| Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar... |
ORPHA:2437 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... |
OMIM:183600 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... |
ORPHA:488232 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Joint contracture of the hand, Long neck, Umbilical h... |
OMIM:611962 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal heart morphology, Abnormal hip bone morphology, Abnormality of the neck, Polydactyly, Up... |
ORPHA:294975 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Mend Syndrome |
|
Aortic valve stenosis, Long neck, Broad hallux, Abnormal heart morphology, Overlapping toe, Overl... |
ORPHA:401973 |
| Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... |
ORPHA:93323 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Long neck, Flared metaphysis, Stillbirth, C... |
OMIM:309350 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Cleft palate, Split ... |
DECIPHER:46 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot |
OMIM:190680 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... |
ORPHA:1113 |
| Mend Syndrome |
|
Aortic valve stenosis, Long neck, Broad hallux, Overlapping toe, Overlapping fingers, Redundant n... |
OMIM:300960 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Split foot, Split hand, Cleft palate |
OMIM:183700 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Atrioventricular block, Broad thumb, Aplasia/Hypoplasia of the radius, Fi... |
ORPHA:392 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Small hypothenar eminence, Inguinal hernia, Mitral valve prolapse,... |
OMIM:211960 |
| Joubert Syndrome 15 |
|
Coloboma, Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Lobar holoprosencephaly, Cleft palate |
ORPHA:2117 |
| Mosaic Trisomy 20 |
|
Long neck, Clinodactyly, Abnormal mitral valve morphology, Down-sloping shoulders, Ventricular se... |
ORPHA:1724 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Long neck, Inguinal hernia, Down-sloping shoulders, Broad palm, High palate, Camptodactyly, Clino... |
OMIM:227330 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Ectrodactyly-Polydactyly |
|
Split hand, Split foot, Postaxial hand polydactyly |
OMIM:225290 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
2-3 toe cutaneous syndactyly, Long neck, Down-sloping shoulders, Short neck, Long fingers, High p... |
OMIM:301091 |
| Moebius Syndrome |
|
Hand clenching, Bifid uvula, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviati... |
OMIM:157900 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Gastrointestinal hemorrhage, Finger syndactyly, Tetralogy of Fall... |
ORPHA:974 |
| Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Umbilical hernia, Congestive heart failure, Abnormal heart valve m... |
OMIM:309900 |
| Tetramelic Monodactyly |
|
Hand monodactyly, Split hand, Split foot, Foot monodactyly |
OMIM:187510 |
| Cooks Syndrome |
|
Triphalangeal thumb, Broad thumb, Brachydactyly, Split hand |
ORPHA:1487 |
| Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive |
|
Split hand, Split foot, Tapered finger |
OMIM:220600 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Gastroschisis, Ventricular septal defec... |
ORPHA:2476 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Ventricular septal defect, Short ne... |
ORPHA:251014 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Finger syndactyly, Chorioretinal coloboma, Ventricular septal defect, Iris colobo... |
ORPHA:2092 |
| Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal morphology of ulna, Split h... |
ORPHA:971 |
| Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Hand monodactyly, Split hand, Split foot |
OMIM:183800 |
| Split-Hand And Split-Foot With Hypodontia |
|
Split hand, Split foot |
OMIM:183500 |
| Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Ventricular septal defect |
ORPHA:3434 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Inguinal hernia, Polydactyly, Clinodactyly of the... |
ORPHA:397590 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Occipital Horn Syndrome |
|
Long neck, Genu valgum, Limited elbow extension, Short humerus, Hiatus hernia, Short clavicles, O... |
OMIM:304150 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Long neck, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th fing... |
ORPHA:1974 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Long neck, Communicating hydrocephalus, Arachnodactyly, Large hands, High palate |
OMIM:617011 |
| Anonychia-Ectrodactyly |
|
Aplasia of metacarpal bones, Split hand |
OMIM:106900 |
| Acalvaria |
|
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Omphalocele, Holoprosencephaly, Cleft pa... |
ORPHA:945 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Trisomy 13 |
|
High, narrow palate, Abnormal pelvic girdle bone morphology, Ectrodactyly, Bilateral single trans... |
ORPHA:3378 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Webbed neck, Finger syndactyly, Micromelia, Brachydactyly, Split hand, Cleft palate |
ORPHA:2145 |
| Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis, Abnormal tricuspid valve morp... |
ORPHA:1759 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Elbow dislocation, Esophagitis, Perineal fistula, Abnormal metacarpal morphology, Atrial septal d... |
ORPHA:2538 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Micromelia, Increased nuchal translucency, Femoral bowing, Bowing of the long b... |
ORPHA:1860 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Hypoplastic iliac wing, Genu valgum, Mitral regurgitation, Hepatomegaly, Tr... |
OMIM:253200 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Tetralogy of Fallot, Abnormal perica... |
ORPHA:1335 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Short neck, Anal atresia, Syndactyly, P... |
OMIM:305450 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... |
ORPHA:957 |
| Finnish Upper Limb-Onset Distal Myopathy |
|
Intrinsic hand muscle atrophy, Joint contracture of the hand, Weakness of the intrinsic hand musc... |
ORPHA:399086 |
| Phocomelia, Schinzel Type |
|
High, narrow palate, Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ... |
ORPHA:2879 |
| Otofaciocervical Syndrome 1 |
|
