress, Miscarriage, Pleural effusion, D... |
ORPHA:454836 |
Townes-Brocks Syndrome |
|
Abnormal cardiac septum morphology, Toe syndactyly, Absent toe, Abnormal rib morphology, Abnormal... |
ORPHA:857 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Global brain atrophy, Cerebral cortical atrophy, Primary... |
ORPHA:457351 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... |
ORPHA:348 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Cerebral atrophy |
ORPHA:306550 |
Acquired Methemoglobinemia |
|
Dyspnea, Cyanosis, Hypoxemia, Respiratory distress |
ORPHA:464453 |
Serkal Syndrome |
|
Ventricular septal defect, Sex reversal, Malrotation of small bowel, Abnormal penis morphology, H... |
ORPHA:139466 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Pallor |
ORPHA:163596 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Ventricular septal defect, Short finger, Diffuse cerebral atrophy, Broad fing... |
ORPHA:1934 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Micrognathia, Hydrocele testis, Short nose, Aplasia of the ... |
OMIM:266810 |
Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Optic disc coloboma, Single naris, High palate, Long philtru... |
ORPHA:141099 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Underdeveloped nasal alae, Wide nose, Ventricular septal defect, Micrognathia, Ankyloglossia, Sup... |
OMIM:619525 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius |
OMIM:602200 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Growth delay, Hypogonadism, Pallor |
OMIM:615234 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Jaundice, Skin ulcer, Pallor, Gout, Growth delay |
ORPHA:822 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Wide anterior fontanel, Jaundice, Macrocephaly, Respiratory distress, Depressed nasal bridge, Pac... |
OMIM:231680 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Recurrent aphthous stomatitis, Arthritis, Purpura, Acrocyanosis, Limitation of joint mobility, Gr... |
ORPHA:343 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Ambiguous genitalia, Abnormality of female ex... |
ORPHA:920 |
Infantile Krabbe Disease |
|
Abnormal periventricular white matter morphology, Decreased head circumference, Hypointensity of ... |
ORPHA:206436 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
2-3 toe syndactyly, Patent foramen ovale, Cutaneous photosensitivity, High palate, Tapered finger... |
OMIM:618653 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Patent foramen ovale, Tapered finger, Narrow nasal tip, Wide nasal bridge, Widely spaced teeth, M... |
ORPHA:477993 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... |
ORPHA:264675 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Hallux valgus, Finger joint hypermobility, Micrognathia, Pat... |
ORPHA:506358 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Respiratory insufficiency, Flexion contracture, Hypoplasia of the brainstem, Optic atrophy, Cereb... |
OMIM:253800 |
Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, Abnormal caudate nucleus morphology, Caudate atrophy, High, narrow p... |
ORPHA:209908 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Al-Gazali Syndrome |
|
Wrist flexion contracture, Recurrent fractures, Bilateral talipes equinovarus, Micrognathia, Recu... |
OMIM:609465 |
Oculopharyngodistal Myopathy 1 |
|
High palate, Aspiration, Respiratory distress, Dilated cardiomyopathy, Reduced forced vital capac... |
OMIM:164310 |
Chromosome 3Q29 Duplication Syndrome |
|
Wide nasal bridge, Macrocephaly, Short nose, Microcephaly, Multiple palmar creases, Bulbous nose |
OMIM:611936 |
Sotos Syndrome |
|
2-3 toe syndactyly, Flexion contracture, Increased head circumference, Congenital posterior ureth... |
ORPHA:821 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Optic atrophy, Tachypnea |
ORPHA:148 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Leukoencephalopathy, Cerebral cortical atrophy, Ventricular septal defect, Short stature, Coronar... |
OMIM:620024 |
Lymphedema-Distichiasis Syndrome |
|
Cleft upper lip, Ventricular septal defect, Kyphosis, Micrognathia, Chylothorax, Cleft palate, Te... |
OMIM:153400 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Patent foramen ovale, Ventricular septal defect, Valvular pulmonary stenosis, Mitral st... |
