Synpolydactyly 1 |
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Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
Polydactyly, Preaxial Ii |
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Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Abnormal heart morphology, Abnormal hip bone morphology, Abnormality of the neck, Polydactyly, Up... |
ORPHA:294975 |
Syndactyly Type 2 |
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Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
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Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
Syndactyly, Type Iii |
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Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... |
OMIM:186100 |
Syndactyly Type 1 |
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2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... |
ORPHA:93402 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
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Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
Triphalangeal Thumb With Polysyndactyly |
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Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
Hallux Varus And Preaxial Polysyndactyly |
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Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
Lambert Syndrome |
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Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Congenital Radioulnar Synostosis |
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Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
Acropectorovertebral Dysplasia |
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Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi... |
OMIM:102510 |
Syndactyly, Type Iv |
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Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
Polydactyly, Postaxial, Type A1 |
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Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
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Syndactyly, Hydrocephalus, Postaxial hand polydactyly |
OMIM:615938 |
Wahab Syndrome |
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Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
Syndactyly Type 5 |
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Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... |
ORPHA:93406 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
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Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia |
ORPHA:71289 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
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Short toe, Syndactyly |
OMIM:614341 |
Camptosynpolydactyly, Complex |
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Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
Syndactyly Type 3 |
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Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
Crossed Polysyndactyly |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
Polydactyly, Postaxial, Type A5 |
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Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
Heart-Hand Syndrome, Slovenian Type |
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Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
Greig Cephalopolysyndactyly Syndrome |
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Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... |
ORPHA:380 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
Greig Cephalopolysyndactyly Syndrome |
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Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... |
OMIM:175700 |
Ulnar Hemimelia |
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Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
Spinal Muscular Atrophy With Impaired Intellectual Development |
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Syndactyly |
OMIM:271109 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
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Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... |
OMIM:609432 |
Split-Hand/Foot Malformation 4 |
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Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
Verheij Syndrome |
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Short 5th finger, Branchial cyst, Clinodactyly, Ventricular septal defect, Truncus arteriosus, Sh... |
OMIM:615583 |
Acropectoral Syndrome |
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Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
Acropectorovertebral Dysplasia |
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Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
Carpenter Syndrome |
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Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... |
ORPHA:65759 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Branchial cyst, Finger syndactyly, Single transverse palmar crease, Camptodactyly, Tapered finger |
ORPHA:435938 |
Branchiogenic-Deafness Syndrome |
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Short distal phalanx of finger, Branchial fistula, Branchial cyst |