High palate, Long neck, Scapular winging, Down-sloping shoulders |
OMIM:166780 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Split hand, Hand muscle atrophy, Hand muscle weakness |
ORPHA:100998 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Ulnar claw, Talipes equinovarus, Split hand, Hammertoe |
OMIM:604563 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Thenar muscle weakness, Split hand, Hammertoe |
OMIM:118300 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Myelopathy, Mitral regurgitation, Tali... |
OMIM:252500 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot |
ORPHA:1122 |
| Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs... |
ORPHA:2369 |
| Limb Defects, Distal Transverse, With Impaired Intellectual Development And Spasticity |
|
Split hand |
OMIM:246555 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... |
ORPHA:2491 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Ulnar claw, Split hand, Hammertoe |
OMIM:118220 |
| Jackson-Weiss Syndrome |
|
Toe syndactyly, Preaxial foot polydactyly, Symphalangism affecting the phalanges of the hand, 2-3... |
ORPHA:1540 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Atrial septal defect, Ana... |
OMIM:175700 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Talipes equinovar... |
OMIM:609945 |
| Isolated Klippel-Feil Syndrome |
|
Webbed neck, Abnormal shoulder morphology, Congenital muscular torticollis, Low posterior hairlin... |
ORPHA:2345 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Distal upper limb muscle weakness, Split hand, Hammertoe, Upper limb amyotrophy |
ORPHA:99950 |
| Split-Hand/Foot Malformation 3 |
|
Camptodactyly, High palate, Split hand, Cleft palate |
OMIM:246560 |
| Acces Syndrome |
|
Ectrodactyly, Tracheoesophageal fistula, Hip dysplasia, Clinodactyly of the 5th finger, Hip dislo... |
OMIM:619959 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Talipes equinovarus, Split hand |
OMIM:607831 |
| Myopathy, Distal, 3 |
|
Joint contracture of the hand, Split hand |
OMIM:610099 |
| Limb-Mammary Syndrome |
|
Bifid uvula, Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Cleft palat... |
OMIM:603543 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic ilia, Secundum atrial septal defect, Long neck, Clinodactyly, Slender long bone, Shor... |
OMIM:264090 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Short ... |
OMIM:102510 |
| Spastic Paraplegia 17, Autosomal Dominant |
|
Thenar muscle atrophy, Thenar muscle weakness, Split hand |
OMIM:270685 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Arachnodactyly, High palate, Communicating hydrocephalus, Long neck |
ORPHA:457359 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... |
OMIM:618167 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Situs inversus ... |
ORPHA:1908 |
| Acrocardiofacial Syndrome |
|
Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Split foot, Mitr... |
ORPHA:2008 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Tricuspid regurgitation, ... |
ORPHA:1120 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hand clenching, Abnormal anterior horn cell morphology, Single transverse palmar crease, Neonatal... |
OMIM:611890 |
| Zaki Syndrome |
|
Broad distal phalanx of finger, Toe syndactyly, Ectrodactyly, Hypoplasia of the phalanges of the ... |
OMIM:619648 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Ulnar claw, Split hand, Hammertoe |
OMIM:118200 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Omphalocele, Postax... |
OMIM:603194 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Split hand |
OMIM:618124 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... |
ORPHA:2878 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Type B brachydactyly, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
| Alopecia-Intellectual Disability Syndrome |
|
Split hand, Brachydactyly |
ORPHA:2850 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Hand muscle weakness,... |
ORPHA:101097 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Split hand, Neonatal death |
OMIM:610127 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Dysphagia, Split hand |
OMIM:614707 |
| Humero-Radial Synostosis |
|
Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist, Tarsal synostosis, Aplasia/H... |
ORPHA:3265 |
| Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, An... |
ORPHA:1507 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Split hand |
OMIM:617882 |
| Poland Syndrome |
|
Small hand, Finger syndactyly, Encephalocele, Low posterior hairline, Aplasia/Hypoplasia of the t... |
ORPHA:2911 |
| Schisis Association |
|
Micromelia, Encephalocele, Tracheoesophageal fistula, Spina bifida, Omphalocele, Anal atresia, An... |
ORPHA:63862 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand |
ORPHA:2440 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... |
ORPHA:1617 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Intrinsic hand muscle atrophy, Split hand |
OMIM:616688 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Ectrodactyly, Iris coloboma, Clinodactyly, Cleft palate |
OMIM:147950 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Thin metatarsal cortices, Distal tapering of metatarsals, Finger swelling, Carpal osteolysis, Thi... |
OMIM:259600 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Ulnar claw, Split hand, Hammertoe |
OMIM:145900 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Joint contracture of the hand, Anterior basal encephalocele, Clinodacty... |
OMIM:136760 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Oligodactyly, Perineal fistula, Hydrocephalus, Rectal atresia, Hypoplasia of the ra... |
ORPHA:3016 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Broad neck, Joint contracture of the hand, Congenital hip dislocation, Ventricular hypertrophy, C... |
OMIM:300280 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Rudimentary fibula, Ru... |
ORPHA:958 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
| Mucopolysaccharidosis Type 1 |
|
Abnormal epiphysis morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal he... |
ORPHA:579 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
| Triploidy |
|
Finger syndactyly, Intestinal malrotation, Short neck, Hydrocephalus, Abnormal cardiac septum mor... |