OMIM:212093 |
Vascular Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Gingivitis, Pneumothorax, Microdontia, Uterine rupture, Abnormal oral ... |
ORPHA:286 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia, Ventricular septal defect, Abnormal heart morpholo... |
ORPHA:254534 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Respiratory distress, Facial diplegia, Testicular atrophy, Cerebral atrophy |
OMIM:160900 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Hydrocele testis, Atrial septal defect, Thin upper lip vermilion, Depr... |
OMIM:601927 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Enterocolitis, Jejunal atresia, Ventricular septal defect, Death in infancy, D... |
OMIM:243150 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Cyanosis, Cerebral atrophy, Optic atrophy |
OMIM:261680 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Microcephaly, Atrial septal defect, Episodic tachypnea |
OMIM:615160 |
Diamond-Blackfan Anemia 8 |
|
Thick upper lip vermilion, Wide nasal bridge, Short stature, Short nose, Growth delay |
OMIM:612563 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Macrocephaly, Cryptorchidism, Increased overbite, Micropenis |
OMIM:618504 |
Dextrocardia |
|
Intestinal malrotation, Congenital hip dislocation, Meckel diverticulum, Abnormal reproductive sy... |
ORPHA:1666 |
Buerger Disease |
|
Skin ulcer, Acrocyanosis |
ORPHA:36258 |
Eisenmenger Syndrome |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Cyanosis, Bacterial endocarditis,... |
ORPHA:97214 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Short stature, Agenesis of corpus callosu... |
OMIM:309801 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Abnormal stomach morphology, Anal atresia, Duodenal stenosis... |
ORPHA:141127 |
Lymphatic Malformation 6 |
|
Short stature, Micrognathia, Hydrocele testis, Atrial septal defect, Pectus excavatum, Pleural ef... |
OMIM:616843 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Macrocephaly, Cutis marmorata, Short nose, Thin upper lip vermilion, Narrow mouth, Anteverted nar... |
OMIM:613735 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect, Short neck, Microcephaly, Short thumb, Postnatal growth retardation |
OMIM:610832 |
Unilateral Polymicrogyria |
|
Cyanosis, Perisylvian polymicrogyria, Epistaxis, Apnea, Abnormal heart morphology, Microcephaly, ... |
ORPHA:268943 |
Developmental And Epileptic Encephalopathy 90 |
|
Cerebral atrophy, Apneic episodes in infancy, Atrial septal defect |
OMIM:301058 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Short stature, Wide mouth, Hip dysplasia, Thick corpus callosum, Joint... |
OMIM:618846 |
Pmm2-Cdg |
|
Multiple joint contractures, Pericardial effusion, Pericarditis, Hypertrophic cardiomyopathy, Pro... |
ORPHA:79318 |
Aicardi-Goutières Syndrome |
|
Convex nasal ridge, Multiple joint contractures, Short stature, Arthritis, Porencephalic cyst, Ar... |
ORPHA:51 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Severe short stature, Concave nasal ridge, Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Cutis laxa, Bruising susceptibility, Kyphoscoliosis, Osteopenia, Talipes equin... |
OMIM:614557 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Tracheoesophageal fistula, Upper airway obstruction, Dyspnea, Cough, Stridor |
ORPHA:142 |
Hereditary Folate Malabsorption |
|
Cerebral calcification, Glossitis, Cheilitis, Pallor |
ORPHA:90045 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Kyphosis, Death in infancy, Jaundice, Respiratory distress, Cerebral a... |
OMIM:615512 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Pachygyria, Atrial septal defect |
OMIM:620094 |
Primary Hyperoxaluria |
|
Cardiomyopathy, Recurrent fractures, Optic atrophy, Acrocyanosis, Cutis marmorata, Generalized os... |
ORPHA:416 |
Fucosidosis |
|
Anterior beaking of lumbar vertebrae, Kyphosis, Acrocyanosis, Vascular skin abnormality, Cardiome... |
ORPHA:349 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Decreased nasal nitric oxide, Chronic sinusitis, Intestina... |
OMIM:619608 |
Prolactinoma |
|
Female hypogonadism, Hypogonadism, Pallor, Male hypogonadism, Delayed puberty, Osteopenia, Hypogo... |
