| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Congenital malformation of the great arteries, Polydactyly, Abnormal cardiac septum morphology, A... |
ORPHA:294975 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Pseudodiastrophic Dysplasia |
|
Rhizomelia, Elbow dislocation, Scoliosis, Phalangeal dislocation, Platyspondyly, Malar flattening... |
ORPHA:85174 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Phaver Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Epicanthus, Butterfly vertebrae, Abnormal... |
ORPHA:2876 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Gastroschisis, Hypoplastic left heart, Apla... |
ORPHA:2476 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Short thorax, Finger syndactyly, Kyphosis, Vertebral segmen... |
ORPHA:2311 |
| Orofaciodigital Syndrome Xviii |
|
Urinary incontinence, Genu valgum, Wide nasal bridge, Cervical ribs, Single transverse palmar cre... |
OMIM:617927 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Spina bifida, Mitral valve prolapse, Dermatoglyphic ridges abnorma... |
OMIM:211960 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Wide nasal bridge, Ventricular septal defect, Micrognathia, Short neck, Proximal plac... |
ORPHA:93267 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Lower limb undergrowth, Congenital diaphragmatic hernia, Horseshoe kidney... |
OMIM:613630 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Patent ductus arteriosus, Vertebral fusion, Double outlet right ventricle, Bilater... |
OMIM:618845 |
| Caudal Duplication |
|
Myelomeningocele, Spina bifida, Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormal... |
ORPHA:1756 |
| Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... |
OMIM:201000 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Retrognathia, Patent ductus arteriosus, Crossed fused renal ectopia, Ventricular septal defect, H... |
OMIM:618142 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Atrioventricular canal defect, Patent ductus arteriosus, Preaxial hand polyd... |
ORPHA:1120 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Renal cyst, Hypospadias, ... |
OMIM:231060 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Depressed nasal bridge, ... |
ORPHA:1918 |
| Acalvaria |
|
Spina bifida, Abnormal lung lobation, Hydrocephalus, Holoprosencephaly, Postaxial hand polydactyl... |
ORPHA:945 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
| Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Aplasia/Hypoplasia of the fibula, Finger sy... |
ORPHA:1263 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Abnormal vertebral morphology, Spina bifida occu... |
ORPHA:64754 |
| Miller-Dieker Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Short nose, Nephropathy, Anteverted nares, Omphalo... |
ORPHA:531 |
| Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, Micrognathia, Spina bifida occulta, 1-2 finger syndactyly, Abnormality of ... |
ORPHA:2437 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Upslanted palpebral fissure, Short thorax, Vertebral segmentation defect, Missing ... |
ORPHA:1797 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Abnormal sacrum morphology, Ab... |
ORPHA:2345 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Synophrys, Pulmonary hypoplasia, Pectus excavatum, Overlapping toe, Cutaneous syndactyly, Posteri... |
OMIM:618316 |
| Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Missing ribs, Hydrocephal... |
OMIM:220210 |
| Loeys-Dietz Syndrome 2 |
|
Ascending tubular aorta aneurysm, Aortic arch aneurysm, Camptodactyly, Ascending aortic dissectio... |
OMIM:610168 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Short distal phalanx of the ... |
OMIM:109400 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Epicanthus, Pulmonary hypoplasia, Pectus ... |
ORPHA:2990 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... |
ORPHA:90652 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Upslanted palpebral fissure, Coxa vara, Microtia, Vertebral segm... |
ORPHA:1988 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Marfan Syndrome |
|
Meningocele, Aortic tortuosity, Ascending tubular aorta aneurysm, Pulmonary artery dilatation, As... |
ORPHA:558 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Short femur, Holoprosenceph... |
OMIM:601357 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Short ribs, Micrognathia, Vertebral wedging, Missing ribs, Hydrocephalus, Pol... |
OMIM:617866 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Butterfly vertebrae, Posterior rib fusion, Pulmonary artery dilata... |
OMIM:265380 |
| Joubert Syndrome 18 |
|
Retrognathia, Ventricular septal defect, Arrhinencephaly, Camptodactyly, Renal cyst, Kyphoscolios... |
OMIM:614815 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Vertebral fusion, Short thorax, Myelomeningocele, Bell-sh... |
OMIM:613686 |
| Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Encephalocele, Ventricular septal defect, Renal dysplasia, Anenc... |
ORPHA:1335 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Ventricular septal defect, Short ribs, Hy... |
OMIM:617895 |
| Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis,... |
ORPHA:93320 |
| Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Wide nasal bridge, Abnormal cardiac septum morphology, Renal ... |
OMIM:615583 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Synophrys, Recurrent sinusitis, Pectus excavatum, Overlapping toe, Short neck, Postax... |
OMIM:213980 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Kyphosis, Abnormal mitral valve morphology, Abnormality of the pulmona... |
ORPHA:1354 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Hypospadias, Spinal dysraphism |
ORPHA:3176 |
| C Syndrome |
|