ORPHA:3376 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Retinal coloboma, Campto... |
ORPHA:2839 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Polydactyly, Talipes equinovarus, Short neck, Pericardial... |
OMIM:613885 |
| Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Shallow acetabular fossae, Cardiomyopathy, Irregular carpal bones, Inguinal... |
OMIM:252600 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Chorioretinal coloboma, Telangiectasia, Foot polydactyly, Iris coloboma, Short me... |
OMIM:305600 |
| Cantu Syndrome |
|
Erlenmeyer flask deformity of the femurs, Congenital hypertrophy of left ventricle, Broad hallux,... |
OMIM:239850 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Split hand |
ORPHA:168486 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
| Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
| Infantile Sialic Acid Storage Disease |
|
Congestive heart failure, Splenomegaly, Cardiomegaly, Hydrocephalus, Hepatomegaly, High palate, M... |
OMIM:269920 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Ventricular septal defect, Short neck, Abnormal me... |
ORPHA:818 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Muscular ventricu... |
OMIM:618569 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Clinodactyly of the 5th finger, Redundant neck skin, Single transverse palmar cr... |
OMIM:236500 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness |
OMIM:607641 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... |
ORPHA:989 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly, Occipital encephalocele |
OMIM:213010 |
| Thalidomide Embryopathy |
|
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... |
ORPHA:3312 |
| Renpenning Syndrome |
|
High, narrow palate, Abnormal thumb morphology, Heterotaxy, Clinodactyly of the 5th finger, Anal ... |
ORPHA:3242 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Short humerus, Neonatal death, Hand polydactyly, Tracheoesophageal... |
OMIM:314390 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Cubitus valgu... |
ORPHA:1327 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Sh... |
OMIM:276820 |
| Joubert Syndrome 16 |
|
Coloboma, Encephalocele, Polydactyly |
OMIM:614465 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Ventricular septal defect, Col... |
OMIM:601357 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology, Hand muscle atrophy |
OMIM:183020 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Talipes equinovarus, Split hand |
OMIM:604168 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Trident pelvis, Ventricular septal defect, Bowing of the long bones, Tal... |
OMIM:614815 |
| Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Camptodactyly of finger, Hand muscle atrophy, Intrinsic hand muscle atrophy, Weakness of the intr... |
ORPHA:324442 |
| Jawad Syndrome |
|
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... |
OMIM:251255 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microglossia, Aplasia/Hypoplasia of the radius, Oligodactyly, Abnormality of the wrist, Tarsal sy... |
ORPHA:1307 |
| Abruzzo-Erickson Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Short toe, Chorioretinal coloboma, Radioulnar synostos... |
ORPHA:921 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Inguinal hernia, Arac... |
OMIM:600325 |
| Caudal Duplication |
|
Intestinal duplication, Myelomeningocele, Spinal cord lesion, Spina bifida, Omphalocele |
ORPHA:1756 |
| Polydactyly, Preaxial Iv |
|
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Bowing of the long bones, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Bilateral cleft palate, Spina bifida, Iris coloboma, Cleft palate |
ORPHA:1104 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology, Dysphagia |
OMIM:611637 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Lo... |
OMIM:220210 |
| Wolf-Hirschhorn Syndrome |
|
Short thumb, Abdominal situs inversus, Preaxial hand polydactyly, Abnormal heart valve morphology... |
ORPHA:280 |
| 15Q24 Microdeletion Syndrome |
|
Small hand, Clinodactyly, Myelomeningocele, Abnormal heart morphology, Abnormal thumb morphology,... |
ORPHA:94065 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Split hand, Duodenal atresia, Phocomelia |
ORPHA:3004 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Omphaloce... |
ORPHA:63260 |
| Microphthalmia, Syndromic 8 |
|
Split foot, Cleft palate |
OMIM:601349 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Redundant neck skin, Ventricular septal defect, Cardiomegaly, Patent for... |
OMIM:618652 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Facial telangiectasia, Inguinal hernia, Contracture of the proximal interphalan... |
OMIM:620141 |
| Orofaciodigital Syndrome Xvii |
|
High, narrow palate, Clinodactyly, Tetralogy of Fallot, Short middle phalanx of the 2nd finger, P... |
OMIM:617926 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... |
ORPHA:1517 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Talipes equinovarus, Joint contracture of the hand |
OMIM:611067 |
| Fliedner-Zweier Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Anal atresia, Tracheoesophageal fistula, Hallux... |
OMIM:620511 |
| Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Sirenomelia, Tracheoesophageal fistula, Spina bifida, Anal atresia |
ORPHA:3169 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Postaxial polydactyly, Coloboma, Hydrocephalus, Meningo... |
OMIM:614424 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Patent foramen ovale, Brachydacty... |
ORPHA:88630 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Anomalous pulmonary venous return, ... |
ORPHA:2311 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... |
OMIM:613320 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Low posterior hairline, Talipes equinovarus, Radioulnar synostosis, Sh... |
OMIM:194190 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... |
ORPHA:2041 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:306955 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly |
OMIM:615984 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Coloboma, Brachydactyly, Iris coloboma, Syndactyly |
OMIM:610023 |
| Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Syringomyelia... |
ORPHA:63259 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Dysphagia |
ORPHA:247604 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Genu valgum, Mitral valve prolapse, Low posterior hairline, Talipes equinova... |
OMIM:245600 |
| Biemond Syndrome Type 2 |
|
Coloboma, Hydrocephalus, Preaxial polydactyly |
ORPHA:141333 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... |
OMIM:607361 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Partial atriovent... |
OMIM:615996 |
| Mosaic Trisomy 9 |
|
Elbow dislocation, Endocardial fibroelastosis, Ventricular septal defect, Talipes equinovarus, Sh... |
ORPHA:99776 |
| Meckel Syndrome, Type 10 |
|
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de... |
OMIM:614175 |
| Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, Webbed neck, Broad neck, Broad hallux, Umbilical hernia, Elbow flexion contr... |
OMIM:613776 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... |
ORPHA:2211 |
| Trisomy 18 |
|
Webbed neck, Iris coloboma, Deviation of finger, Cyclopia, Camptodactyly of finger, Abnormal hip ... |
ORPHA:3380 |
| Blepharocheilodontic Syndrome 1 |
|
Anal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Curry-Jones Syndrome |
|
Iris coloboma, Anal stenosis, Broad thumb, Intestinal pseudo-obstruction, Preaxial hand polydacty... |
OMIM:601707 |
| Mulibrey Nanism |
|
Microglossia, Congestive heart failure, Single transverse palmar crease, Cardiomegaly, Thickened ... |
OMIM:253250 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... |
OMIM:274000 |
| Hypomelia With Mullerian Duct Anomalies |
|
Split hand, Postaxial hand polydactyly |
OMIM:146160 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Verheij Syndrome |
|
Short 5th finger, Clinodactyly, Branchial cyst, Ventricular septal defect, Truncus arteriosus, Sh... |
OMIM:615583 |
| Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Myelomeningocele, Epiphyseal stippling, Short neck, Brachydactyly... |
ORPHA:1914 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Coloboma |
OMIM:613094 |
| Congenital Myopathy 8 |
|
Cardiomegaly, High palate, Congestive heart failure |
OMIM:618654 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Ventricular septal defect, Hydrocephalus, Syndactyly |
OMIM:602501 |
| Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Situs inver... |
OMIM:613807 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Rudimentary fibula, Elbow flexion contracture, Rudimentary ... |
OMIM:200980 |
| Alg3-Cdg |
|
Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormality of the gastrointestinal tract, Abnormal... |
ORPHA:79321 |
| Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Short neck, Broad palm, Spina bifida |
OMIM:620439 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Slender finger, Broad thumb, Gastroesophageal reflux, Umbilical hernia, Inguinal hernia, Single t... |
ORPHA:329224 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Hydrocephalus, Congestive heart failure |
OMIM:300886 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Webbed neck, Fractured radius, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular ... |
OMIM:616897 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal metacarpal morphol... |
ORPHA:3219 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Splenomegaly, Patent foramen ovale, Inguinal hernia, Pulmonary arterial hyperte... |
OMIM:616028 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Short neck, Narrow pelvis bone, Cleft palate |
ORPHA:66637 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Lateral Meningocele Syndrome |
|
High, narrow palate, Dural ectasia, Umbilical hernia, Inguinal hernia, Ventricular septal defect,... |
ORPHA:2789 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe... |
OMIM:607323 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Syringomyelia, Spina bifida, Hydrocephalus, Dysphagia |
OMIM:207950 |
| Ciliary Dyskinesia, Primary, 44 |
|
Heterotaxy |
OMIM:618781 |
| Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, Short neck, Spina bifida, High palate, Rocker bottom foot, Cle... |
OMIM:616038 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Eec Syndrome |
|
Toe syndactyly, Xerostomia, Finger syndactyly, Ectrodactyly, Split foot, Aplasia/Hypoplasia of th... |
ORPHA:1896 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Talipes... |
OMIM:617022 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... |
OMIM:617927 |
| Orofaciodigital Syndrome Vi |
|
Hypoplastic left heart, Toe syndactyly, Short femur, Clinodactyly, Radial deviation of finger, Pr... |
OMIM:277170 |
| Wildervanck Syndrome |
|
Low posterior hairline, Webbed neck, Meningocele, Short neck |
ORPHA:3456 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Overlapping toe, Ventricular septal defect, Bicuspid aortic valve, Short neck, Broad... |
ORPHA:508498 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... |
ORPHA:363705 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Intestinal malrotation, Tetralogy of Fallot, Heart murmur, Heterotaxy, Su... |
ORPHA:3426 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Ventricular septal defect,... |
ORPHA:2308 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Umbilical hernia, Upper limb undergrowth, Short 5th metacarpal, Median clef... |
OMIM:169400 |
| Cerebrocostomandibular Syndrome |
|
Webbed neck, Hydranencephaly, Myelomeningocele, Ventricular septal defect, Short hard palate, Spi... |
ORPHA:1393 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Situs inversus totalis, Polydactyly, Brac... |
OMIM:615994 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Inguinal hernia, Polydactyly, Short neck, Flatte... |
OMIM:607131 |
| Suleiman-El-Hattab Syndrome |
|
Webbed neck, Clinodactyly, Inguinal hernia, Single transverse palmar crease, Polydactyly, Ventric... |
OMIM:618950 |
| Hoxha-Aliu Syndrome |
|
Overlapping toe, Absent fifth metatarsal, Atrial septal defect, High palate, Short distal phalanx... |
OMIM:620662 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Hydrocephalus |
ORPHA:858 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cardiomyopathy, Congestive heart failure, Abnormal long bone morph... |