ORPHA:2965 |
Aortic Arch Interruption |
|
Cyanosis, Double outlet right ventricle, Aortic valve atresia, Aortopulmonary window, Truncus art... |
ORPHA:2299 |
Primary Myelofibrosis |
|
Ecchymosis, Purpura, Petechiae, Pallor |
ORPHA:824 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Striae distensae, High palate, Pectus carinatum, Micrognathia, Bifid uvu... |
ORPHA:60030 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Aspiration, Cough, Dyspnea, Stridor, Neonatal respiratory distress |
ORPHA:2004 |
Heterotaxy, Visceral, 5, Autosomal |
|
Right atrial isomerism, Atrioventricular canal defect, Double outlet right ventricle, Ventricular... |
OMIM:270100 |
Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Cor... |
ORPHA:1330 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Right ventricular dilatation, Unro... |
ORPHA:99104 |
Johanson-Blizzard Syndrome |
|
Convex nasal ridge, Colonic diverticula, Urethrovaginal fistula, Septate vagina, Hypoplasia of th... |
OMIM:243800 |
Nipah Virus Disease |
|
Recurrent pharyngitis, Respiratory distress, Cough |
ORPHA:99825 |
Episodic Ataxia Type 1 |
|
Hand clenching, Kyphoscoliosis, Scoliosis, Respiratory distress |
ORPHA:37612 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Microcephaly |
ORPHA:927 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Pallor |
ORPHA:263455 |
Toxic Epidermal Necrolysis |
|
Intestinal perforation, Malabsorption, Skin ulcer, Respiratory distress, Tracheoesophageal fistul... |
ORPHA:537 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Increased susceptibility to fractures, Peptic ulcer, Pallor, Flushing, Osteoporosis, Urticaria |
ORPHA:98849 |
Letterer-Siwe Disease |
|
Jaundice, Dyspnea, Stomatitis, Pallor |
OMIM:246400 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Esophageal atresia, Tracheoesophageal fistula, Hypospadias, Intrauteri... |
ORPHA:1923 |
Hereditary Angioedema Type 1 |
|
Abnormal uvula morphology, Dermatographic urticaria, Intestinal edema, Respiratory distress, Abno... |
ORPHA:100050 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Macrocephaly, Atrial septal defect, Upper limb asy... |
ORPHA:90308 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect |
OMIM:611363 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea, Abnormal mitral valve morphology, ... |
ORPHA:99103 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Long philtrum, Thin corpus callosum, Macrocephaly, Diffuse cerebral atrophy, Short nose, Growth d... |
OMIM:252160 |
Left Ventricular Noncompaction 1 |
|
Ventricular septal defect, Left ventricular hypertrophy, Noncompaction cardiomyopathy, Left ventr... |
OMIM:604169 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Scrotal hypospadias, Ambiguous genitalia, Bifid scrotum, Hypospadias, Male pseudohermap... |
OMIM:250790 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Abnormal palate morphology, Thick cerebral corte... |
ORPHA:261183 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Clinodactyly of the 2nd finger, Hyperlordosis, Long philtrum, Wide nasal bri... |
ORPHA:73223 |
Paganini-Miozzo Syndrome |
|
Malar flattening, Downturned corners of mouth, Mandibular prognathia, Thin vermilion border |
OMIM:301025 |
Diphallia |
|
Duplicated colon, Absent thumb, Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transpositio... |
ORPHA:227 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Short stature, Jaundice, Atrial septal defect, Growth delay, Micro... |
ORPHA:1667 |
Acute Lung Injury |
|
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:178320 |
Japanese Encephalitis |
|
Distal upper limb muscle weakness, Cerebral edema, Stiff neck, Abnormal substantia nigra morpholo... |
ORPHA:79139 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent foramen ovale, Proportionate short stature, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Autoimmune Hemolytic Anemia |
|
Dyspnea, Pallor |
ORPHA:98375 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Pallor |
OMIM:616307 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Cyanosis, Encephalomalacia, Stippled ca... |
ORPHA:51608 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Exertional dyspnea, Pallor |