OMIM:609166 |
Split-Hand/Foot Malformation 1 |
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Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... |
OMIM:183600 |
15Q11Q13 Microduplication Syndrome |
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Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
Liebenberg Syndrome |
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Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... |
OMIM:186550 |
Chromosome 2Q35 Duplication Syndrome |
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2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
Syndactyly Type 4 |
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Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow |
ORPHA:3268 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Ectrodactyly-Polydactyly Syndrome |
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Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
X-Linked Mandibulofacial Dysostosis |
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Webbed neck, Pulmonic stenosis, Branchial anomaly, Abnormal mitral valve morphology |
ORPHA:1131 |
Syndactyly, Type V |
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Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... |
OMIM:186300 |
Polydactyly, Preaxial Iv |
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Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... |
OMIM:174700 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly |
OMIM:600384 |
Split-Hand/Foot Malformation 6 |
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Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
Nevus Comedonicus Syndrome |
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Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Brachydactyly, Type B1 |
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Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... |
OMIM:113000 |
Aplasia Cutis Congenita |
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Toe syndactyly, Finger syndactyly, Spinal dysraphism |
ORPHA:1114 |
Brachydactyly-Syndactyly Syndrome |
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Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
Santos Syndrome |
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Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
Brachydactyly Type B |
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Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
Fibular Hemimelia |
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Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... |
ORPHA:93323 |
Branchiogenic Deafness Syndrome |
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Short distal phalanx of finger, Osteolytic defects of the distal phalanges of the hand, Branchial... |
ORPHA:50815 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
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Cystic hygroma, Hydranencephaly, Single transverse palmar crease, Neonatal death, 2-3 toe syndact... |
OMIM:236500 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... |
OMIM:603546 |
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
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Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... |
OMIM:225280 |
Brachydactyly Type B2 |
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Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San... |
ORPHA:261330 |
Aminopterin/Methotrexate Embryofetopathy |
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Spinal dysraphism, Micromelia, Finger syndactyly, Tetralogy of Fallot, Situs inversus totalis, En... |
ORPHA:1908 |
Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Thickened nuchal skin fold, Myelomeningoce... |
ORPHA:2437 |
Aminopterin Syndrome Sine Aminopterin |
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Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Arachnodactyly, Brach... |
OMIM:600325 |
Holt-Oram Syndrome |
|
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... |
ORPHA:392 |
Split-Hand/Foot Malformation 2 |
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Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
Branchiootic Syndrome 3 |
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Branchial cyst |
OMIM:608389 |
Femur-Fibula-Ulna Complex |
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Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ... |
ORPHA:166024 |
Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
Brachydactyly, Type B2 |
|
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... |
OMIM:611377 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
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Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
Neuralgic Amyotrophy |
|
Redundant neck skin, Upper limb amyotrophy, Scapular winging, Syndactyly |
ORPHA:2901 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
Gordon Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger |
ORPHA:376 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Brachydactyly, Osteolysis involvi... |
ORPHA:88630 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Branchia... |
ORPHA:453499 |
Branchiootic Syndrome 1 |
|
Branchial fistula |
OMIM:602588 |
Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... |
OMIM:300244 |
Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor... |
OMIM:619217 |
Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus, Syndactyly |
OMIM:215850 |
White Forelock With Malformations |
|
Spina bifida occulta, Clinodactyly of the 5th finger, Atrial septal defect, Finger syndactyly |
ORPHA:2475 |
Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Short neck, Hydrocephalus, Patent ductus arteriosus |
ORPHA:251046 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi... |
ORPHA:2839 |
Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Abnormal heart morphology, Narrow palm, Holoprosencephaly, Syndactyly |
ORPHA:1445 |
Grange Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly |
ORPHA:79094 |
Monosomy 5P |
|
Small hand, Finger syndactyly, Short neck |
ORPHA:281 |
Holoprosencephaly |
|
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... |
ORPHA:2162 |
Sclerosteosis |
|
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... |
ORPHA:3152 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
Hoxha-Aliu Syndrome |
|
Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Short distal phalanx of the 5th f... |
OMIM:620662 |
Poland Syndrome |
|
Hypoplasia of deltoid muscle, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Sy... |
OMIM:173800 |
Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... |
ORPHA:1263 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Palmoplantar keratoderma, Syndactyly |
OMIM:613576 |
Distal 22Q11.2 Microduplication Syndrome |
|
Webbed neck, Toe syndactyly, Branchial fistula, Camptodactyly of finger, Ventricular septal defec... |
ORPHA:261337 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Clinodactyly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular sept... |
ORPHA:369891 |
Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Lo... |
OMIM:220210 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Ventricular septal defect, Hydrocephalus, Syndactyly |
OMIM:602501 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... |
ORPHA:3210 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... |
ORPHA:2251 |
Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Bicuspid aortic valve, Patent ductus arteriosus, Syndactyly |
OMIM:300049 |
Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... |
ORPHA:1517 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Duplication of phalanx of hallux, Atrial se... |
OMIM:263630 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Clinodactyly, Syndactyly |
OMIM:610023 |
Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly |
ORPHA:1406 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Broad neck, Prominent fingertip pads, Broad hallux, Camptodactyly... |
OMIM:300963 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of th... |
OMIM:609638 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Patent foramen ovale, Brachydactyly, Right atrial enlargement, Right ventricula... |
OMIM:616028 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... |
ORPHA:352665 |
Aarskog-Scott Syndrome |
|
Small hand, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Umbilical hern... |
ORPHA:915 |
Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Branchial fistula, Branchial cyst |
OMIM:113650 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Prominent fingertip pads, Branchial anomaly, Single transverse palmar crease, Brachydactyly, Shor... |
ORPHA:466950 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Umbilical hernia, Aplasia of... |
OMIM:308050 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb |
ORPHA:1825 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ventricular septal defect, Short neck, Short hallux, Dysplastic aortic valve, Pat... |
ORPHA:508488 |
Alg3-Cdg |
|
Metaphyseal chondrodysplasia, Cardiomyopathy, Abnormal limb bone morphology, Neural tube defect |
ORPHA:79321 |
Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... |
ORPHA:166119 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Low posterior hai... |
ORPHA:1520 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... |
OMIM:142900 |
Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Tetralogy of Fallot, Fibular aplasia, Aplasia/hyp... |
ORPHA:3320 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Ventricul... |
OMIM:600987 |
Hypomelanosis Of Ito |
|
Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly |
OMIM:300337 |
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Clino... |
OMIM:620663 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Webbed neck, Tetralogy of Fallot, Overlapping toe, Overlapping fingers, P... |
OMIM:618316 |
Branchiootic Syndrome |
|
Branchial fistula |
ORPHA:52429 |
Pfeiffer Syndrome Type 1 |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... |
ORPHA:93258 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, Complete atrioventricular canal defect, 2-3 toe synda... |
OMIM:217085 |
Bor Syndrome |
|
Branchial cyst |
ORPHA:107 |
Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Single transverse palmar crease, Ventricular septal defe... |
OMIM:272440 |
Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... |
ORPHA:3447 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Short... |
ORPHA:2994 |
Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Tetralogy of Fallot, Absent hand, Abnormal pul... |
ORPHA:974 |
Triploidy |
|
Finger syndactyly, Short neck, Hydrocephalus, Abnormal cardiac septum morphology, Meningocele, Ho... |
ORPHA:3376 |
Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Brachydactyly, Syndactyly |
OMIM:616589 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5th finger, Synd... |
ORPHA:397590 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... |
OMIM:607323 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S... |
OMIM:619451 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Ventricular septal defect, Hypo... |
ORPHA:2256 |
Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Occipital encephalocele, Increased nuchal translucency, Bowing of the... |
OMIM:619879 |
Oligomeganephronia |
|
Secundum atrial septal defect, Branchial cyst |
ORPHA:2260 |
ERI1-related disease |
|
Slender metacarpals, Oligodactyly, Abnormal heart morphology, Clinodactyly of the 5th finger, Lim... |
OMIM:608739 |
Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra... |
ORPHA:1515 |
Kbg Syndrome |
|
Webbed neck, Finger clinodactyly, Single transverse palmar crease, Short neck, Cutaneous syndacty... |
ORPHA:2332 |
Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Short forearm, Short thumb, Clinodactyly, Abnormal heart morphology, Larg... |
ORPHA:1708 |
Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615986 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Congenital hip dislocation, Umbilical hernia, Mitral valve prolapse, Cubitus valgus, Hydrocephalu... |
OMIM:104350 |
Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... |
OMIM:101600 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Short thumb, Delayed eruption of teeth, Overlapping toe, Distally placed thumb, Encephalocele, Si... |
OMIM:619148 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Webbed neck, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equinova... |
OMIM:617822 |
3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Finger syndactyly, Tetralogy of Fallot, Atrioventr... |
ORPHA:7 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Short neck, Spina bifida occulta, M... |
ORPHA:2311 |
Cenani-Lenz Syndactyly Syndrome |
|
Broad hallux, Radioulnar synostosis, Pulmonic stenosis, Hypoplasia of the radius, Hypoplasia of t... |
OMIM:212780 |
Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda... |
OMIM:613684 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Talipes equinovarus, Short neck, Brachydactyly, Hip... |
OMIM:619762 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Ventricular septal defect, Postaxial polydactyly, Brachydactyly, Hy... |
OMIM:617895 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Clinodactyly, Syndactyly |
OMIM:619091 |
Limb-Mammary Syndrome |
|
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly |
OMIM:603543 |
Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Neonatal dea... |
OMIM:146510 |
Craniorachischisis |
|
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Bilateral single transverse palm... |
ORPHA:1001 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Pericardial lymphangiectasia, Syndactyly |
OMIM:616006 |
Craniosynostosis, Herrmann-Opitz Type |
|
Webbed neck, Micromelia, Finger syndactyly, Brachydactyly, Split hand |
ORPHA:2145 |
Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... |
OMIM:252100 |
Acrofacial Dysostosis, Catania Type |
|
Webbed neck, Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bif... |
ORPHA:1786 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... |
OMIM:618164 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Arachnodactyly, Clinodactyly, Syndactyly |
OMIM:619092 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... |
OMIM:614091 |
Laurence-Moon Syndrome |
|
Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
Acrofacial Dysostosis, Palagonia Type |
|
Small hand, Finger syndactyly, Short 4th metacarpal, Short neck, Spina bifida occulta |
ORPHA:1787 |
Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Short neck, Brachydactyly, Hip dyspla... |
ORPHA:710 |
Limb Body Wall Complex |
|
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... |
ORPHA:2369 |
Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Broad hallux, Redundant neck skin, Hand polydactyly, Thickened nuchal skin fold, Syn... |
OMIM:239710 |
2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... |
ORPHA:251014 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Cardiomyopathy, Redundant neck skin, Short neck, Brachydactyly, Abnormal cardiac se... |
OMIM:217980 |
17Q12 Microduplication Syndrome |
|
Atrial septal defect, Toe syndactyly, Finger syndactyly |
ORPHA:261272 |
Constricting Bands, Congenital |
|
Encephalocele, Talipes equinovarus, Hand polydactyly, Ectopia cordis, Syndactyly |
OMIM:217100 |
Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Single transvers... |
OMIM:615777 |
Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Neonatal death, V... |
OMIM:256520 |
Acrocardiofacial Syndrome |
|
Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis,... |
ORPHA:2008 |
Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat... |