Patent ductus arteriosus, Renal cortical cysts, Ventricular septal defect, Short metacarpal, Wide... |
OMIM:211750 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, 2-3 toe syndactyly, Choanal stenosis, Narrow nasal ridge, Renal dysplasia, Cli... |
OMIM:236500 |
| Trisomy 1Q |
|
Wide nose, Camptodactyly of finger, Patent ductus arteriosus, Multicystic kidney dysplasia, Conge... |
ORPHA:261344 |
| Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... |
OMIM:173800 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Postaxial hand polydactyly, Omp... |
OMIM:603194 |
| Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... |
OMIM:155050 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Abnormal vertebral morphology, Short nose, Short neck, Anteverted nares |
ORPHA:2015 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Spinal dysraphism, Delayed phalangeal epiphyseal ossification, Flat capital femoral epiphysis, Ca... |
OMIM:603546 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal dysplasia, Prune belly, Cervical ribs, ... |
OMIM:601389 |
| Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Wide nasal bridge, Abnormality of the fifth metatarsal bone, To... |
OMIM:311300 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Sacral dimple, Short toe, Dental malocclusion, Mandibular prognathia, Camptodactyly of finger, Ha... |
ORPHA:1327 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Epicanthus, Synophrys, Clinodactyly of the 5th finge... |
ORPHA:3268 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Patent ductus arteriosus, Flexion contracture, Diastasis recti, Coxa valga, Ventric... |
OMIM:608149 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae, Recurre... |
OMIM:608681 |
| Jawad Syndrome |
|
Retrognathia, Absent fourth finger distal interphalangeal crease, Prominent nose, Hallux valgus, ... |
OMIM:251255 |
| Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Abnormal aortic morpholo... |
ORPHA:1926 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Vesicoureteral reflux, Coxa valga, Abnormal meta... |
ORPHA:2484 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Conductive hearing impairment, Multiple joint contractures, E... |
OMIM:265000 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Convex nasal ridge, Flexion contracture, Short long bone... |
OMIM:263210 |
| Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Choanal at... |
OMIM:607323 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... |
OMIM:277300 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Renal cortical cysts, Wide nasal bridge, 2-3 finger syndactyly, Toe synd... |
ORPHA:1692 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Preaxial foot po... |
ORPHA:380 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalocele, Mandibular progna... |
ORPHA:1908 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly o... |
ORPHA:2370 |
| Marfan Syndrome |
|
Flexion contracture, Pneumothorax, Ascending tubular aorta aneurysm, Reduced subcutaneous adipose... |
OMIM:154700 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short nose, Sandal gap, Anteverted ... |
ORPHA:217340 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Hernia of the abdominal wall,... |
ORPHA:1277 |
| Limb Body Wall Complex |
|
Wide nasal bridge, Spina bifida occulta, Broad hallux, Aplasia of the proximal phalanges of the h... |
ORPHA:2369 |
| Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnor... |
ORPHA:64755 |
| Chromosome 9P Deletion Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th toe, Short neck, Choanal... |
OMIM:158170 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Epicanthus, Toe syndactyly, Elbow dislocation, Pectus excavatum, Short n... |
ORPHA:1507 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Downslanted palpebral fissures, Hernia, Epicanthus, Narrow chest, Vertebral segmentat... |
ORPHA:1394 |
| Meester-Loeys Syndrome |
|
Aortic root aneurysm, Downslanted palpebral fissures, Abnormal sternum morphology, Pulmonary arte... |
OMIM:300989 |
| Schisis Association |
|
Encephalocele, Spina bifida, Anencephaly, Renal agenesis, Congenital diaphragmatic hernia, Microm... |
ORPHA:63862 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, T... |
ORPHA:2839 |
| Constricting Bands, Congenital |
|
Encephalocele, Gastroschisis, Abnormal lung lobation, Hand polydactyly, Ectopia cordis, Abnormal ... |
OMIM:217100 |
| Aicardi Syndrome |
|
Bifid ribs, Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Spina bifida, Supernumerary r... |
OMIM:304050 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Short neck, Short palm, Narrow greater sciatic notch, P... |
OMIM:228520 |
| Vacterl/Vater Association |
|
Omphalocele, Multicystic kidney dysplasia, Preaxial hand polydactyly, Finger syndactyly, Abnormal... |
ORPHA:887 |
| Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Upslanted palpebral fissure, Aqueductal stenosis, Abnormally ossified vertebrae, Radial bowing, P... |
ORPHA:3035 |
| Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the urinary system, Renal hypoplasia/aplasia, Micrognathia, Vertebral segmentation... |
ORPHA:1834 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Retrognathia, Radial deviation of the hand, Mic... |
ORPHA:2756 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Downslanted palpebral fissures, Pulmonary artery aneurysm, Vascular tortuos... |
OMIM:614437 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Wide nasal bridge, Micrognathia, Bicuspid aortic valve, Clinodactyly, Camptodacty... |
OMIM:618529 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap... |
ORPHA:1166 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly... |
OMIM:605967 |
| Lethal Congenital Contracture Syndrome 10 |
|
Downslanted palpebral fissures, Cardiomegaly, Ventricular septal defect, Short long bone, Pulmona... |
OMIM:617022 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Encephalocele, Ventricular septal defect, Hydrocephalus, Re... |
OMIM:264480 |
| Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... |
ORPHA:2092 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Depressed nasal ridge, Pericardial effusion, Enlarged kidney, Polycys... |
OMIM:613885 |
| Cloacal Exstrophy |
|
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Hydroureter, Tal... |
ORPHA:93929 |
| Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Abnormal sternum morphology, Pulmonary artery ane... |
OMIM:609192 |
| Short-Rib Thoracic Dysplasia 12 |
|
Horizontal ribs, Epicanthus, Thoracic dysplasia, Pulmonary hypoplasia, Holoprosencephaly, Short n... |
OMIM:269860 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Abnormality of the orbital region, Carpal osteolysis, Abnormal han... |
ORPHA:371428 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst, Preaxial foot polydactyly, Postaxial hand polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Hyperlordosis, Genu valgum, Mandibular prognathia, Rhizomelia, Short metacarpal, Depre... |
ORPHA:2831 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele, Depressed nasal ridge, Short nose |
ORPHA:1906 |
| Vater/Vacterl Association |
|
Renal dysplasia, Patent urachus, Tethered cord, Abnormal rib morphology, Choanal atresia, Vesicou... |
OMIM:192350 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Polydactyly, Renal insufficiency |
OMIM:615987 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Increased intervertebral space, Short ribs, Short long bone, Coarse met... |
OMIM:618961 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Myelomeningocele, Missing ribs, Narrow pelvis bone... |
ORPHA:66637 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Patellar aplasia, Finger syndactyly, ... |
ORPHA:3329 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Meckel Syndrome, Type 10 |
|
Sacral dimple, Epicanthus, Anencephaly, Camptodactyly, Narrow palpebral fissure, Postaxial foot p... |
OMIM:614175 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... |
OMIM:217095 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... |
OMIM:615297 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short ribs, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Atrial septal de... |
OMIM:616546 |
| Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Wide nasal bridge, Preaxial foot polyda... |
OMIM:175700 |
| Iniencephaly |
|
Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Rhizomelia... |
ORPHA:63259 |
| Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Patent ductus arteriosus, Coxa valga, Abnormal metaphysi... |
ORPHA:166272 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Micrognathia, H... |
OMIM:274000 |
| Wolf-Hirschhorn Syndrome |
|
Optic atrophy, Abnormal cardiac septum morphology, Epicanthus, Abnormal thorax morphology, Short ... |
ORPHA:280 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, Clinodactyly, Short nose, Cubitus valgus, Short foot |
OMIM:300577 |
| Trisomy 20P |
|
Camptodactyly of finger, Micrognathia, Abnormality of the ureter, Short neck, Abnormal form of th... |
ORPHA:261318 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Scoliosis... |
ORPHA:1937 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Toe syndactyly, Micrognathia, Short nose, De... |
ORPHA:261120 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Bilateral talipes equinovarus, Right ... |
OMIM:306955 |
| 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 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Double outlet right ventricle, Wide nasal bridge, M... |
ORPHA:3304 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Conductive hearing impairment, Short 5th finger, Optic atrophy, Epicanth... |
OMIM:607872 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Short nose, Congenital diaphragmatic hernia, Depressed nasal bridge, P... |
ORPHA:2143 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short long bone, Short ribs, Thoracic dysplasia, Pulmonary hypoplasia,... |
OMIM:615503 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Wide nasal bridge, Micrognathia, Camptodactyly, Short neck, Sacral dimpl... |
OMIM:616894 |
| Chromosome 10Q26 Deletion Syndrome |
|
Convex nasal ridge, Wide nasal bridge, Toe syndactyly, Micrognathia, 2-3 toe cutaneous syndactyly... |
OMIM:609625 |
| Maxillonasal Dysplasia |
|
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... |
ORPHA:1248 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Horizontal ribs, Hypoplastic facial bones, Narrow greater sciatic notch, Prominent n... |
OMIM:616300 |
| Trigonocephaly 1 |
|
Wide nasal bridge, Long penis, Short nose, Lumbar hemivertebrae, Omphalocele |
OMIM:190440 |
| Rhiny |
|
Inguinal hernia, Anteverted nares, Short nose |
OMIM:180360 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Syndactyly, Ante... |
OMIM:601163 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Abnormality of the ureter, Anteverted nares, Deviation of finger, Hydronephrosis |
ORPHA:1450 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Renal dysplasia, Micrognathia, Hip dislocation, Elbow dislocation, Short... |
ORPHA:99776 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Renal dysplasia, Toe syndactyly, Short femu... |
ORPHA:93323 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Wide nasal bridge, Ventricular septal defect, Atrial septal defect, Short nos... |
ORPHA:401935 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenes... |
OMIM:601355 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Wide nasal bridge |
ORPHA:3366 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Hydrocephalus |