ORPHA:90033 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Cerebellar hypoplasia, Proboscis, Absent nasal septal cartilage, Bifid... |
OMIM:157170 |
Lujo Hemorrhagic Fever |
|
Cerebral edema, Stiff neck, Rhinitis, Purpura, Respiratory distress, Ecchymosis, Crackles, Myocar... |
ORPHA:319213 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Ethylene Glycol Poisoning |
|
Cyanosis, Cerebral edema, Facial palsy, Abnormal pattern of respiration, Gastritis, Episodic resp... |
ORPHA:31826 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Atrophic gastritis, Villous atrop... |
OMIM:619573 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Exertional dyspnea, Pallor |
ORPHA:90036 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cranial nerve compression, Flushing, Pallor |
ORPHA:276621 |
Arnold-Chiari Malformation Type Ii |
|
Cyanosis, Hand muscle atrophy, Apnea, Partial agenesis of the corpus callosum, Cortical dysplasia... |
ORPHA:1136 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Ventricular septal defect, Tibial torsion, Long hallux, Tibi... |
ORPHA:500095 |
Pagod Syndrome |
|
Ambiguous genitalia, Short stature, Abnormal testis morphology, Death in infancy, Optic atrophy, ... |
ORPHA:991 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Convex nasal ridge, High palate, Short stature, Wide mouth, Short nose, Gout, Hypospadias, Depres... |
OMIM:300661 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Exertional dyspnea, Pallor |
ORPHA:90037 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Wide mouth, Wide nasal bridge, Asthma, Nasal flaring, Thin upper lip vermilion, Downturned corner... |
ORPHA:466943 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Bi... |
OMIM:107480 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic valve steno... |
OMIM:614980 |
Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis, Mesomelia |
OMIM:156232 |
Developmental And Epileptic Encephalopathy 102 |
|
Situs inversus totalis, Microcephaly, Atrial septal defect |
OMIM:619881 |
Hypermobile Ehlers-Danlos Syndrome |
|
Gingivitis, Malabsorption, Microdontia, Hip dislocation, Abnormality of the wrist, Limitation of ... |
ORPHA:285 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea |
OMIM:267450 |
Q Fever |
|
Endocarditis, Osteomyelitis, Pericardial effusion, Purpura, Respiratory distress, Pericarditis, P... |
ORPHA:781 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor, Agenesis of corpus callosum |
OMIM:207950 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Abnormal globus pallidus morphology, Cardiomyopathy |
OMIM:251000 |
Slc39A8-Cdg |
|
Knee flexion contracture, Cerebral cortical atrophy, Short stature, Cutaneous syndactyly of toes,... |
ORPHA:468699 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Joint stiffness, Acrocyanosis |
ORPHA:2400 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Perineal fistula, Anal atresia, Oligodactyly, Ectrodactyly, Rectovagina... |
ORPHA:3016 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
High palate, Short stature, Stomatitis, Glossitis, Atrial septal defect, Tracheoesophageal fistul... |
OMIM:277380 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Exer... |
ORPHA:2041 |
Developmental And Epileptic Encephalopathy 68 |
|
Flexion contracture, Cerebral cortical atrophy, Respiratory distress, Microcephaly |
OMIM:618201 |
Cutis Laxa, Autosomal Dominant 1 |
|
Convex nasal ridge, Ventricular septal defect, Long philtrum, Bronchiectasis, Cutis laxa, Emphyse... |
OMIM:123700 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect, Proboscis, Macroc... |
OMIM:619895 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Ambiguous genitalia, Cor triatrium sinister, Wide nasal bridge, Pericardial e... |
OMIM:618280 |
Non-Functioning Pituitary Adenoma |
|
Female hypogonadism, Macroorchidism, Hypogonadism, Pallor, Male hypogonadism, Macroorchidism, pos... |
ORPHA:91349 |
Mpdu1-Cdg |
|
Wide anterior fontanel, Optic atrophy, Prominent frontal sinuses, Scaling skin, Thin vermilion bo... |
ORPHA:79323 |
Cold Agglutinin Disease |
|
Back pain, Pallor |
ORPHA:56425 |
Encephalopathy, Ethylmalonic |
|
Focal T2 hyperintense basal ganglia lesion, Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