OMIM:305450 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Natal tooth, Broad hallux, Branchial cyst, Clinodactyly, Single transverse palmar crease, Patent ... |
OMIM:620186 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
Curry-Jones Syndrome |
|
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio... |
OMIM:601707 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Short neck, Br... |
OMIM:268310 |
Focal Dermal Hypoplasia |
|
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... |
ORPHA:2092 |
X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, Ventricular sept... |
ORPHA:96201 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... |
OMIM:605432 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, ... |
OMIM:614701 |
Cenani-Lenz Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... |
ORPHA:3258 |
Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
Acrootoocular Syndrome |
|
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Delayed eruption of teeth, Decrea... |
ORPHA:2980 |
Poland Syndrome |
|
Small hand, Finger syndactyly, Encephalocele, Low posterior hairline, Aplasia/Hypoplasia of the t... |
ORPHA:2911 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly |
OMIM:601163 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single ... |
OMIM:612651 |
Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Delayed eruption of teeth, Syndactyly |
OMIM:619736 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... |
ORPHA:1106 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Shor... |
OMIM:305400 |
Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... |
ORPHA:93259 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, Short neck, Spina bifida, Rocker bottom foot |
OMIM:616038 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... |
OMIM:101200 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal defect, Postaxial poly... |
OMIM:615503 |
Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn... |
OMIM:601005 |
Fg Syndrome Type 1 |
|
Broad neck, Clinodactyly of the 2nd finger, Finger syndactyly, Umbilical hernia, Abnormal thumb m... |
ORPHA:93932 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, 2-3 finger syndactyly, 4-5 finge... |
ORPHA:158687 |
Schizophrenia 1 |
|
Short proximal phalanx of the 4th toe, Syndactyly |
OMIM:181510 |
Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Bi... |
ORPHA:1507 |
Isolated Split Hand-Split Foot Malformation |
|
Oligodactyly, Absent hand, Split hand, Finger syndactyly |
ORPHA:2440 |
Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
19P13.12 Microdeletion Syndrome |
|
Toe clinodactyly, Sandal gap, Finger syndactyly, Ventricular septal defect, Deep palmar crease, S... |
ORPHA:254346 |
Tarp Syndrome |
|
Clinodactyly, Tetralogy of Fallot, Single transverse palmar crease, Neonatal death, Postaxial pol... |
OMIM:311900 |
Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... |
ORPHA:1553 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Branchial fistula, Encephalocele |
ORPHA:861 |
Femoral-Facial Syndrome |
|
Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Ventricular septa... |
OMIM:134780 |
Oculodentodigital Dysplasia |
|
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... |
ORPHA:2710 |
Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... |
ORPHA:3429 |
Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Branchial fistula, Short thumb, Clinodactyly, Radial deviation of fin... |
OMIM:613406 |
Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... |
ORPHA:887 |
Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Tetralogy of Fallot, Ventricular sept... |
OMIM:192350 |
Silver-Russell Syndrome 3 |
|
Clinodactyly of the 5th finger, Small hand, Patent ductus arteriosus, Syndactyly |
OMIM:616489 |
Filippi Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Ventricular septal defect, Clinoda... |
ORPHA:3255 |
Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Umbilical hernia, Syndactyly |
OMIM:614520 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly, Subvalvular aortic stenosis, Patent ductus arteriosus |
ORPHA:1338 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Short neck, Brachydactyly,... |
OMIM:614800 |
Ring Chromosome 12 Syndrome |
|
Webbed neck, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Abnormal 5t... |
ORPHA:1439 |
20P13 Microdeletion Syndrome |
|
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly |
ORPHA:313781 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Webbed neck, Broad thumb, Clinodactyly, Patent foramen ovale, Ventricular septal defect, Short ne... |
OMIM:616894 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Ventricular hypertrophy, Umbilical hernia, Increased nuchal translucency, Ventricular septal defe... |
OMIM:620654 |
Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
Bohring-Opitz Syndrome |
|
Short toe, Overlapping toe, Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Tape... |
OMIM:605039 |
Hamamy Syndrome |
|
Complete atrioventricular canal defect, Down-sloping shoulders, Low posterior hairline, Long toe,... |
OMIM:611174 |
Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Umbilic... |
OMIM:200990 |
Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Ventr... |
ORPHA:2473 |
Isolated Posterior Meningocele |
|
Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel... |
ORPHA:268810 |