ORPHA:52430 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Preaxial polydactyly, Overlapping fingers, Overlapping toe, Ventricular septal defect, Postaxial ... |
OMIM:618142 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... |
OMIM:113000 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... |
ORPHA:324410 |
| Developmental And Epileptic Encephalopathy 95 |
|
Macroglossia, Short distal phalanx of finger, Short fourth metatarsal, Umbilical hernia, Clinodac... |
OMIM:618143 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... |
ORPHA:90652 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, 2-3 finger syndactyly, 4-5... |
ORPHA:158687 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... |
OMIM:618300 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Atriove... |
OMIM:142900 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly, Situs inversus totalis |
OMIM:615985 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Neurocutaneous Melanocytosis |
|
Syringomyelia, Intracranial hemorrhage, Chorioretinal coloboma, Meningocele |
ORPHA:2481 |
| Ivic Syndrome |
|
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... |
OMIM:147750 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Lateral Meningocele Syndrome |
|
Dural ectasia, Umbilical hernia, Inguinal hernia, Ventricular septal defect, Syringomyelia, Bicus... |
OMIM:130720 |
| Cloacal Exstrophy |
|
Intestinal duplication, Bladder exstrophy, Intestinal malrotation, Myelomeningocele, Abnormal tib... |
ORPHA:93929 |
| Congenital Sialidosis Type 2 |
|
Umbilical hernia, Abnormal EKG, Abnormal heart morphology, Hepatosplenomegaly, Protruding tongue,... |
ORPHA:93400 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hypertension, Patent ductus arteriosus, Short pa... |
ORPHA:79094 |
| Phaver Syndrome |
|
Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, V... |
ORPHA:2876 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Irregular ossification of hand bones, Short distal phalanx of the thumb, Cardiac rha... |
OMIM:109400 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Broad neck, Anal stenosis, Myelomeningocele, Situs inversus totalis, Ectopic anus, Short neck, Hy... |
OMIM:613686 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Foot oligodactyly, Portal hypertension, Splenomegaly, Ventricular septal... |
OMIM:616589 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly, Cleft palate |
ORPHA:1300 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Cleft palate, Syndactyly |
OMIM:300484 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Bifid uvula, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia,... |
ORPHA:2753 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
| Ritscher-Schinzel Syndrome 2 |
|
Broad neck, Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly... |
OMIM:300963 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Retinal coloboma, Hamartoma of tongue, Preaxial polydactyly, Anenc... |
OMIM:616546 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| D-Bifunctional Protein Deficiency |
|
Splenomegaly, Talipes equinovarus, Split hand, Hepatomegaly, High palate, Hammertoe |
OMIM:261515 |
| 3P25.3 Microdeletion Syndrome |
|
High, narrow palate, Broad thumb, Broad hallux, Proximal placement of thumb, Overlapping toe, Ven... |
ORPHA:435638 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Intestinal malrotation, Ulnar bowing, Single tra... |
OMIM:617866 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hydromyelia, Ectrodactyly, Umbilical hernia, Corneal neovascularization, Inguinal hernia, Neonata... |
OMIM:308205 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Hypoplastic left heart, Broad thumb, Gastroesophageal reflux, Prominent fingertip pads, Genu valg... |
OMIM:619721 |
| Hartsfield Syndrome |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodactyly, Lobar holoprosencephaly, Cle... |
OMIM:615465 |
| Trisomy 20P |
|
Finger syndactyly, Umbilical hernia, Preaxial hand polydactyly, Camptodactyly of finger, Abnormal... |
ORPHA:261318 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Tricuspid regurgitation, Increased nuchal tr... |
OMIM:619879 |
| Nail-Patella Syndrome |
|
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... |
OMIM:161200 |
| Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
| Coach Syndrome 1 |
|
Occipital encephalocele, Portal hypertension, Encephalocele, Splenomegaly, Coloboma, Postaxial ha... |
OMIM:216360 |
| Joubert Syndrome 7 |
|
Postaxial polydactyly, Genu valgum, Encephalocele, Postaxial hand polydactyly |
OMIM:611560 |
| Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... |
ORPHA:57777 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Short palm, Preaxial fo... |
OMIM:252100 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Ventricular septal defect, Atrial s... |
OMIM:620663 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly, Bicuspid aortic valve, Hepatosplenomegaly, Esophageal varix |
OMIM:618955 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Total anomalous pulmonary venous return, Intestinal malrotation, Mitral atresia, Atrioventricular... |
OMIM:616749 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Semilobar holoprosencephaly, Xerostomia, Toe syndactyly, Split foot, Inguinal hernia, Absence of ... |
OMIM:129900 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... |
ORPHA:615 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Ventricular septa... |
OMIM:256520 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... |
OMIM:618164 |
| Subependymal Nodular Heterotopia |
|
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele |
ORPHA:101030 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Colitis |
ORPHA:88643 |
| Hypoglossia-Hypodactylia |
|
Adactyly, Aglossia, Microglossia, Split hand |
OMIM:103300 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, High palate, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Clinodactyly, Patent foramen ovale, Talipes equinovarus, Short neck, Coloboma, Transposition of t... |
OMIM:616789 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Dysphagia, Pseudobulbar paralysis |
OMIM:606353 |
| 9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Abnormal heart morphology, Polydactyly, Syringomyelia, Gastrointestin... |
ORPHA:531151 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Meningocele, Glossoptosis, Chorioretinal coloboma |
ORPHA:2031 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... |
OMIM:602782 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Joint contracture of the hand, Hyporeflexia of upper limbs, Hand muscle weakness, Hand muscle atr... |
ORPHA:90658 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular septal defect... |
OMIM:146510 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Epiphyseal stippling, Splenomegaly, Inguinal hernia, Cardiomegaly, Hepatomegaly |
OMIM:256550 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept... |
OMIM:192350 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Dextrotransposi... |
OMIM:619657 |
| Enlarged Parietal Foramina |
|
Broad thumb, Occipital encephalocele, Myelomeningocele, Short clavicles, Cleft palate |
ORPHA:60015 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Encephalocele, Humeroradial synostosis, Limited elbow movement, Ventricular septa... |
OMIM:134780 |
| Naxos Disease |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Congestive heart failure, Abnormal heart morpho... |
OMIM:601214 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Telangiectasia, Cardiomegaly... |
OMIM:235200 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Mesomelia, Short distal phalanx of finger, Hypoplastic scapulae, Short uvula, Micromelia, Polydac... |
OMIM:614091 |
| Tarp Syndrome |
|
Rocker bottom foot, Meckel diverticulum, Subdural hemorrhage, Clinodactyly, Tetralogy of Fallot, ... |
OMIM:311900 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615986 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Xerostomia, Anteriorly placed anus, Ectrodactyly, Split foot, Abse... |
OMIM:604292 |
| Adult Syndrome |
|
Toe syndactyly, Split hand, Split foot |
OMIM:103285 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Aplasia of the distal pha... |
ORPHA:3472 |
| Joubert Syndrome 22 |
|
2-3 toe syndactyly, Coloboma, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:615665 |
| Joubert Syndrome 23 |
|
Coloboma, Polydactyly |
OMIM:616490 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Median cleft pal... |
ORPHA:1827 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Dysphagia, Abnorm... |
ORPHA:275872 |
| Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Tethered cord, Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Bilate... |
OMIM:600145 |
| Phakomatosis Pigmentokeratotica |
|
Hemiatrophy, Arrhythmia, Coloboma, Raynaud phenomenon, Spina bifida |
ORPHA:2874 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Short tibia, Stillbirth, Preaxial polydactyly, Hamartoma of tongue, Hypoplastic pelvi... |
OMIM:616300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atre... |
ORPHA:59315 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:212140 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Aortic regurgitation, Dural ectasia, Transient ischemic attack, Ischemic str... |
ORPHA:91387 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... |
ORPHA:959 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Postaxial polydacty... |
OMIM:258860 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly, Arrhythmia, Short fourth metatarsal |
OMIM:266500 |
| Synpolydactyly 2 |
|
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Split hand, Clubbing, C... |
OMIM:600460 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... |
OMIM:261740 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Tricuspid regurgitation, Cerebral hemorrhage, Intracranial hemorrhage, Finger jo... |
OMIM:620371 |
| Isolated Posterior Meningocele |
|
Hydromyelia, Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipit... |
ORPHA:268810 |
| Constricting Bands, Congenital |
|
Encephalocele, Gastroschisis, Talipes equinovarus, Hand polydactyly, Ectopia cordis, Omphalocele,... |
OMIM:217100 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Ventricular septal defect, Postaxial polydactyly, Brachydactyly, Hy... |
OMIM:617895 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Abnormal anterior horn cell morphology, Interphalangeal joint contracture of finger, Elbow flexio... |
ORPHA:1145 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cystic hygroma, Bifid uvula, Gastroesophageal reflux, Abnormal heart morphology, Furrowed tongue,... |
ORPHA:453499 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Gastroesophageal reflux, Occipital encephalocele, Cone-shaped epiphysis, Rhizomelic arm shortenin... |
ORPHA:397715 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Protruding tongue, Anal atresia, H... |
OMIM:200990 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Abnormal metacarpoph... |
ORPHA:465508 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Thin metatarsal cortices, Small hypothenar eminence, Thin metacarpal cortices, Slender long bone,... |
ORPHA:2463 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... |
OMIM:619051 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy... |
OMIM:114290 |
| Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... |
OMIM:101600 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Hamartoma of tongue, Intestinal m... |
OMIM:613091 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Dilated cardiomyopathy, Elbow flexion contracture, Antenatal intracerebral hemorrhag... |
OMIM:608836 |
| Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Large placenta, Bowing of the ... |
OMIM:249000 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Dysphagia, Amyotrophic lateral sclerosis |
OMIM:616437 |
| Waardenburg Syndrome Type 1 |
|
Aganglionic megacolon, Meningocele, Spina bifida, Cleft palate |
ORPHA:894 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia |
OMIM:614702 |
| Pagod Syndrome |
|
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Arrhythmia, Spina bifida, Omphaloc... |
ORPHA:991 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Proximal muscle weakness in upper limbs, Dysphagia, Amyot... |
OMIM:613954 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Spina bifida, Hypo... |
ORPHA:3412 |
| Orofaciodigital Syndrome I |
|
Clinodactyly, Radial deviation of finger, Hamartoma of tongue, Ankyloglossia, Myelomeningocele, S... |
OMIM:311200 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Amish Lethal Microcephaly |
|
Hepatomegaly, Cleft soft palate, Spina bifida |
ORPHA:99742 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Abnormal upper motor neuron morp... |
OMIM:601162 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Short neck, Br... |
OMIM:268310 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Cuta... |
OMIM:101200 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Median cleft palate, Tibial bowing,... |
OMIM:612651 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Iris coloboma, Slender long bone, Chorioretinal coloboma, Optic disc colobom... |
OMIM:234100 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Mitral regurgitation, Ventricular septal defect, Postaxial polydactyly, Hydrocephalus, Atrial sep... |
OMIM:603387 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Stillbirth, Umbilical hernia... |
OMIM:308050 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Low poster... |
OMIM:180849 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:600649 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft palate |
OMIM:600776 |
| Conotruncal Heart Malformations |
|
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... |
OMIM:217095 |
| Carpenter Syndrome 2 |
|
Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Short neck, Atrial septal defect, ... |
OMIM:614976 |
| Diets-Jongmans Syndrome |
|
Umbilical hernia, Inguinal hernia, Heterotaxy, Ventricular septal defect, Hip dysplasia, Duodenal... |
OMIM:618846 |
| 22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Short neck, Atrial septal defect,... |
ORPHA:567 |
| 20P13 Microdeletion Syndrome |
|
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly |
ORPHA:313781 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Abnormality of the hand |
OMIM:221770 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Mesomelia, Webbed neck, Broad thumb, Clinodactyly, Anteriorly placed anus, Tricuspid regurgitatio... |
OMIM:616894 |
| Adult Syndrome |
|
Toe syndactyly, Finger syndactyly, Split foot |
ORPHA:978 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Postaxial foot polydactyly, Sandal gap, Optic disc coloboma, Hamartoma of tongue, An... |
OMIM:174300 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se... |
OMIM:263630 |
| Ogden Syndrome |
|
Torsade de pointes, Ventricular septal defect, Premature ventricular contraction, Arrhythmia, Sho... |
OMIM:300855 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembran... |
OMIM:620642 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... |
OMIM:620609 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction,... |
OMIM:201475 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Oligodactyly, Inguinal hernia, Aganglionic megacolon, Abno... |
ORPHA:2273 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... |
ORPHA:85167 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Gastroesophageal reflux |
ORPHA:3137 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Thickened nuchal skin fold |
ORPHA:100070 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Cardiomegaly, Dysphagia |
ORPHA:391428 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... |
OMIM:619142 |
| Mosaic Trisomy 16 |
|
Short forearm, Meckel diverticulum, Clinodactyly, Anteriorly placed anus, Short thumb, Abnormal h... |
ORPHA:1708 |
| Au-Kline Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Overlapping toe, Syringomyelia, Postaxial polydactyly, Deep... |
OMIM:616580 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly, Chorioretinal coloboma, Retinal coloboma |
ORPHA:2921 |
| Mucopolysaccharidosis Type 3 |
|
Atrioventricular block, Umbilical hernia, Reduced left ventricular ejection fraction, Avascular n... |
ORPHA:581 |
| Lathosterolosis |
|
Toe syndactyly, Postaxial foot polydactyly, Meningocele, Postaxial hand polydactyly, Hepatomegaly... |
ORPHA:46059 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Tracheoesophageal fistula, Intestinal atresia, Abnormal c... |
ORPHA:93941 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Inguinal hernia, Neonatal death, Arachnodactyly, Bowing of the long bone... |
OMIM:614437 |
| Joubert Syndrome 39 |
|
Postaxial polydactyly, Hypoplastic left heart, Occipital encephalocele, Joint contracture of the ... |
OMIM:619562 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Abnormal EKG, Reduced... |
ORPHA:268 |
| Idiopathic Pulmonary Hemosiderosis |
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Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur |
ORPHA:99931 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
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Short tibia, Tricuspid regurgitation, Cardiomegaly, Talipes equinovarus, Thickened nuchal skin fo... |
OMIM:620306 |
| Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Hand muscle weakness, Shoulder girdle muscle weakness, Abnormal up... |
OMIM:606070 |
| Orofaciodigital Syndrome Type 6 |
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Finger clinodactyly, Preaxial polydactyly, Hamartoma of tongue, Abnormal heart morphology, Hand p... |
ORPHA:2754 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
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Congenital hip dislocation, Umbilical hernia, Mitral valve prolapse, Cubitus valgus, Hydrocephalu... |
OMIM:104350 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Bifid uvula, Gastroesophageal reflux, Atrioventricular canal defect, Patent ductus arteriosus, Sp... |
OMIM:619480 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
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Amyotrophic lateral sclerosis, Abnormal upper motor neuron morphology, Retrocollis, Hand muscle a... |
OMIM:205100 |
| Histiocytoid Cardiomyopathy |
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Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
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Meningocele, Hip dislocation, Bilateral cleft palate |
ORPHA:2003 |
| Congenital Tricuspid Valve Dysplasia |