Meacham Syndrome |
|
Neonatal death, Death in childhood, Ventricular septal defect, Cardiac total anomalous pulmonary ... |
OMIM:608978 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Cyanosis, Inlet ventricular septa... |
OMIM:600309 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Glossitis, Pallor |
ORPHA:35858 |
Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Aspiration, Decreased amplitude of sensory a... |
OMIM:618733 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cyanosis, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Reduced FE... |
OMIM:187300 |
Digeorge Syndrome |
|
Ovarian cyst, High palate, Truncus arteriosus, Short stature, Ventricular septal defect, Asthma, ... |
OMIM:188400 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Global brain atrophy, Death in infancy, Respiratory distress, Apnea, Microcephaly, Hypo... |
OMIM:618426 |
Irida Syndrome |
|
Abnormal intestine morphology, Pallor |
ORPHA:209981 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect, Thin corpus callosum, Diffuse cerebral atrophy, Growth delay, Cryptorc... |
OMIM:619908 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Short nose, Short neck, Micromelia, Postaxial hand polydactyly, Hypoplasia of ... |
OMIM:200995 |
Rodrigues Blindness |
|
Ectodermal dysplasia, Short stature, Nasal flaring, Narrow nasal bridge, Tooth malposition |
OMIM:268320 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Cyanosis, Aortopulmonary window, Ventricular septal defect, Exer... |
ORPHA:99050 |
Congenital Enterovirus Infection |
|
Pericardial effusion, Respiratory distress, Pleural effusion, Myocarditis, Cardiomyopathy |
ORPHA:292 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Azoospermia, Growth delay, Hypogonadism, Pallor |
ORPHA:300298 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tetralogy of Fallot, Abnormal heart morphology, Atrial septal defect |
OMIM:614954 |
Craniofacial Microsomia |
|
Transverse facial cleft, Cleft upper lip, Genu valgum, Vertebral hypoplasia, Wide mouth, Block ve... |
OMIM:164210 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Sex reversal, Hypospadias, Cleft lip, Ovotestis, Cleft palate, Intraut... |
OMIM:611812 |
Tsh-Secreting Pituitary Adenoma |
|
Female hypogonadism, Hypogonadism, Pericardial effusion, Pallor, Male hypogonadism, Delayed puber... |
ORPHA:91347 |
Slc35A1-Cdg |
|
Pneumonia, Hypoxemia, Respiratory distress, Subcutaneous hemorrhage |
ORPHA:238459 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Intrauterine growth retardation, Pallor |
OMIM:266200 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Intestinal perforation, Pleural empyema, Intussusception, Pallor, Pneumonia, Dy... |
ORPHA:544482 |
Leigh Syndrome |
|
Encephalomalacia, Neuronal loss in basal ganglia, Ventricular septal defect, Multiple joint contr... |
ORPHA:506 |
Primary Dystonia, Dyt4 Type |
|
Open mouth, Movement abnormality of the tongue, Respiratory distress, Kyphoscoliosis |
ORPHA:98805 |
Myelofibrosis |
|
Purpura, Myelofibrosis, Pallor |
OMIM:254450 |
Cryptococcosis |
|
Cerebral edema, Cerebral cortical atrophy, Osteomyelitis, Prostatitis, Respiratory distress, Pleu... |
ORPHA:1546 |
Beta-Ketothiolase Deficiency |
|
Pallor, Cough, Tachypnea |
ORPHA:134 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Short stature, Short neck, Cryptorchidism, Pulmonic stenosis |
OMIM:616559 |
1P21.3 Microdeletion Syndrome |
|
Wide mouth, Micrognathia, Macrocephaly, Short nose, Joint hypermobility, Broad nasal tip |
ORPHA:293948 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Bardet-Biedl Syndrome 20 |
|
2-3 toe syndactyly, Asthma, Preaxial foot polydactyly, Bilateral cryptorchidism, Atrial septal de... |
OMIM:619471 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Left atrial isomerism, Intestinal m... |
OMIM:605376 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Acrocyanosis, Hypogeusia, Scoliosis, Growth delay, Orthostatic hypotension, Decreased sensitivity... |
OMIM:223900 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Gingival bleeding, Short stature, Pallor |
ORPHA:98870 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Cerebellar hypoplasia, Porencephalic cyst... |