OMIM:258320 |
| Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Ventricular septal defect, Micrognathia, Clinodactyly... |
ORPHA:1388 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Congenital diaphragmatic hernia, Sirenomelia, C... |
ORPHA:63260 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Distal Trisomy 15Q |
|
Camptodactyly of finger, Micrognathia, Short neck, Arachnodactyly, Omphalocele, Prominent nasal b... |
ORPHA:1707 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Toe syndactyly, Micrognathia, Hydrocephalus, Renal agenesis, Radioulnar... |
ORPHA:171839 |
| Phenobarbital Embryopathy |
|
Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Hypospadi... |
ORPHA:1919 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Abnormal nasal morphology, Hydroce... |
ORPHA:83473 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Knee flexion contracture, Ventricular septal defect, Kyphosis, Vascular ring, Hydrocephalus, Long... |
OMIM:603387 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior... |
OMIM:122600 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
| Triploidy |
|
Meningocele, Finger syndactyly, Abnormal cardiac septum morphology, Micrognathia, Hydrocephalus, ... |
ORPHA:3376 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Optic atrophy, Epicanthu... |
OMIM:618164 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Vertebral segment... |
ORPHA:3186 |
| Orofaciodigital Syndrome Xvii |
|
Retrognathia, Polydactyly, Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly, ... |
OMIM:617926 |
| Holt-Oram Syndrome |
|
Atrioventricular canal defect, Absent thumb, Pectus excavatum, Phocomelia, Abnormal rib morpholog... |
ORPHA:392 |
| Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Ventricular septal defect, Joint c... |
OMIM:113000 |
| 3Mc Syndrome 1 |
|
Conductive hearing impairment, Short 5th finger, Synophrys, Abnormality of the abdominal wall, Sp... |
OMIM:257920 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Renal dysplasia, Micrognathia, Toe syndactyly, Hydrocephalus, Hip dislocation, Short ... |
OMIM:241800 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand poly... |
ORPHA:2091 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Conductive hearing impairment, Butterfly vertebrae, Camptodactyly, Cholesteatoma, Short neck, Pos... |
OMIM:611209 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... |
OMIM:613834 |
| Acromicric Dysplasia |
|
Small hand, Short metacarpal, Fifth metacarpal with ulnar notch, Short nose, Ovoid vertebral bodi... |
ORPHA:969 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Depressed nasal bridge... |
ORPHA:1913 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, Rhizomelia, Kyphosis, Abnormality of the elbow, M... |
ORPHA:3098 |
| Maternal Phenylketonuria |
|
Bifid distal phalanx of the thumb, Double outlet right ventricle, Ventricular septal defect, Wide... |
ORPHA:2209 |
| Acropectoral Syndrome |
|
Abnormal thorax morphology, Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Aplasia/Hypoplasia of the lungs, Narrow chest, Hydrocephalus, ... |
ORPHA:2635 |
| Crossed Polysyndactyly |
|
Hearing abnormality, Aplasia/Hypoplasia of the thumb, Upslanted palpebral fissure, Finger syndact... |
ORPHA:2935 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta, Narrow nasal bridge |
ORPHA:1514 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... |
ORPHA:185 |
| Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
| Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Cranium bifidum occultum, Wide nasal bridge, Hypoplastic frontal si... |
OMIM:136760 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Wide nasal bridge, Micrognathia, 2-3 toe cutaneous syndactyly, Vesicoureteral reflux, Patent fora... |
OMIM:618454 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hyperlordosis, Downslanted palpebral fissures, Kyphosis, Synophrys, Ptosis, Scolio... |
OMIM:615761 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Encephalocele, Optic atrophy, Spina bifida, Abnormality ... |
ORPHA:991 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Small hand, Wide nasal bridge, Natal tooth, Ventricular septal defect, Micr... |
OMIM:145420 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Retrognathia, Coat hanger sign of ribs, Wrist flexion contracture, Flexion contracture, Diastasis... |
ORPHA:254528 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Renal cyst, Syndactyl... |
OMIM:263630 |
| Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
| Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| 3C Syndrome |
|
Atrioventricular canal defect, Wide nasal bridge, Micrognathia, Short neck, Ventricular septal de... |
ORPHA:7 |
| Aicardi Syndrome |
|
Bifid ribs, Multiple lipomas, Sparse lateral eyebrow, Small hand, Optic atrophy, Block vertebrae,... |
ORPHA:50 |
| Codas Syndrome |
|
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Hydroureter, Short nose, ... |
ORPHA:1458 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ventral hernia, Anencephaly, Hydrocephalus, Renal agenesis, Ectopia cor... |
OMIM:313850 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Renal dysplasia, Talipes equinovarus, Short ribs, Enlarged kidney, Absent tibia,... |
OMIM:613091 |
| 3P25.3 Microdeletion Syndrome |
|
Tapered finger, Epicanthus, 2-3 finger syndactyly, Overlapping toe, Broad hallux, Sacral dimple, ... |
ORPHA:435638 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, ... |
ORPHA:254534 |
| Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Hypoplastic left heart... |
OMIM:615996 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... |
ORPHA:79345 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long bone, Micro... |
OMIM:614524 |
| Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... |
OMIM:620067 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Scoliosis, Nephronophthisis, R... |
OMIM:617271 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Myelomeningocele, Ventricular septal defect, Kyphosis,... |
ORPHA:1393 |
| Trisomy 18 |
|
Camptodactyly of finger, Narrow pelvis bone, Holoprosencephaly, Postaxial hand polydactyly, Abnor... |
ORPHA:3380 |
| Hydrolethalus Syndrome 2 |
|
Micrognathia, Anencephaly, Hydrocephalus, Preaxial foot polydactyly, Postaxial foot polydactyly, ... |
OMIM:614120 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Clinodactyly of the 5th finger, Short nose, Inguinal hernia, Cong... |
ORPHA:217385 |
| Viss Syndrome |
|
Aortic tortuosity, Ascending tubular aorta aneurysm, Pneumothorax, Butterfly vertebrae, Hip dislo... |
OMIM:619472 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Flexion contracture, Coxa valga, Thoracic hypoplasia, Epicanthus,... |
ORPHA:96334 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Preaxial hand polydactyly, Radial club hand, Wide nasal bridge, Short metacarpal, Micrognathia, B... |
ORPHA:1278 |
| Orofaciodigital Syndrome Xi |
|
Downslanted palpebral fissures, Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphos... |
OMIM:612913 |
| Endocrine-Cerebroosteodysplasia |
|
Wide nasal bridge, Micrognathia, Holoprosencephaly, Depressed nasal tip, Fibular bowing, Talipes ... |
OMIM:612651 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... |
OMIM:134780 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epicanthus, Atrial septal defect, Ptosis, Pul... |
OMIM:612946 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Hearing abnormality, Bell-shaped thorax, Downslanted palpebral fissures,... |
ORPHA:2021 |
| Codas Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Delayed eruption of teeth, Genu valgum, V... |
OMIM:600373 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal i... |
OMIM:615993 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Hypoplastic iliac wing, Metaphyseal cupping, Rhizomelia, Depressed nasal ridge,... |
OMIM:300863 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormal aortic valve morphology... |
ORPHA:261197 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Short long bone, Short nose, Limb undergrowth, Short neck, Brachydactyly, ... |
ORPHA:221054 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Patent ductus arterio... |
ORPHA:2547 |
| Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Optic atrophy, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, ... |
ORPHA:168549 |
| Joubert Syndrome 14 |
|
Meningocele, Downslanted palpebral fissures, Encephalocele, Ventricular septal defect, Optic atro... |
OMIM:614424 |
| Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg... |
OMIM:251450 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Short finger, Inguinal hernia, Broad thumb, Recurrent upper respiratory tract infections, Postaxi... |
OMIM:300209 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Depress... |
OMIM:601927 |
| Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Bronchiectasis, Abnormal inferior vena cava morphology, Hearing im... |
ORPHA:244 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Intervertebral space narrowing, Genu valgum, Short metacarpal, Wide nasal bridge, Capi... |
OMIM:614078 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Wide nasal bridge, Kyphosis, Abnormal cardiac septum morphology, Mi... |
ORPHA:2075 |
| Miller-Dieker Lissencephaly Syndrome |
|
Sacral dimple, Polydactyly, Wide nasal bridge, Delayed eruption of teeth, Joint contracture of th... |
OMIM:247200 |
| Anophthalmia Plus Syndrome |
|
Spina bifida, Vertebral segmentation defect, Abnormal nasal morphology, Deviation of finger, Choa... |
ORPHA:1104 |
| Distal Trisomy 18Q |
|
Camptodactyly of finger, Arachnodactyly, Progressive intervertebral space narrowing, Micrognathia... |
ORPHA:1716 |
| Sonoda Syndrome |
|
Depressed nasal bridge, High axial triradius, Ventricular septal defect |
OMIM:270460 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Dislocated radial head, Short neck, Radial deviation of finger, Short palm, Pos... |
OMIM:268310 |
| Achondrogenesis Type 1B |
|
Femoral hernia, Micrognathia, Talipes equinovarus, Short nose, Short neck, Anteverted nares, Micr... |
ORPHA:93298 |
| Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Ventricular septal defect, Short nose, Congenit... |
OMIM:222448 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Telecanthus, Downslanted palpebral fissures, Coxa valga, Ventricul... |
OMIM:301056 |
| Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus |
OMIM:614209 |
| Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short nose, Depressed nasal bridge, Short ... |
ORPHA:1914 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
| Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Hypoplastic left atrium... |
OMIM:615524 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Toe syndactyly, Short neck, Abnormal rib morphology, ... |
ORPHA:373 |
| Developmental And Epileptic Encephalopathy 73 |
|
Flexion contracture, Hip dysplasia, Short nose, Inguinal hernia, Narrow nasal bridge, Scoliosis |
OMIM:618379 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Short nose, Short neck, An... |
ORPHA:1832 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Holoprosencephaly |
|
Abnormal antihelix morphology, Spinal dysraphism, Optic atrophy, Epicanthus, Synophrys, Holoprose... |
ORPHA:2162 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
2-3 toe syndactyly, Patent foramen ovale, Double outlet right ventricle, Downslanted palpebral fi... |
ORPHA:477817 |
| Desbuquois Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Coxa valga, Small ... |