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Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
| Spastic Paralysis, Infantile-Onset Ascending |
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Abnormal lower motor neuron morphology, Dysphagia |
OMIM:607225 |
| Beck-Fahrner Syndrome |
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Cardiomegaly, High palate, Ventricular septal defect, Hip dysplasia |
OMIM:618798 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Adnp Syndrome |
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Broad thumb, Gastroesophageal reflux, Sandal gap, Oral-pharyngeal dysphagia, Umbilical hernia, Br... |
ORPHA:404448 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105550 |
| Cree Impaired Intellectual Development Syndrome |
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Webbed neck, Cutaneous finger syndactyly, Cleft soft palate, Coloboma, Rocker bottom foot |
OMIM:606851 |
| Laurin-Sandrow Syndrome |
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Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Joubert Syndrome 27 |
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Polydactyly |
OMIM:617120 |
| Laurence-Moon Syndrome |
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Abnormality of the hand, Polydactyly |
OMIM:245800 |
| Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Marfan Syndrome |
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High, narrow palate, Aortic regurgitation, Dural ectasia, Congestive heart failure, Protrusio ace... |
ORPHA:558 |
| Lumbar Syndrome |
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Myelomeningocele, Ectopic anus, Spina bifida, Anal atresia, Bladder exstrophy |
ORPHA:83628 |
| Bardet-Biedl Syndrome 1 |
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High, narrow palate, Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyl... |
OMIM:209900 |
| Miller-Dieker Lissencephaly Syndrome |
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Joint contracture of the hand, Abnormal heart morphology, Inguinal hernia, Single transverse palm... |
OMIM:247200 |
| Okamoto Syndrome |
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Aortic valve stenosis, Webbed neck, Anal stenosis, Gastroesophageal reflux, Exaggerated median to... |
ORPHA:2729 |
| Esophageal Atresia |
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Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Clinodactyly, Intestinal ... |
ORPHA:1199 |
| Mogs-Cdg |
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Hepatosplenomegaly, Overlapping fingers, Cardiomegaly, Left ventricular hypertrophy, Atrial septa... |
ORPHA:79330 |
| Retinitis Pigmentosa 51 |
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Polydactyly |
OMIM:613464 |
| Charge Syndrome |
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Chorioretinal coloboma, Abnormal tibia morphology, Aqueductal stenosis, Holoprosencephaly, Iris c... |
ORPHA:138 |
| Pseudoaminopterin Syndrome |
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Slender finger, Synostosis of carpal bones, Hip subluxation, Short thumb, Overlapping toe, Clinod... |
ORPHA:221120 |
| Cranioectodermal Dysplasia 2 |
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Mesomelia, Rhizomelia, Clinodactyly, Splenomegaly, Patent foramen ovale, Polydactyly, Inguinal he... |
OMIM:613610 |
| Familial Aortic Dissection |
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Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus |
ORPHA:229 |
| Polyglucosan Body Neuropathy, Adult Form |
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Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Ventric... |
OMIM:210710 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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High, narrow palate, Bifid uvula, Cystic hygroma, Exaggerated median tongue furrow, Intestinal ps... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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High, narrow palate, Bifid uvula, Cystic hygroma, Exaggerated median tongue furrow, Intestinal ps... |
ORPHA:352665 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Short tibia, Preaxial polydactyly, Hamartoma of tongue, Tetralogy of Fallot, Complete atrioventri... |
OMIM:617925 |
| Congenital Disorder Of Glycosylation, Type It |
|
Bifid uvula, Aborted sudden cardiac death, Dilated cardiomyopathy, Ventricular septal defect, Car... |
OMIM:614921 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hy... |
ORPHA:228308 |
| Stromme Syndrome |
|
Preaxial polydactyly, Intestinal malrotation, Jejunal atresia, Hydrocephalus, Stillbirth, Iris co... |
OMIM:243605 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Mitral valve prolapse, Arachnodactyly, Eosinophilic infiltration o... |
OMIM:610168 |
| Neu-Laxova Syndrome |
|
Bifid uvula, Micromelia, Submucous cleft hard palate, Spina bifida, Large hands, Cleft palate |
ORPHA:2671 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
| Williams Syndrome |
|
Genu valgum, Mitral regurgitation, Abnormality of the neck, Ventricular septal defect, Mitral val... |
ORPHA:904 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met... |
OMIM:619534 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... |
OMIM:615503 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Exaggerated median tongue furrow, Ventricular septal defect, Talipes equinovarus, He... |
OMIM:312870 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Dysphagia, Cervical spinal co... |
ORPHA:35689 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest |
OMIM:617713 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Mitral stenosis, Splenomegaly, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Arima Syndrome |
|
Postaxial foot polydactyly, Chorioretinal coloboma, Occipital meningocele, Postaxial hand polydac... |
OMIM:243910 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... |
OMIM:602433 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Absence Of The Pulmonary Artery |
|
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... |
ORPHA:980 |
| Aicardi Syndrome |
|
Optic disc coloboma, Hiatus hernia, Hepatoblastoma, Spina bifida, Proximal placement of thumb, Cl... |
OMIM:304050 |