OMIM:613001 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Increased susceptibility to fractures, Osteomyelitis leading to amputation due to slow healing fr... |
OMIM:256810 |
Listeriosis |
|
Endocarditis, Septic arthritis, Back pain, Stiff neck, Osteomyelitis, Jaundice, Respiratory distr... |
ORPHA:533 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Wide nose, Long philtrum, Wide nasal bridge, Optic atrophy, Skin ulcer, Atrial septal defect, Ple... |
ORPHA:2526 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cranial nerve compression, Flushing, Pallor |
ORPHA:29072 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Hypoplasia of the frontal bone, Cleft upper lip, Bifid uvula, Bifid no... |
OMIM:229400 |
Shprintzen Omphalocele Syndrome |
|
Wide nasal bridge, Short stature, Kyphosis, Anal atresia, Short columella, Scoliosis, Narrow ches... |
OMIM:182210 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95512 |
Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea... |
ORPHA:141083 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Short stature, Macrocephaly, Short philtrum, Joint hypermobility, Depr... |
OMIM:619575 |
Familial Dysautonomia |
|
Recurrent fractures, Optic atrophy, Acrocyanosis, Osteolysis, Growth delay, Scoliosis, Orthostati... |
ORPHA:1764 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Tachypnea, Respiratory distress |
ORPHA:79242 |
Dend Syndrome |
|
Long philtrum, Short nose, Downturned corners of mouth, Clinodactyly of the 4th finger, Anteverte... |
ORPHA:79134 |
Von Hippel-Lindau Disease |
|
Myocarditis, Back pain, Epididymal cyst, Pallor, Papilledema, Papillary cystadenoma of the epidid... |
ORPHA:892 |
Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Acrocyanosis, Petechiae |
ORPHA:51188 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor |
ORPHA:95513 |
Aregenerative Anemia |
|
Dyspnea, Bruising susceptibility, Pallor |
ORPHA:101096 |
Thyroid Lymphoma |
|
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor |
ORPHA:97285 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperventilation, P... |
OMIM:618775 |
Tay-Sachs Disease |
|
Pallor, Aspiration |
OMIM:272800 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Pulmonary arterial hypertension, Palate telangiectasia, Cyanosis, Gastrointestinal telangiectasia... |
OMIM:600376 |
Developmental And Epileptic Encephalopathy 18 |
|
Thick corpus callosum, Atrial septal defect |
OMIM:615476 |
Sheehan Syndrome |
|
Orthostatic hypotension, Dry skin, Pallor |
ORPHA:91355 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Micrognathia, Protein-losing enteropathy, Pneumonia, Macrocephaly at... |
OMIM:619991 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Abnormal caudate nucleus morphology, Pallor |
ORPHA:95613 |
Alström Syndrome |
|
Gingivitis, Recurrent sinusitis, Myocardial fibrosis, Dorsocervical fat pad, Oligospermia, Tooth ... |
ORPHA:64 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Ischemic stroke, Arthritis, Palpable purpura, Acrocyanosis, Vasculitis in... |
ORPHA:48435 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Childhood Absence Epilepsy |
|
Hyperventilation, Pallor |
ORPHA:64280 |
Dermatomyositis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cutaneous photosensitivity, Arthritis... |
ORPHA:221 |
Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Long hallux, Mitral valve prolapse, Macrocephaly, Macroglossia, Bowing... |
OMIM:617107 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Hypodontia, Microdontia, Atrial septal defect, Concave nasal ridge, Malar flattening, Cerebellar ... |
OMIM:602482 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Long philtrum, Macrocephaly, Short nose, Growth delay, Microcephaly, Cerebral atrophy, Hypoplasia... |
OMIM:252150 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Mitochondrial swelling |
OMIM:615595 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Short stature, Macroglossia, Atrial septal defect, Growth delay, Microcephaly |
ORPHA:93947 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Dysplastic aortic valve, Bicuspid aortic valve, Central cyanosis, Pu... |
OMIM:620067 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Respiratory distress, Atrial septal defect, Pleural effusion, Chylothorax |