ORPHA:1425 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, Micrognathia, Talipes equinovarus, Short nose, Inguinal hernia, Single transverse ... |
OMIM:613544 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Bronchiectasis, Recurrent otitis media, Dextrocardia, Recurrent lo... |
OMIM:618254 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul... |
OMIM:613759 |
| Pallister-Hall Syndrome |
|
Patent ductus arteriosus, Mesoaxial foot polydactyly, Short 4th metacarpal, Ventricular septal de... |
OMIM:146510 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia, Polydactyly, Occipital encephalocele |
OMIM:615397 |
| X-Linked Intellectual Disability, Siderius Type |
|
Large hands, Preaxial hand polydactyly, Broad nasal tip, Scoliosis |
ORPHA:85287 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Aortic arch aneurysm, Optic atrophy, Abno... |
ORPHA:1606 |
| Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Ventricular septal defect, Abnormal renal tubule morphology, Atrial... |
ORPHA:1909 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Nephronophthisis, Dentinog... |
OMIM:184260 |
| Achondrogenesis Type 1A |
|
Femoral hernia, Short foot, Micrognathia, Multiple rib fractures, Short nose, Short neck, Antever... |
ORPHA:93299 |
| Orofaciodigital Syndrome Vi |
|
Conductive hearing impairment, Epicanthus, Toe syndactyly, Short femur, Radial deviation of finge... |
OMIM:277170 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metatarsal, Short thorax, Short metacarpal, Angel-shaped phalanx, ... |
OMIM:617102 |
| Fibromuscular Dysplasia, Multifocal |
|
Downslanted palpebral fissures, Pulmonary artery aneurysm, Tortuous cerebral arteries, Celiac art... |
OMIM:619329 |
| Marshall-Smith Syndrome |
|
Bilateral conductive hearing impairment, Hallux valgus, Recurrent aspiration pneumonia, Synophrys... |
OMIM:602535 |
| Vacterl With Hydrocephalus |
|
Retrognathia, Femoral hernia, Aqueductal stenosis, Absence of the sacrum, Spina bifida, Micrognat... |
ORPHA:3412 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... |
OMIM:614326 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Vesicoureteral reflux, Patent ductus arteriosus, Multicystic kidney dys... |
ORPHA:2970 |
| Tarp Syndrome |
|
Short sternum, Short palpebral fissure, Postaxial polydactyly, Optic atrophy, Microtia, Hypoplasi... |
OMIM:311900 |
| Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Multiple lipomas, Urinary incontinence, Myelomeningocele, Absence of the sacrum, A... |
OMIM:182940 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Elbow contracture, Broad hallux, Short hallux, Short neck, Postaxia... |
OMIM:304120 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Rhizomelia, Short foot, Depressed nasal ridge, Abnormality of the calcane... |
ORPHA:163966 |
| Laurin-Sandrow Syndrome |
|
Underdeveloped nasal alae, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand po... |
ORPHA:2378 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Lumbar kyphosis, S... |
OMIM:253000 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Wide nasal bridge, Micrognathia, Camptodactyly, Fibular aplasia, Spin... |
OMIM:300373 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Thoracic hypoplasia, Recurrent aspiration pneumonia, Epicanthus, Abnormal optic disc... |
ORPHA:397715 |
| Non-Distal Trisomy 10Q |
|
Convex nasal ridge, Micrognathia, Short nose, Depressed nasal bridge, Scoliosis, Abnormality of t... |
ORPHA:1695 |
| Intellectual Disability, Wolff Type |
|
Camptodactyly of finger, Wide nasal bridge, Clinodactyly of the 5th finger, Microretrognathia, In... |
ORPHA:3080 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Abnormal aortic morphology, Multicystic kidney dysplasia, Wide nasal bridg... |
ORPHA:2059 |
| Kbg Syndrome |
|
Synophrys, Cervical ribs, Short neck, Radial deviation of finger, Ulnar deviation of the 2nd fing... |
OMIM:148050 |
| Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
| Carpenter Syndrome |
|
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... |
ORPHA:65759 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Hyposmia, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot poly... |
OMIM:615994 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Sacral dimple, Atrioventricular canal defect, Tapered finger, Epicanthus, Blepharophimosis, Synop... |
OMIM:613792 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Wide nose, Patent ductus arteriosus, Communicating hydrocephalus, Hernia of the abdominal wall, A... |
ORPHA:2184 |
| Schneckenbecken Dysplasia |
|
Snail-like ilia, Metaphyseal irregularity, Dumbbell-shaped long bone, Anterior rib cupping, Advan... |
OMIM:269250 |
| Orofaciodigital Syndrome V |
|
Downslanted palpebral fissures, Recurrent respiratory infections, Ventricular septal defect, Agan... |
OMIM:174300 |
| Burn-Mckeown Syndrome |
|
Abnormal cardiac septum morphology, Wide nasal bridge, Short nose, Bilateral choanal atresia, Pro... |
ORPHA:1200 |
| Joubert Syndrome 10 |
|
Downslanted palpebral fissures, Low-set ears, Postaxial polydactyly, Epicanthus |
OMIM:300804 |
| Atrial Septal Defect, Ostium Primum Type |
|
Left ventricular hypertrophy, Clubbing of toes, Clubbing of fingers, Pulmonary artery dilatation,... |
ORPHA:99106 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Downslanted palpebral fissures, Sparse eyebrow, Macrotia, Sensorineural hearing im... |
ORPHA:544488 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly |
OMIM:615982 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle, Downslanted palpebral fissures, Ventricular ... |
OMIM:616652 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Absent nares, Encephalocele, Hypoplasia of the premaxilla, Abnormal cardiac septum morphology, Re... |
ORPHA:2166 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Spina bifida, Abnormal metacarpal morphology, Craniofacial hyper... |
ORPHA:3219 |
| Joubert Syndrome 16 |
|
Renal cyst, Polydactyly, Encephalocele, Nephronophthisis |
OMIM:614465 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Triceps aplasia, Glomerulonephritis, Absent distal interphalangeal creases, Limit... |
OMIM:161200 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Depressed nasal bridge, Umbilical hernia |
OMIM:275100 |
| Megabladder, Congenital |
|
Patent ductus arteriosus, Ventricular septal defect, Stage 5 chronic kidney disease, Bicuspid aor... |
OMIM:618719 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Depressed nasal bridge, Malar flattening, Postaxia... |
OMIM:615984 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Finger syndactyly, Micrognathia, Abnormality of the upper urinary tract, Shor... |
ORPHA:2145 |
| Ruvalcaba Syndrome |
|
Convex nasal ridge, Cone-shaped epiphysis, Small hand, Kyphosis, Short metacarpal, Abnormality of... |
ORPHA:3121 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Downslanted palpebral fissures, Ventricular septal defect, Epicanthus, ... |
OMIM:619717 |
| Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... |
OMIM:156530 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Patent ductus arteriosus, Deviation of finger, Depressed nasal ridge, Wide nasal bridge, Abnormal... |
ORPHA:2412 |
| Nemaline Myopathy 9 |
|
Micrognathia, Scoliosis, Arthrogryposis multiplex congenita, Ventricular septal defect |
OMIM:615731 |
| Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Aplasia/Hypoplasia of the lungs, Toe syndactyly, Narro... |
ORPHA:474 |
| Trisomy 4P |
|
Camptodactyly of finger, Radial club hand, Preaxial hand polydactyly, Depressed nasal bridge, Sho... |
ORPHA:1738 |
| Atelosteogenesis, Type Ii |
|
Micrognathia, Limb undergrowth, Short neck, Talipes equinovarus, Lumbar hyperlordosis, Abnormal p... |
OMIM:256050 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Atrioventricular canal defect, Unbalanced atrioventricular c... |
OMIM:619534 |
| Even-Plus Syndrome |
|
Vertebral clefting, Vesicoureteral reflux, Patent foramen ovale, Depressed nasal ridge, Recurrent... |
OMIM:616854 |
| Tarp Syndrome |
|
Abnormal antihelix morphology, Optic atrophy, Pulmonary hypoplasia, Prominent antihelix, Pectus e... |
ORPHA:2886 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
| Mohr Syndrome |
|
Micrognathia, Partial duplication of the phalanges of the hallux, Postaxial hand polydactyly, Sho... |
OMIM:252100 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of fi... |
ORPHA:391646 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Micrognathia, Occipital encephalocele, Flexion contracture |
OMIM:617562 |
| Diaphanospondylodysostosis |
|
Micrognathia, Narrow pelvis bone, Short neck, Absent in utero rib ossification, Talipes equinovar... |
OMIM:608022 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
| Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Polydactyly |
OMIM:615988 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Ulnar devi... |
ORPHA:1529 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Wide nasal bridge, Short long bone, Ventricu... |
ORPHA:2256 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Patent foramen ovale, Downslanted palpebral fissures, Ventricular septal defect, Opt... |
OMIM:618950 |
| 8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Enlarged thorax, Tapered finger, Abnormal cardiac septum morpholog... |
ORPHA:251071 |
| Campomelic Dysplasia |
|
Short phalanx of finger, Spinal dysraphism, Hallux valgus, Micrognathia, Hip dislocation, Metatar... |
OMIM:114290 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Nephropathy, Multiple renal cysts, Bilateral single transverse palmar creas... |
ORPHA:3033 |
| 8P23.1 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Toe syndactyly, Tetralogy of Fallot, Pulmonic stenosis, Hyd... |
ORPHA:251076 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Flexion contracture, Tapered finger, Ventricular septal defect, Interph... |
OMIM:613870 |
| Jacobsen Syndrome |
|
Wide nasal bridge, Toe syndactyly, Hip dislocation, Broad columella, Short neck, Abnormal form of... |
ORPHA:2308 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Wide nasal bridge, Micrognathia, Short femur, Hypertrophic cardiomyopathy, L... |
OMIM:616897 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Hydrocephalus, Clinodactyly, Short... |
OMIM:618577 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Microphallus, Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of F... |
OMIM:615542 |
| Lambotte Syndrome |
|
Retrognathia, Convex nasal ridge, Ventricular septal defect, Preaxial foot polydactyly, Semilobar... |
OMIM:245552 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia, Prominent nose, Radioulnar synostosis, Carious teeth, Prominent nas... |
ORPHA:3270 |
| Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Short toe, Finger syndactyly, Wide nasal bridge, Ventricular septal def... |
ORPHA:1519 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Spinal dysraphism, Tethered cord, Scoliosis, Lipoma, Sandal gap, Renal hypoplasia... |
OMIM:612918 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Aplasia/Hypoplasia of the eyebrow, Short long bone, Short ribs, Epicanthus, Flat ace... |
OMIM:614091 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Polydactyly, Hernia, Ventricular septal defect, Hydrocephalus, Syndactyly, Depres... |
OMIM:602501 |
| 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 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Downslanted palpebral fissures, Ventricular septal defect, Kyphosis, Bilatera... |
ORPHA:404440 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Coxa valga, Wide nasal bridge, Micrognathia, Broad hallux, Short neck, Short palm, Ventricular se... |
OMIM:620073 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Short 5th metacarpal, Perimembranous ventricular septal defect, Clin... |
OMIM:617877 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Tapered finger, Thoracic hemivertebrae, Bicuspid aortic valve, Clinodactyly of the 5... |
OMIM:619721 |
| Joubert Syndrome 7 |
|
Genu valgum, Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Postaxial hand polydactyl... |
OMIM:611560 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly, Renal insufficiency |
OMIM:615991 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Short nose, Delayed eruption of perman... |
OMIM:618506 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Horizontal sacrum, Micrognathia, Radial bowing, Cervical kyphosis, Flat acetabular ro... |
OMIM:108721 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Pulm... |
OMIM:249670 |
| Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
| Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, 2-3 toe syndactyly, Mandibular prognathia, Bilateral choanal atresia/s... |
OMIM:608572 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Limited elbow extension, Scapular winging, Talipes equinovarus, Vertebral fusion, Cap... |
OMIM:272460 |
| Cartilage-Hair Hypoplasia |
|
Spinal dysraphism, Convex nasal ridge, Wide nasal bridge, Abnormal cardiac septum morphology, Abn... |
ORPHA:175 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Knee flexion contracture, Preaxial hand polydactyly, Pear-shaped nose, Interphalangeal joint cont... |
OMIM:606242 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Spina bifida, S... |
ORPHA:894 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Horizontal ribs, Hypoplastic pubic bone, Microtia, Short long bone, Short ribs, Narr... |
OMIM:617925 |
| Acrodysostosis |
|
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Abnormal form of the vertebra... |
ORPHA:950 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Coxa valga, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Cervical ribs, Pho... |
ORPHA:3320 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... |
ORPHA:2516 |
| Mesomelic Limb Shortening And Bowing |
|
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... |
OMIM:249710 |
| Achondrogenesis |
|
Micrognathia, Short nose, Inguinal hernia, Short neck, Anteverted nares, Micromelia, Umbilical he... |
ORPHA:932 |
| Fryns Syndrome |
|
Thoracic hypoplasia, Camptodactyly, Pulmonary hypoplasia, Short neck, Aplasia of the left hemidia... |
OMIM:229850 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Con... |
ORPHA:1540 |
| Whistling Face Syndrome, Recessive Form |
|
Underdeveloped nasal alae, Knee flexion contracture, Micrognathia, Elbow flexion contracture, Cam... |
OMIM:277720 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Pseudoepiphyses, Epicanthus, Congenital sensorineural hearing impa... |
OMIM:157800 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect |
OMIM:122850 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Downslanted palpebral fissures, Hip dysplasia, Hydrocephalus, Deviation of the 5th finger, Pectus... |
OMIM:616362 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
| Down Syndrome |
|
Atrioventricular canal defect, Conductive hearing impairment, Epicanthus, Pulmonary artery stenos... |
OMIM:190685 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Depressed nasal ridge, Anteverted nares, Short nose |
ORPHA:1355 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... |
OMIM:309350 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Tubulonodular pericallosal lipoma, Polydactyly, Encephalocele, Patellar hypoplasia, ... |
OMIM:603671 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ventricular hypertrophy, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Sho... |
OMIM:602613 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, 2-3 toe syndactyly, 11 pairs of ribs, Downslanted palpebral fissures, Aorto... |
OMIM:620025 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus |
OMIM:615938 |
| Oculoauriculofrontonasal Syndrome |
|
Underdeveloped nasal alae, Wide nose, Encephalocele, Ventricular septal defect, Micrognathia, Sco... |
ORPHA:398156 |
| Sirenomelia |
|
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the radius, ... |
ORPHA:3169 |
| Hajdu-Cheney Syndrome |
|
Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Micrognathia, Dislocated ra... |
OMIM:102500 |
| Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Hyperlordosis, Multicystic kidney dysplasia, Small hand, Wide nasal bridge, Ve... |
OMIM:619980 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Elbow... |
OMIM:210710 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... |
OMIM:614613 |
| Distal Tetrasomy 15Q |
|
Retrognathia, Nephroblastoma, Arachnodactyly, Flexion contracture, Hernia, Patent ductus arterios... |
ORPHA:314588 |
| Carpenter Syndrome 2 |
|
Epicanthus, Camptodactyly, Pectus excavatum, Short neck, Talipes equinovarus, Posteriorly rotated... |
OMIM:614976 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Prominent nose, Wide nasal bridge, Abnormal cardiac septum morphology, Micrognathia,... |
OMIM:301022 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Spinal dysraphism, Absence of the sacrum, Mitral stenosis, Butterfly verte... |
OMIM:617660 |
| Perlman Syndrome |
|
Retrognathia, Nephroblastoma, Wide nasal bridge, Micrognathia, Hypoplasia of penis, Short nose, I... |
ORPHA:2849 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Thoracic kyphosis, Micrognathia, Flat acetabular roof, Anis... |
ORPHA:163649 |
| Pentasomy X |
|