Silver-Russell Syndrome 1 |
|
Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle phalanx of t... |
OMIM:180860 |
Meckel Syndrome, Type 1 |
|
Webbed neck, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviation ... |
OMIM:249000 |
Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Umbilical hernia, Abnormal... |
ORPHA:261318 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Foot polydactyly |
ORPHA:60040 |
Orofaciodigital Syndrome Type 6 |
|
Finger clinodactyly, Preaxial polydactyly, Abnormal heart morphology, Hand polydactyly, Mesoaxial... |
ORPHA:2754 |
Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Short neck, Metatarsus adductus, Short metatarsal, Short metacar... |
OMIM:123450 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Webbed neck, Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Abnormal aortic valve ... |
ORPHA:2990 |
Robinow Syndrome |
|
Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Abnormal heart morpholo... |
ORPHA:97360 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Webbed neck, Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, ... |
ORPHA:2215 |
19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Ventricular sept... |
ORPHA:217346 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... |
ORPHA:2211 |
Branchiooculofacial Syndrome |
|
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Branchial anomaly, Single tran... |
OMIM:113620 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping... |
OMIM:265000 |
Pfeiffer Syndrome Type 3 |
|
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Aqueducta... |
ORPHA:93260 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Ventricular septal defect, Aplasia of the distal pha... |
ORPHA:3472 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly |
OMIM:226700 |
Orofaciodigital Syndrome I |
|
Clinodactyly, Radial deviation of finger, Myelomeningocele, Abnormal heart morphology, Polydactyl... |
OMIM:311200 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal metacarpal morphology, Toe syndactyly, Short hallux, Finger syndactyly |
ORPHA:3224 |
Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Talipes equinovarus, Spina bifida... |
ORPHA:63259 |
Cohen Syndrome |
|
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Mitral valve prolapse, ... |
ORPHA:193 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... |
ORPHA:1323 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Clinodactyly, Syndactyly |
OMIM:618087 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Atrial septal defect, Hip dislo... |
ORPHA:84 |
Blepharonasofacial Malformation Syndrome |
|
Low posterior hairline, Finger syndactyly |
ORPHA:1252 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, Contracture of the... |
ORPHA:464738 |
Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... |
ORPHA:3103 |
Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Natal tooth, Finger syndactyly, Short tibia, Complete duplication of ha... |
ORPHA:2751 |
Jacobsen Syndrome |
|
Toe clinodactyly, Webbed neck, Aortic valve stenosis, Toe syndactyly, Hypoplastic left heart, Fin... |
ORPHA:2308 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Syndactyly |
ORPHA:404451 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Short ... |
ORPHA:958 |
Townes-Brocks Syndrome 1 |
|
Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec... |
OMIM:107480 |
Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
Methylcobalamin Deficiency Type Cble |
|
Hydrocephalus, Clinodactyly, Syndactyly |
ORPHA:2169 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Caudal appendage, Single transverse palmar crease, Ventricular septal defe... |
OMIM:272950 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
Rubinstein-Taybi Syndrome |
|
Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, B... |
ORPHA:783 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Arachnodactyly, Toe syndactyly, Finger syndactyly, Short palm |
ORPHA:73246 |
Rubinstein-Taybi Syndrome 1 |
|
Broad thumb, Hypoplastic iliac wing, Mitral valve prolapse, Ventricular septal defect, Low poster... |
OMIM:180849 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hand polydactyly, ... |
ORPHA:1647 |
Bartsocas-Papas Syndrome |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Toe syndactyly, Absent thumb, Finger synd... |
ORPHA:1234 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Brachydactyly, Cli... |
ORPHA:1005 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger |
ORPHA:246 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Tetralogy of Fallot, Genu valgum, Branchial anomaly, Partial duplication... |
OMIM:164210 |
Bardet-Biedl Syndrome 6 |
|
Postaxial polydactyly, Syndactyly |
OMIM:605231 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract... |
OMIM:151050 |
Grange Syndrome |
|
Coronary artery stenosis, Finger clinodactyly, Bicuspid aortic valve, Brachydactyly, Syndactyly |
OMIM:602531 |
8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Short neck, Finger syndactyly, Camptodactyly of finger |
ORPHA:178303 |
Rothmund-Thomson Syndrome, Type 3 |
|
Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Proximal placeme... |
OMIM:615789 |
Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complete duplication of t... |
ORPHA:59315 |
Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, A... |
ORPHA:1519 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly |
ORPHA:1997 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
Cerebrofacioarticular Syndrome |
|
Caudal appendage, Abnormal heart morphology, Talipes equinovarus, Camptodactyly, Pulmonic stenosi... |
ORPHA:314679 |
Kbg Syndrome |
|
Webbed neck, Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse pal... |
OMIM:148050 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Webbed neck, Broad thumb, Toe syndactyly, Finger syndactyly, Short to... |
ORPHA:373 |
Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Bicuspid pulmonary valve, Umbilical hernia, Absent distal phalange... |
OMIM:610168 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Left ventricular h... |
OMIM:209900 |
Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Ventricular septal defect, Short neck, Abnormal me... |
ORPHA:818 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi... |
OMIM:263650 |
Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly |
OMIM:149000 |
Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
Roberts-Sc Phocomelia Syndrome |
|
Clinodactyly, Ventricular septal defect, Short neck, Abnormal metacarpal morphology, Atrial septa... |
OMIM:268300 |
Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
Microphthalmia, Lenz Type |
|
Webbed neck, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Abnormal shou... |
ORPHA:568 |
Apert Syndrome |
|
Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Delayed eruption of teeth, Aplasia/Hy... |
ORPHA:87 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th... |
ORPHA:570 |
Incontinentia Pigmenti |
|
Deviation of finger, Finger syndactyly, Delayed eruption of teeth, Camptodactyly of finger, Umbil... |
ORPHA:464 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly, Abnormal heart morphology, Syndactyly, Brachydactyly, Clinodactyly of the 5th finge... |
ORPHA:96182 |
Tarp Syndrome |
|
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Tetralogy of Fallot, Single trans... |
ORPHA:2886 |
Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Pili Torti-Onychodysplasia Syndrome |
|
Cutaneous syndactyly, Palmoplantar keratoderma |
ORPHA:2890 |
Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de... |
OMIM:269500 |
Crane-Heise Syndrome |
|
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... |
ORPHA:1512 |
Schinzel-Giedion Syndrome |
|
Short distal phalanx of finger, Short 1st metacarpal, Delayed eruption of teeth, Umbilical hernia... |
ORPHA:798 |
Prader-Willi Syndrome |
|
Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Hip dysplasia, Ac... |
OMIM:176270 |
Peters-Plus Syndrome |
|
Square pelvis bone, Limited elbow movement, Ventricular septal defect, Short neck, Atrial septal ... |
OMIM:261540 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Short neck, Syndactyly, Camptodactyly, Short metacarpal, Absent palmar crease |
OMIM:614230 |
Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Clinodactyly, Patent foramen ovale, Polydactyly, Short neck, Left ventricular hypertr... |
OMIM:613610 |
Saethre-Chotzen Syndrome |
|
Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ... |
ORPHA:794 |
Stolerman Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Broad palm, Syndactyly |
OMIM:618505 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... |
OMIM:603671 |
Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper... |
ORPHA:989 |
Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Umbilical hernia, Avas... |
ORPHA:3107 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Long neck, Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly o... |
OMIM:227330 |
Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly |
ORPHA:139471 |
Fontaine Progeroid Syndrome |
|
Short distal phalanx of finger, Umbilical hernia, Abnormal heart morphology, Absent distal phalan... |
OMIM:612289 |
Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla... |
OMIM:263750 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly |
ORPHA:66629 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short neck, Abnormal metacarpal morphology, Absent pa... |
ORPHA:284160 |
Saethre-Chotzen Syndrome |
|
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... |
OMIM:101400 |
Monosomy 13Q14 |
|
Webbed neck, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Short neck, Brachydactyly, Clino... |
ORPHA:1587 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Talipes equinovarus, Cutaneous syndactyly, Camptodactyly, 3-4 finge... |
OMIM:620029 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma... |
ORPHA:3253 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Webbed neck, Finger syndactyly, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovaru... |
OMIM:620025 |
Fraser Syndrome 3 |
|
Hydrocephalus, Cutaneous syndactyly, Short toe, Stillbirth |
OMIM:617667 |
Neurocardiofaciodigital Syndrome |
|
Tetralogy of Fallot, Polydactyly, Atrial septal defect, Double inlet left ventricle, Patent ductu... |
OMIM:619869 |
Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V... |
OMIM:216340 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Natal tooth, Broad hallux, Ab... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad distal phalanx of finger, Broad thumb, Natal tooth, Broad hallux, Ab... |
ORPHA:353277 |
Doors Syndrome |
|
Short 5th finger, Short distal phalanx of finger, Sirenomelia, Aplasia/Hypoplasia of the phalange... |
ORPHA:79500 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Aplastic clavicle, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis, Brachydact... |
ORPHA:2658 |
14Q22Q23 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single transverse palmar creas... |
ORPHA:264200 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, Webbed neck, Low posterior hairline, Unila... |
ORPHA:1521 |
Orofaciodigital Syndrome Type 1 |
|
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... |
ORPHA:2750 |
Degcags Syndrome |
|
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Patent foramen ovale, Polyda... |
OMIM:619488 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Finger syndactyly, Genu varum |
ORPHA:1969 |
Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly |
OMIM:129400 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Long neck, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th fing... |
ORPHA:1974 |
Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Short neck, Clinodactyly of the 5th finger, C... |
ORPHA:96123 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent foramen ovale, Ventricular septal defect, Hip dysplasia, Clinodactyly of the 5th finger, P... |
OMIM:616975 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Palmoplantar keratoderma, Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect... |
ORPHA:1071 |
Lacrimoauriculodentodigital Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal thumb morpho... |
ORPHA:2363 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly |
ORPHA:1300 |
Semilobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Hip dislocation, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Hip dislocation, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Hip dislocation, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal heart morphology, Hydrocephalus, Hip dislocation, Neural tube defect |
ORPHA:93924 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly |
OMIM:616430 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Common atrium, Unbalanced atrioventricular canal defect, Broad thumb, Secundum atrial septal defe... |
OMIM:619534 |
Limb-Mammary Syndrome |
|
Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy... |
ORPHA:69085 |
Eec Syndrome |
|
Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Split hand, Pro... |
ORPHA:1896 |
Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Delayed eruption of teeth, Single transverse palmar crease, Synda... |
OMIM:223370 |
Adult Syndrome |
|
Toe syndactyly, Finger syndactyly, Split foot |
ORPHA:978 |
Scalp-Ear-Nipple Syndrome |
|
Broad thumb, Finger syndactyly, 2-3 toe syndactyly, Cardiac myxoma, Clinodactyly of the 5th finge... |
OMIM:181270 |
Cutis Marmorata Telangiectatica Congenita |
|
Toe syndactyly, Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Patent ductu... |
ORPHA:1556 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Sandal gap, Umbilical hernia, Ventricular septal defect, Short neck, Cutaneous ... |
OMIM:620330 |
Hartsfield Syndrome |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Lobar holoprosencephaly, Syn... |
OMIM:615465 |
Bloom Syndrome |
|
Clinodactyly of the 5th finger, Hand polydactyly, Syndactyly |
OMIM:210900 |
Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Abnormal heart morph... |
ORPHA:110 |
Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence... |
ORPHA:2052 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
Trichorhinophalangeal Syndrome, Type Ii |
|
2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the... |
OMIM:150230 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... |
ORPHA:2907 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Pericardial effusion, Finger syndactyly, Camptodactyly of finger |
ORPHA:2136 |
Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... |
ORPHA:2753 |
Coffin-Siris Syndrome 12 |
|
Slender finger, Broad thumb, Short thumb, Tetralogy of Fallot, Patent foramen ovale, Radioulnar s... |
OMIM:619325 |
Mckusick-Kaufman Syndrome |
|
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly |
OMIM:236700 |
Proteus Syndrome |
|
Macrodactyly, Finger syndactyly, Abnormality of the wrist, Sirenomelia, Metatarsus valgus, Abnorm... |
ORPHA:744 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Broad hallux, Delayed eruption of teeth, Abnormal heart morphology, Long h... |
ORPHA:261537 |
Fraser Syndrome 2 |
|
Short neck, Cutaneous syndactyly |
OMIM:617666 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly, Syndactyly |
OMIM:618820 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Broad hallux, Delayed eruption of teeth, Abnormal heart morphology, Long h... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Broad hallux, Delayed eruption of teeth, Abnormal heart morphology, Tetral... |
ORPHA:2152 |
Kindler Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short... |
ORPHA:2908 |
Microphthalmia, Syndromic 6 |
|
Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl... |
OMIM:607932 |
Microphthalmia, Syndromic 1 |
|
Webbed neck, Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviat... |
OMIM:309800 |