OMIM:617300 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Prominent nose, Respiratory acidosis, Respiratory distress, Fragile skin, Narrow mouth, Microceph... |
OMIM:614748 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis, Pyoderma gangrenosum |
ORPHA:49566 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent upper and lower respiratory tract infections, Pallor |
ORPHA:331206 |
Diamond-Blackfan Anemia 12 |
|
Triphalangeal thumb, Ventricular septal defect |
OMIM:615550 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Steatorrhea, Pallor, Erythema, Death in childhood |
OMIM:557000 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Duodenal atresia, Intestinal atresia, Ventricular septal defect |
ORPHA:3405 |
Oculoectodermal Syndrome |
|
Wide nasal bridge, Giant cell granuloma of mandible, Macrocephaly, Atrial septal defect, Hypertro... |
OMIM:600268 |
Eosinophilic Fasciitis |
|
Arthritis, Acrocyanosis |
ORPHA:3165 |
Mercury Poisoning |
|
Interstitial pneumonitis, Respiratory distress, Abnormal cerebral white matter morphology, Dyspne... |
ORPHA:330021 |
Craniofacial-Deafness-Hand Syndrome |
|
Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed nasal bridge, Ulnar deviation of t... |
OMIM:122880 |
Nocardiosis |
|
Endocarditis, Pneumothorax, Osteomyelitis, Productive cough, Respiratory distress, Emphysema, Per... |
ORPHA:31204 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Malabsorption, Interstitial pneumonitis, Respiratory distress, Abnormal intestine ... |
ORPHA:37042 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Syndromic Diarrhea |
|
Ventricular septal defect, Short stature, Villous atrophy, Wide nasal bridge, Bicuspid aortic val... |
ORPHA:84064 |
Plague |
|
Endocarditis, Enterocolitis, Abnormality of the elbow, Arthritis, Skin ulcer, Glossitis, Respirat... |
ORPHA:707 |
Isolated Arrhinia |
|
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Respiratory distre... |
ORPHA:1134 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left ventricular hypertrophy, Atrial septal defect, Hypertrophic cardiomyopathy, Subaortic ventri... |
OMIM:612098 |
Meacham Syndrome |
|
Abnormal fallopian tube morphology, Ambiguous genitalia, Conotruncal defect, Ventricular septal d... |
ORPHA:3097 |
Alagille Syndrome 2 |
|
Tetralogy of Fallot, Pulmonic stenosis, Atrial septal defect, Long nose |
OMIM:610205 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Penile Agenesis |
|
Ambiguous genitalia, Absent penis, Ventricular septal defect, Urethral fistula, Anal atresia, Atr... |
ORPHA:49 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor, Exertional dyspnea |
ORPHA:86839 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Jaundice, Prolonged neonatal jaundice, Pallor |
OMIM:300908 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Dilated cardiomyopathy, Apnea, Hypertrophic cardiomyopathy, Focal T2 hyperintense ... |
ORPHA:255210 |
Meckel Syndrome, Type 7 |
|
Atrial septal defect, Postaxial foot polydactyly, Situs inversus totalis, Aortic valve stenosis, ... |
OMIM:267010 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Aortic Valve Disease 3 |
|
Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect |
OMIM:618496 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Ventricular hypertrophy, Ventricular septal defect, Pulmonary arterial hypertension |
ORPHA:369929 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arterial hypertension, Narrow nasal ridge, Reduced subcutaneous adipose tissue, Decreas... |
OMIM:606721 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return, Atrial septal defect |
OMIM:614433 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Petechiae, Respiratory distress, Ecchymosis, Epistaxis, Pleural effusion, Dyspnea, Cou... |
ORPHA:340 |
Cocaine Intoxication |
|
Intestinal perforation, Pneumothorax, Ischemic stroke, Respiratory distress, Hyperventilation, Co... |
ORPHA:90068 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Intestinal perforation, Rhinitis, Abnormality of the anus, Vaginal stricture, Oral synechia, Vagi... |
ORPHA:95455 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Pallor |
OMIM:616959 |
Biotinidase Deficiency |
|
Optic atrophy, Respiratory distress, Apnea, Optic neuropathy, Hyperventilation |
ORPHA:79241 |
Myasthenia Gravis |
|
Acrocyanosis, Dyspnea, Rheumatoid arthritis |
ORPHA:589 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Elliptocytosis 1 |
|
Jaundice, Pallor |
OMIM:611804 |
Transketolase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Abnormal heart morphology,... |
ORPHA:488618 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Jaundice, Pallor |
OMIM:194380 |
Diamond-Blackfan Anemia 5 |
|
Hypospadias, Ventricular septal defect, Short stature |
OMIM:612528 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Atrial septal defect, Intestinal malrotation, Periventricular wh... |
OMIM:613834 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Palate telangiectasia, Ischemic stroke, Nasal mucosa telangiectasia, Spontaneous, recur... |
OMIM:610655 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... |
OMIM:615474 |
Colchicine Poisoning |
|
Cardiorespiratory arrest, Myocarditis, Respiratory distress |
ORPHA:31824 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Growth delay, Anemic pal... |
ORPHA:329971 |
Inhalational Anthrax |
|
Dyspnea, Respiratory distress |
ORPHA:247257 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Diamond-Blackfan Anemia 4 |
|
Atrial septal defect, Growth delay, Short stature |
OMIM:612527 |
Peroxisome Biogenesis Disorder 4B |
|
Optic atrophy, Macrocephaly, Short nose, Single transverse palmar crease, Decreased nerve conduct... |
OMIM:614863 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Jaundice, Prolonged neonatal jaundice, Respiratory distress |
OMIM:274150 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Increased bone mineral density, Acrocyanosis, Cutis marmorata, Optic neuropathy, P... |
OMIM:259900 |
Ebstein Malformation Of The Tricuspid Valve |
|
Respiratory insufficiency, Imperforate tricuspid valve, Abnormal cardiac septum morphology, Ebste... |
ORPHA:1880 |
Craniorachischisis |
|
Bifid sternum, Anencephaly, Anal atresia |
ORPHA:63260 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Intrauterine growth retardation, Death in infancy |
OMIM:617156 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Atrial septal defect, Intestinal malrotation, Situs inversus totalis, Aortic valve stenosis, Neon... |
OMIM:208540 |
Gitelman Syndrome |
|
Pericardial effusion, Cerebral calcification, Respiratory distress, Gout, Delayed puberty |
ORPHA:358 |
Phace Association |
|
Horner syndrome, Ventricular septal defect, Optic atrophy, Cerebellar hypoplasia, Optic nerve hyp... |
OMIM:606519 |
Goodpasture Syndrome |
|
Cyanosis, Exertional dyspnea, Tachypnea, Pallor, Crackles, Restrictive ventilatory defect, Cough,... |
OMIM:233450 |
Renal Agenesis |
|
Ventricular septal defect, Anal atresia, Absent vas deferens, Aplasia/hypoplasia of the uterus, T... |
ORPHA:411709 |
Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Respiratory distress, Cortical tubers, Cortical dysplasia, Respiratory failu... |
ORPHA:805 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Rectoperineal fistula, Hypoplastic left heart, A... |
OMIM:618748 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Palmoplantar keratoderma, Growth delay, Ventricular septal defect |
OMIM:615508 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect |
OMIM:126320 |
Hypoplastic Left Heart Syndrome |
|
Mitral stenosis, Mitral atresia, Hypoplastic left heart, Atrial septal defect |
ORPHA:2248 |
Leptospirosis |
|
Jaundice, Respiratory distress, Pericarditis, Pleural effusion, Cough, Papilledema |
ORPHA:509 |
Kasabach-Merritt Syndrome |
|
Hypopnea, Purpura, Respiratory distress, Petechiae |
ORPHA:2330 |
Norrie Disease |
|
Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Optic atrophy, Uterine rupture, ... |
ORPHA:649 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Intestinal malrotation, Rectal abscess, Jejunoileal ulceration, Intest... |
ORPHA:436252 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Orotic Aciduria |
|
Ventricular septal defect, Atrial septal defect |
OMIM:258900 |
Ebstein Anomaly |
|
Ebstein anomaly of the tricuspid valve, Atrial septal defect |
OMIM:224700 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |