| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Oxycephaly,... |
OMIM:201020 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Calvarial skull defect, Finger syndactyly |
ORPHA:1114 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Cutaneous finger syndactyly, Proxim... |
OMIM:185750 |
| Acalvaria |
|
Holoprosencephaly, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Calvarial skull defect |
ORPHA:945 |
| Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi... |
ORPHA:957 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Bilateral single transverse palmar creases, Cli... |
ORPHA:1891 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
| Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Talipes equinovarus, Joint contracture of the hand, Spina bifida, Camptodactyly, Small thenar emi... |
OMIM:211960 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Frontal Encephalocele |
|
Dolichocephaly, Spina bifida, Hydrocephalus, Calvarial skull defect |
ORPHA:1931 |
| Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Preaxial polydactyly, Finger syndactyly, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Metaphyseal irregularity, Streaky metaphyseal sclerosis, Carpal bone hypoplasia, Irregular epiphy... |
OMIM:603546 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Bifid distal phalanx of the thumb, Spina bifida occulta a... |
OMIM:102510 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostosis, Distal symphalangism of han... |
OMIM:185900 |
| Syndactyly Type 5 |
|
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
| Wahab Syndrome |
|
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... |
OMIM:615170 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Toe syndactyly, Intrauterine growth retardation, Brachycephaly, Cubitus valgus, Sp... |
ORPHA:1327 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Mental Retardation, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Radioulnar synostosis, Finger syndactyly |
ORPHA:71289 |
| Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet |
|
Broad metatarsal, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic ridge |
OMIM:275595 |
| Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Radial deviation of the thumb, Myelomeningocele, 3-4 finger synd... |
ORPHA:2437 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... |
ORPHA:93323 |
| Syndactyly Type 3 |
|
Short toe, Camptodactyly of finger, Finger syndactyly |
ORPHA:93404 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Broad thumb, Craniosynostosis, Finger syndactyly, Frontal b... |
ORPHA:380 |
| Brachydactyly Type A7 |
|
Broad phalanges of the 2nd toe, Hallux valgus, 2-3 toe syndactyly, Short hallux, Short middle pha... |
ORPHA:93397 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly, Finger syndactyly |
ORPHA:2935 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Joint contracture of the hand, Hydrocephalus, Broad hallux, Delayed cranial... |
OMIM:175700 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Brachydactyly, Type A2 |
|
Hallux valgus, 2-3 toe syndactyly, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Ap... |
OMIM:112600 |
| Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Cloverleaf skull, Craniosynostosis, Oxycephaly,... |
ORPHA:65759 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Cutaneous syndactyly |
OMIM:616890 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Craniosynostosis And Dental Anomalies |
|
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Sagittal cran... |
OMIM:614188 |
| Summitt Syndrome |
|
Craniosynostosis, Syndactyly, Oxycephaly |
OMIM:272350 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Anencephaly |
ORPHA:2476 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... |
ORPHA:157801 |
| Liebenberg Syndrome |
|
Elbow flexion contracture, Metaphyseal widening, Radially deviated wrists, 2-3 finger syndactyly,... |
OMIM:186550 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Split-Hand/Foot Malformation 1 |
|
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... |
OMIM:183600 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Large hands, Coarse metaphyseal trabecularization, Brachydactyly, Spina bi... |
ORPHA:3219 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Isolated Brachycephaly |
|
Midface retrusion, Brachydactyly, Metacarpal synostosis, Brachycephaly |
ORPHA:35099 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Cutaneous finger syndactyly, Myelomeningocele, Split hand, Hydrocephalus, Spina bifida occulta, S... |
OMIM:183802 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Tarsal synostosis, Abnormality of the ulna, Genu varum, Brachycephaly, Aplasia/Hypoplasia of the ... |
ORPHA:2633 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of the elbow, Radioulnar synostosis |
ORPHA:3268 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Cutaneous syndactyly, Talipes equinovarus |
OMIM:613681 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protrudin... |
ORPHA:2839 |
| Craniosynostosis, Philadelphia Type |
|
Craniosynostosis, Finger syndactyly |
ORPHA:1527 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly, Aplasia/Hypoplasia of toe |
OMIM:600384 |
| Chiari Malformation Type Ii |
|
Opisthotonus, Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus |
OMIM:207950 |
| Summitt Syndrome |
|
Plagiocephaly, Craniosynostosis, Finger syndactyly, Genu valgum, Camptodactyly of finger, Short p... |
ORPHA:3210 |
| Aminopterin Syndrome Sine Aminopterin |
|
Intrauterine growth retardation, Umbilical hernia, Brachycephaly, Arachnodactyly, Joint contractu... |
OMIM:600325 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Spindle-shaped finger, Delayed epiphyseal ossification, Genu valgum, Frontal bossing, Cutaneous s... |
ORPHA:166024 |
| Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Toe syndactyly, Midface retrusion, Brachycephaly, Aplasia/Hypoplasia of the... |
ORPHA:93258 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, 3-4... |
OMIM:609432 |
| Brachydactyly Type B2 |
|
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... |
ORPHA:140908 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Bilateral single tra... |
ORPHA:1120 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Joint contracture of the hand, Aplas... |
OMIM:113000 |
| Isolated Cloverleaf Skull Syndrome |
|
Midface retrusion, Craniosynostosis, Finger syndactyly |
ORPHA:2343 |
| Humero-Radial Synostosis |
|
Meningocele, Tarsal synostosis, Elbow ankylosis, Aplasia/Hypoplasia of the thumb, Abnormality of ... |
ORPHA:3265 |
| Muenke Syndrome |
|
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Capitate-hamate fusion, Brachyc... |
OMIM:602849 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Polydactyly |
OMIM:605231 |
| Schisis Association |
|
Spina bifida, Micromelia, Anencephaly |
ORPHA:63862 |
| Split-Hand/Foot Malformation 2 |
|
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
| Sclerosteosis |
|
Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand, Craniofacial hyper... |
ORPHA:3152 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... |
ORPHA:2019 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Brachycephaly, Finger syndactyly |
ORPHA:1514 |
| Mental Retardation, Autosomal Dominant 4 |
|
Midface retrusion, Syndactyly, Short toe |
OMIM:612581 |
| Caudal Duplication |
|
Spinal cord lesion, Spina bifida, Myelomeningocele |
ORPHA:1756 |
| Craniorachischisis |
|
Sirenomelia, Myelomeningocele, Anencephaly, Bifid sternum, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Sandal gap, Tethered cord, Cranial hyperostosis, Spinal dysraphism |
OMIM:612918 |
| Congenital Vertical Talus |
|
Equinus calcaneus, Myelomeningocele, Rocker bottom foot |
ORPHA:178382 |
| Jackson-Weiss Syndrome |
|
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Short metatarsal, Sym... |
ORPHA:1540 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... |
OMIM:274000 |
| Proximal Symphalangism |
|
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... |
ORPHA:3250 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Intrauterine growth retardation, Anencephaly, Aplasia/Hypoplasia of the thumb, Holop... |
ORPHA:1908 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... |
OMIM:611377 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Flat occiput, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Abnormality of finger, Abn... |
ORPHA:2511 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Spina bifida |
ORPHA:1104 |
| Jackson-Weiss Syndrome |
|
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Calcaneonavicular fusio... |
OMIM:123150 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Abnormal shoulder morphology |
ORPHA:2345 |
| Craniosynostosis 2 |
|
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Trigonocephaly, Craniosynostosis, Frontal... |
OMIM:604757 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... |
ORPHA:2141 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Trisomy 20P |
|
Plagiocephaly, Brachycephaly, Finger syndactyly, Frontal bossing, Spina bifida, Camptodactyly of ... |
ORPHA:261318 |
| Gordon Syndrome |
|
Clinodactyly of the 5th finger, Camptodactyly of finger, Finger syndactyly |
ORPHA:376 |
| Cranioectodermal Dysplasia |
|
Rhizomelia, Craniosynostosis, Abnormality of the metaphysis, Finger syndactyly, Frontal bossing, ... |
ORPHA:1515 |
| Blepharocheilodontic Syndrome 1 |
|
Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Metaphyseal Acroscyphodysplasia |
|
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... |
OMIM:250215 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Brachycephaly, Limb undergrowth, Thin calvarium, Massively thickened long bone cortices, Micromel... |
OMIM:122900 |
| Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Spina bifida, Sirenomelia |
ORPHA:3169 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... |
ORPHA:370010 |
| Gómez-López-Hernández Syndrome |
|
Midface retrusion, Hydrocephalus, Turricephaly, Brachycephaly |
ORPHA:1532 |
| Potocki-Shaffer Syndrome |
|
Brachycephaly, Wormian bones, Parietal foramina, Turricephaly, Brachydactyly, Single transverse p... |
OMIM:601224 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis |
OMIM:614416 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Intrauterine growth retardation, Brachycephaly, Craniosynostosis, Split hand, Finger syndactyly, ... |
ORPHA:2145 |
| Pfeiffer Syndrome |
|
Brachyturricephaly, Elbow ankylosis, Cloverleaf skull, Finger syndactyly, Syndactyly, Hydrocephal... |
OMIM:101600 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Toe clinodac... |
OMIM:300244 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Syndactyly, Camptodactyly, Joint contracture of the hand, Split hand |
OMIM:225280 |
| Craniofrontonasal Dysplasia |
|
Plagiocephaly, Broad hallux phalanx, Brachycephaly, Craniosynostosis, Congenital pseudoarthrosis ... |
ORPHA:1520 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Plagiocephaly, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndacty... |
OMIM:605282 |
| Mosaic Trisomy 9 |
|
Intrauterine growth retardation, Rocker bottom foot, Talipes equinovarus, Large fontanelles, Bipa... |
ORPHA:99776 |
| Nail-Patella Syndrome |
|
Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Iliac horns, Triceps aplasia, Gle... |
OMIM:161200 |
| White Forelock With Malformations |
|
Dolichocephaly, Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly |
ORPHA:2475 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Plagiocephaly, Midface retrusion, Brachycephaly, Unilambdoid synostosis, Hydrocephalus, Ulnar dev... |
OMIM:618577 |
| Boomerang Dysplasia |
|
Abnormality of the ulna, Abnormality of femur morphology, Finger syndactyly, Abnormality of the r... |
ORPHA:1263 |
| Enlarged Parietal Foramina |
|
Short clavicles, Myelomeningocele, Craniosynostosis, Symmetrical, oval parietal bone defects, Bro... |
ORPHA:60015 |
| Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Intrauterine growth retardation, Anencephaly, Polydactyly, Bowing of the long bones,... |
OMIM:603194 |
| Schizophrenia 1 |
|
Flat occiput, Syndactyly, Frontal bossing, Short proximal phalanx of the 4th toe |
OMIM:181510 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Large fontanelles, Brachycephaly, Bowing of the long bones, Craniosynostosis, Hyd... |
ORPHA:171839 |
| Mental Retardation, X-Linked, With Craniofacial Dysmorphism |
|
Plagiocephaly, Frontal bossing, Brachycephaly |
OMIM:300064 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Tapered finger, Holoprosencephaly, Short finger, Brachycephaly, Short toe, Brachydactyly |
OMIM:610680 |
| Craniosynostosis 6 |
|
Plagiocephaly, Brachycephaly, Craniosynostosis, Turricephaly, Delayed cranial suture closure, Spi... |
OMIM:616602 |
| Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
| Fatco Syndrome |
|
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... |
ORPHA:2492 |
| Filippi Syndrome |
|
Intrauterine growth retardation, 2-4 toe syndactyly, Finger clinodactyly, Cutaneous syndactyly, S... |
OMIM:272440 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... |
ORPHA:2378 |
| Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
| Trisomy 18 |
|
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Abnormality of the upper limb, N... |
ORPHA:3380 |
| Muenke Syndrome |
|
Tarsal synostosis, Plagiocephaly, Cone-shaped epiphysis, Brachycephaly, Carpal synostosis, Short ... |
ORPHA:53271 |
| Carpenter Syndrome 1 |
|
Genu varum, Joint contracture of the hand, Deviation of finger, Shallow acetabular fossae, Pseudo... |
OMIM:201000 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Flat occiput, Bicoronal synostosis, Delayed closure of the anterior fontanelle, Brachycephaly, Sp... |
OMIM:618736 |
| Monosomy 5P |
|
Intrauterine growth retardation, Small hand, Finger syndactyly |
ORPHA:281 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Triphalangeal thumb, Trigonocephaly, Arachnodactyly, Finger syndactyly, Frontal bossing, Short di... |
ORPHA:2994 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split hand, Brachyda... |
ORPHA:1406 |
| Pentasomy X |
|
Plagiocephaly, Small hand, Short foot, Hip dysplasia, Camptodactyly of finger, Clinodactyly of th... |
ORPHA:11 |
| Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Hallermann-Streiff Syndrome |
|
Brachycephaly, Metaphyseal widening, Wormian bones, Platybasia, Frontal bossing, Thin calvarium, ... |
OMIM:234100 |
| Anauxetic Dysplasia 3 |
|
Plagiocephaly, Short middle phalanx of finger, Midface retrusion, Spinal cord compression, Genu v... |
OMIM:618853 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Diastomatomyelia, Camptodactyly of finger |
ORPHA:1759 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Midface retrusion, Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Prominent occiput... |
OMIM:617895 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Triphalangeal thumb, Palmoplantar keratoderma, Finger syndactyly, Short thumb, Camptodactyly of f... |
ORPHA:2251 |
| Basal Cell Nevus Syndrome |
|
Irregular ossification of hand bones, Polydactyly, Palmar pits, Parietal bossing, Short distal ph... |
OMIM:109400 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Cornelia De Lange Syndrome 2 |
|
Intrauterine growth retardation, Brachycephaly, Small hand, Proximal placement of thumb, Short fo... |
OMIM:300590 |
| Iniencephaly |
|
Myelomeningocele, Rocker bottom foot, Talipes equinovarus, Anencephaly, Holoprosencephaly, Rhizom... |
ORPHA:63259 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Brachycephaly, Sandal gap, Syndactyly, Micromelia, Brachydactyly, Single transverse palmar crease |
OMIM:614800 |
| Crouzon Syndrome With Acanthosis Nigricans |
|
Midface retrusion, Craniosynostosis, Hydrocephalus, Brachycephaly |
OMIM:612247 |
| Pseudodiastrophic Dysplasia |
|
Midface retrusion, Talipes equinovarus, Brachycephaly, Rhizomelia, Frontal bossing, Camptodactyly... |
OMIM:264180 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Plagiocephaly, Intrauterine growth retardation, Brachycephaly, Hydrocephalus, Camptodactyly of fi... |
ORPHA:272 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Short clavicles, Abnormality of epiphysis morphology, Upper limb asymmetry, Finge... |
ORPHA:2092 |
| Laurence-Moon Syndrome |
|
Brachycephaly, Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, B... |
ORPHA:2377 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachycephaly, Frontal bossing, Abnormality of the metacarpal bones, Hydrocephalus, Turricephaly,... |
ORPHA:93262 |
| Cerebrocostomandibular Syndrome |
|
Meningocele, Hydranencephaly, Intrauterine growth retardation, Myelomeningocele, Spina bifida, Cl... |
ORPHA:1393 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Arrhinencephaly, Hand oligodactyly, Intrauterine growth retardation, Talipes equinovarus, Aplasia... |
ORPHA:1788 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... |
OMIM:246570 |
| Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Plagiocephaly, Tapered finger, Brachycephaly, Small hand, Hip dysplasia, Dolichocephaly, Prominen... |
OMIM:618672 |
| Phaver Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Myelomeningocele, Intrauterine growth retardation, Uln... |
ORPHA:2876 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormality of the wrist, Abnormal thumb morphology, Proximal placement of thumb, Finger syndactyly |
ORPHA:1825 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
| Mohr Syndrome |
|
Bilateral postaxial polydactyly, Metaphyseal irregularity, Partial duplication of the phalanges o... |
OMIM:252100 |
| Camptobrachydactyly |
|
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... |
ORPHA:1319 |
| Limb Body Wall Complex |
|
Short umbilical cord, Cutaneous finger syndactyly, Myelomeningocele, Anencephaly, Duplication of ... |
ORPHA:2369 |
| Endove Syndrome, Limb-Only Type |
|
Triangular tibia, Umbilical hernia, Absent proximal finger flexion creases, 3-4 finger syndactyly... |
OMIM:619217 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... |
OMIM:135750 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Plagiocephaly, Brachycephaly, Holoprosencephaly, Craniosynostosis, Short distal phalanx of finger... |
ORPHA:2163 |
| Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
| Vitamin K Antagonist Embryofetopathy |
|
Intrauterine growth retardation, Myelomeningocele, Epiphyseal stippling, Hydrocephalus, Short dis... |
ORPHA:1914 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Intrauterine growth retardation, Polydactyly, Small placenta, Short 5th finger, Frontal bossing, ... |
ORPHA:397590 |
| Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida |
OMIM:600122 |
| Ring Chromosome 21 Syndrome |
|
Narrow palm, Holoprosencephaly, Small hand, Syndactyly, Clinodactyly |
ORPHA:1445 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Syndactyly, Clinodactyly, Hand polydactyly |
OMIM:300337 |
| 6P22 Microdeletion Syndrome |
|
Clinodactyly, Hydrocephalus, Finger syndactyly |
ORPHA:251046 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Hydranencephaly, Talipes equinovarus, Clinodactyly of the 5th finger, Cutaneo... |
OMIM:236500 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Large fontanelles, Brachycephaly, Bowing of the long bones, Wor... |
ORPHA:2097 |
| Alkuraya-Kucinskas Syndrome |
|
Plagiocephaly, Adducted thumb, Talipes equinovarus, Hand clenching, Overlapping fingers, Hydrocep... |
OMIM:617822 |
| Phocomelia, Schinzel Type |
|
Meningocele, Fibular aplasia, Radial bowing, Hand oligodactyly, Intrauterine growth retardation, ... |
ORPHA:2879 |
| Menkes Disease |
|
Intrauterine growth retardation, Brachycephaly, Metaphyseal widening, Wormian bones, Metaphyseal ... |
OMIM:309400 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Syndactyly, Clinodactyly, Arachnodactyly |
OMIM:619092 |
| Cloacal Exstrophy |
|
Myelomeningocele, Talipes equinovarus, Absent foot, Hip dislocation, Spina bifida, Abnormality of... |
ORPHA:93929 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Hydrocephalus, Polydactyly |
OMIM:602501 |
| Ritscher-Schinzel Syndrome 1 |
|
Intrauterine growth retardation, Brachycephaly, Syndactyly, Hydrocephalus, Prominent occiput |
OMIM:220210 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Plagiocephaly, Hyperextensibility of the finger joints, Rhizomelia, Clinodactyly of the 3rd finge... |
OMIM:618821 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Intrauterine growth retardation, Trigonocephaly, Short toe,... |
ORPHA:2308 |
| Holt-Oram Syndrome |
|
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... |
OMIM:142900 |
| Weaver Syndrome |
|
Talipes equinovarus, Large hands, Abnormality of the metaphysis, Finger syndactyly, Sandal gap, C... |
ORPHA:3447 |
| Moebius Syndrome |
|
Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia involving the met... |
OMIM:157900 |
| Triploidy |
|
Meningocele, Intrauterine growth retardation, Holoprosencephaly, Finger syndactyly, Abnormality o... |
ORPHA:3376 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Rocker bottom foot, Brachycephaly, Narrow pelvis bone, Ulnar bowing, Arachnodactyly, Frontal boss... |
OMIM:207410 |
| Acrofrontofacionasal Dysostosis 2 |
|
Brachycephaly, Wide anterior fontanel, Syndactyly, Broad hallux, Hand polydactyly, Broad thumb |
OMIM:239710 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
2-3 toe syndactyly, Short 5th finger, Sandal gap, Broad hallux, Broad thumb, Cutaneous syndactyly... |
OMIM:600987 |
| Acrocephalopolysyndactyly Type Iii |
|
Lower limb undergrowth, Craniosynostosis, Oxycephaly, Preaxial hand polydactyly, Syndactyly, Broa... |
OMIM:101120 |
| Neu-Laxova Syndrome |
|
Opisthotonus, Intrauterine growth retardation, Large hands, Spina bifida, Prominent occiput, Micr... |
ORPHA:2671 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Diaphyseal thickening, Tibial bowing, Brachycephaly, Abnormality of epiphy... |
ORPHA:175 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Abnormal femoral neck/head morphology, Wide proximal femoral metaphysis, Abnormality of the elbow... |
ORPHA:163649 |
| Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Hallux valgus, Thickened calvaria, Brachycephaly, Avascular necrosis of the capital femoral epiph... |
OMIM:304950 |
| Curry-Jones Syndrome |
|
Cutaneous finger syndactyly, Broad thumb, Craniosynostosis, Syndactyly, Duplication of thumb phal... |
OMIM:601707 |
| Pfeiffer Syndrome Type 2 |
|
Broad hallux phalanx, Toe syndactyly, Cloverleaf skull, Broad thumb, Small hand, Finger syndactyl... |
ORPHA:93259 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Toe syndactyly, Abnormality of femur morp... |
ORPHA:84 |
| Pde4D Haploinsufficiency Syndrome |
|
Broad metatarsal, Upper limb undergrowth, Short middle phalanx of finger, Thickened calvaria, Con... |
ORPHA:439822 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Finger syndactyly, Frontal bossing, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal pha... |
ORPHA:2256 |
| Diabetic Embryopathy |
|
Frontal bossing, Spinal dysraphism, Hydrocephalus |
ORPHA:1926 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Syndactyly, Broad hallux |
OMIM:613684 |
| Endocrine-Cerebroosteodysplasia |
|
Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polydactyly, Holopr... |
OMIM:612651 |
| Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Midface retrusion, Excessive femoral anteversion, Hitc... |
ORPHA:56304 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Intrauterine growth retardation, Anencephaly, Bowing of the long bones, Hydrocephalu... |
OMIM:611134 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly |
ORPHA:2898 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Intrauterine growth retardation, Finger syndactyly, Camptodactyly of finger, Promine... |
ORPHA:2311 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Adducted thumb, Talipes equinovarus, Brachycephaly, Arachnodactyly, Frontal bossing, Camptodactyl... |
OMIM:615539 |
| Arthrogryposis, Distal, Type 4 |
|
Tibial deviation of toes, Deviation of the 2nd toe, Talipes equinovarus, Camptodactyly of 2nd-5th... |
OMIM:609128 |
| Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Toe syndactyly, Hydranencephaly, Intrauterine growth retardation, Rocker bo... |
OMIM:256520 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Flat occiput, Thickened calvaria, Large fontanelles, Brachycephaly, Abnormality of the metaphysis... |
ORPHA:2780 |
| Cleidocranial Dysplasia |
|
Short clavicles, Midface retrusion, Hypoplastic scapulae, Tapered finger, Abnormality of epiphysi... |
ORPHA:1452 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Tapered finger, Brachycephaly, Long fingers, Limb tremor, Tremor |
OMIM:218000 |
| Silver-Russell Syndrome 3 |
|
Finger clinodactyly, Syndactyly |
OMIM:616489 |
| Isolated Plagiocephaly |
|
Plagiocephaly, Midface retrusion, Frontal bossing |
ORPHA:35098 |
| Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Small hand, Finger syndactyly, Midface retrusion, Spina bifida occulta |
ORPHA:1787 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Broad thumb, Broad phalanx, Short 5th finger, Hip dislocation, Spina bifida, ... |
ORPHA:508498 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Intrauterine growth retardation, Synostosis of carpal bones, Finger syndactyly, Abnormality of ca... |
ORPHA:1323 |
| Isolated Hemihyperplasia |
|
Myelomeningocele |
ORPHA:2128 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... |
OMIM:615986 |
| Diaphanospondylodysostosis |
|
Narrow pelvis bone, Myelomeningocele |
ORPHA:66637 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Single transverse palmar crease, Lobar holoprosencephaly, Brachycephaly, Skul... |
OMIM:614701 |
| Acrodysostosis |
|
Abnormality of the ulna, Cone-shaped epiphysis, Midface retrusion, Epiphyseal stippling, Brachyce... |
ORPHA:950 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Plagiocephaly, Tapered finger, Small hand, Sandal gap, Short foot, Clinodactyly |
OMIM:618089 |
| 9P13 Microdeletion Syndrome |
|
Metopic synostosis, Brachycephaly, Hand tremor, Absent palmar crease, Clinodactyly of the 5th fin... |
ORPHA:324313 |
| Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Short distal phalanx of the 5th finger, Short middle phalanx of ... |
OMIM:180860 |
| Acromelic Frontonasal Dysostosis |
|
Polydactyly, Talipes equinovarus, Brachycephaly, Preaxial polydactyly, Syndactyly |
OMIM:603671 |
| Mental Retardation, Autosomal Dominant 36 |
|
Plagiocephaly, Hydrocephalus, Broad hallux, Prominent metopic ridge, Deviation of the 5th finger |
OMIM:616362 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Protrusio acetabuli, Sclerotic cranial sutures, Distal tapering of metatarsals, Metacarpal osteol... |
OMIM:259600 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly |
OMIM:215850 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Split hand, Syndactyly, Camptodactyly, Split foot |
OMIM:603543 |
| Acromelic Frontonasal Dysplasia |
|
Meningocele, Talipes equinovarus, Brachycephaly, Large fontanelles, Patellar hypoplasia, Aplasia/... |
ORPHA:1827 |
| Alg3-Cdg |
|
Abnormality of limb bone morphology, Neural tube defect, Metaphyseal chondrodysplasia |
ORPHA:79321 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Plagiocephaly, Brachycephaly, Syndactyly, Camptodactyly, Midface retrusion, Clinodactyly, Umbilic... |
ORPHA:369891 |
| Craniofacial Dyssynostosis With Short Stature |
|
Brachyturricephaly, Abnormal shape of the occiput, Brachycephaly, Frontal bossing, Hydrocephalus,... |
OMIM:218350 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Syndactyly, Brachydactyly, Calvarial skull defect |
OMIM:616589 |
| Vacterl With Hydrocephalus |
|
Arrhinencephaly, Intrauterine growth retardation, Hypoplasia of the radius, Hip dislocation, Spin... |
ORPHA:3412 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Intrauterine growth retardation, Brachycephaly, Postaxial polydactyly, Preaxial polydactyly, Over... |
OMIM:618142 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Tarsal synostosis, Thickened calvaria, Myelomeningocele, Large fontanelles, Bowi... |
ORPHA:90652 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Curry-Jones Syndrome |
|
Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Finger syndactyly, Foot polydacty... |
ORPHA:1553 |
| Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Synostosis of carpal bones, Finger syndactyly,... |
ORPHA:710 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Oligodactyly, Synostosis of carpal bones, Hypoplasia of the radius, Finger syndac... |
ORPHA:3258 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the ... |
ORPHA:94066 |
| Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Syndactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Syndactyly |
OMIM:300801 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Flat acetabular roof, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of the lon... |
OMIM:614091 |
| Vater/Vacterl Association |
|
Patent urachus, Triphalangeal thumb, Intrauterine growth retardation, Large fontanelles, Hypoplas... |
OMIM:192350 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Plagiocephaly, Tapered finger, Frontal bossing, Spina bifida, Tethered cord, Dolichocephaly |
OMIM:619480 |
| Pfeiffer Syndrome Type 3 |
|
Broad hallux phalanx, Toe syndactyly, Brachyturricephaly, Midface retrusion, Broad thumb, Small h... |
ORPHA:93260 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Finger syndactyly, Foot polydactyly, Frontal bossing, Hydrocephalus, Hand polydac... |
ORPHA:60040 |
| Bardet-Biedl Syndrome 8 |
|
Polydactyly, Brachycephaly |
OMIM:615985 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Dolichocephaly, Plagiocephaly, Brachycephaly |
OMIM:615433 |
| Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Talipes equinovarus, Finger syndactyly, Hydrocephalus, Short long bone, Short ti... |
ORPHA:1106 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Camptodactyly |
OMIM:614230 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Craniosynostosis, Trigonocephaly, Brachydactyly |
OMIM:618265 |
| Gorlin Syndrome |
|
Palmar pits, Brachycephaly, Arachnodactyly, Frontal bossing, Hydrocephalus, Brachydactyly |
ORPHA:377 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly |
OMIM:114150 |
| Isolated Osteopoikilosis |
|
Abnormal pelvis bone ossification, Abnormality of femur morphology, Tarsal sclerosis, Abnormality... |
ORPHA:166119 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Biparietal narrowing, Clinodactyly of the 5th finger |
ORPHA:2031 |
| 2Q37 Microdeletion Syndrome |
|
Toe syndactyly, Small hand, Finger syndactyly, Frontal bossing, Short metacarpal, Short foot, Bil... |
ORPHA:1001 |
| Aarskog-Scott Syndrome |
|
Broad palm, Small hand, Finger syndactyly, Short foot, Camptodactyly of finger, Short palm, Clino... |
ORPHA:915 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Intrauterine growth retardation, Abnormality of the elbow, Synost... |
ORPHA:1005 |
| Otofacioosseous-Gonadal Syndrome |
|
Talipes equinovarus, Brachycephaly, Wormian bones, Genu valgum, Frontal bossing, Carpal synostosi... |
OMIM:601976 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly |
OMIM:615284 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Broad thumb, Syndactyly |
OMIM:617364 |
| Larsen-Like Syndrome |
|
Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Frontal bossing, Wide ant... |
OMIM:608545 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma |
OMIM:613576 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Syndactyly, Abnormal pelvis bone morphology, Short long bone, Flat ace... |
ORPHA:1505 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly |
OMIM:601163 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Limited pronation/supination of forearm, Radial bowing, Ulnar bowing, Hip dislocation, Shallow ac... |
OMIM:605432 |
| Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the ulna, Syndactyly, Hypoplasia of the radius |
OMIM:212780 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Flat occiput, Broad hallux phalanx, Large fontanelles, Brachycephaly, Broad thumb, Finger syndact... |
ORPHA:2211 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Split hand,... |
ORPHA:392 |
| Muscle-Eye-Brain Disease |
|
Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
| Acrofrontofacionasal Dysostosis |
|
Midface retrusion, Brachycephaly, Abnormality of epiphysis morphology, Short distal phalanx of fi... |
ORPHA:1784 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Abnormal digit morphology, Spina bifida occulta, Palmoplantar cutis laxa, Brachycephaly |
OMIM:268850 |
| Apert Syndrome |
|
Toe syndactyly, Brachyturricephaly, Midface retrusion, Cloverleaf skull, Large fontanelles, Aplas... |
ORPHA:87 |
| Joubert Syndrome 20 |
|
Syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Humeroradial Synostosis With Craniofacial Anomalies |
|
Tarsal synostosis, Plagiocephaly, Brachycephaly, Frontal bossing, Carpal synostosis, Humeroradial... |
OMIM:236410 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Syndactyly, Syringomyelia |
ORPHA:404451 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Short distal phalanx of finger, Broad hallux, Camptodactyly, Clinodactyly, Overlappin... |
OMIM:300963 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Intrauterine growth retardation, Short distal phalanx of toe, Brachycephaly, Symphalangism affect... |
ORPHA:1292 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Intrauterine growth retardation, Adducted thumb, Talipes equinovarus, Brachycephaly, Large fontan... |
OMIM:219150 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Hypoplasia of the ulna, Syndactyly, Mesomelia |
OMIM:228940 |
| 15Q24 Microdeletion Syndrome |
|
Myelomeningocele, Small hand, Abnormality of toe, Proximal placement of thumb, Abnormal thumb mor... |
ORPHA:94065 |
| Cooper-Jabs Syndrome |
|
Brachycephaly, Proximal placement of thumb, Frontal bossing, Camptodactyly of finger, Abnormal hi... |
ORPHA:1488 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short 1st metacarpal, Camptoda... |
ORPHA:96334 |
| Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
| Subependymal Nodular Heterotopia |
|
Meningocele, Myelomeningocele |
ORPHA:101030 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Flat occiput, Toe syndactyly, Intrauterine growth retardation, Talipes equinovarus, Tapered finge... |
ORPHA:505237 |
| Isolated Split Hand-Split Foot Malformation |
|
Absent hand, Oligodactyly, Split hand, Finger syndactyly |
ORPHA:2440 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... |
ORPHA:3320 |
| Eem Syndrome |
|
Ectrodactyly, Finger syndactyly |
ORPHA:1897 |
| Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Genu varum, Short clavicles, Intrauterine growth retardation, Metaphy... |
OMIM:615777 |
| Acrofacial Dysostosis, Catania Type |
|
Intrauterine growth retardation, Small hand, Finger syndactyly, Bilateral single transverse palma... |
ORPHA:1786 |
| Contractural Arachnodactyly, Congenital |
|
Metatarsus adductus, Adducted thumb, Congenital finger flexion contractures, Talipes equinovarus,... |
OMIM:121050 |
| Distal Monosomy 10Q |
|
Tapered finger, Brachycephaly, Short metatarsal, Prominent metopic ridge, Craniosynostosis, Sanda... |
ORPHA:96148 |
| Opitz-Kaveggia Syndrome |
|
Plagiocephaly, Umbilical hernia, Delayed closure of the anterior fontanelle, Joint contracture of... |
OMIM:305450 |
| Lateral Meningocele Syndrome |
|
Meningocele, Syringomyelia, Wormian bones, Dural ectasia, Craniofacial hyperostosis, Prominent me... |
ORPHA:2789 |
| Grange Syndrome |
|
Syndactyly, Short palm |
ORPHA:79094 |
| Hamamy Syndrome |
|
Tapered finger, Brachycephaly, Long fingers, Craniosynostosis, Down-sloping shoulders, Syndactyly... |
OMIM:611174 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormality of femur morphology, Limb undergrowth, Finger syndactyly, Abnormal... |
ORPHA:3429 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Spina bifida occulta, Myelomeningocele |
OMIM:613686 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Plagiocephaly, Talipes equinovarus, Brachycephaly, Frontal bossing, Clinodactyly |
OMIM:616789 |
| Achard Syndrome |
|
Arachnodactyly, Broad skull, Brachycephaly |
OMIM:100700 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Widely spaced toes, Mitten deformity, Sandal gap, Syndactyly, Tapered distal phalanges of finger,... |
OMIM:609638 |
| Filippi Syndrome |
|
Enlarged epiphyses, Intrauterine growth retardation, Clinodactyly of the 5th toe, Finger syndacty... |
ORPHA:3255 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Wide anterior fontanel, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Broad palm, Intrauterine growth retardation, Epiphyseal stippling, Brachycephaly, Short metatarsa... |
OMIM:101800 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Brachycephaly, Trigonocephaly, Small hand, Bilateral single transverse palmar creases, Scaphoceph... |
ORPHA:459061 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anencephaly, Talipes equinovarus, Tapered finger, Trigonocephaly, Brachycephaly, Prominent metopi... |
OMIM:619148 |
| Bohring-Opitz Syndrome |
|
Broad palm, Intrauterine growth retardation, Tapered finger, Trigonocephaly, Short toe, Dislocate... |
OMIM:605039 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Tapered finger, Finger syndactyly, Camptodactyly, Single transverse palmar crease |
ORPHA:435938 |
| Lateral Meningocele Syndrome |
|
Meningocele, Syringomyelia, Wormian bones, Platybasia, Dural ectasia, Dolichocephaly, Umbilical h... |
OMIM:130720 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Arrhinencephaly, Intrauterine growth retardation, Occipital myelomeningocele, Talipe... |
ORPHA:567 |
| Antley-Bixler Syndrome |
|
Elbow ankylosis, Brachycephaly, Narrow pelvis bone, Craniosynostosis, Arachnodactyly, Frontal bos... |
ORPHA:83 |
| Tarp Syndrome |
|
Intrauterine growth retardation, Talipes equinovarus, Postaxial polydactyly, Large fontanelles, H... |
OMIM:311900 |
| Lathosterolosis |
|
Meningocele, Toe syndactyly, Intrauterine growth retardation, Postaxial foot polydactyly, Postaxi... |
ORPHA:46059 |
| Roberts Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... |
ORPHA:3103 |
| Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Toe syndactyly, Hallux valgus, Plagiocephaly, Lambdoidal craniosynostosi... |
OMIM:101400 |
| Adams-Oliver Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Absent hand, Split hand, Brachydactyly, Calvari... |
ORPHA:974 |
| Lumbar Syndrome |
|
Spina bifida, Myelomeningocele |
ORPHA:83628 |
| Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... |
OMIM:607323 |
| Bresek Syndrome |
|
Plagiocephaly, Intrauterine growth retardation, Hydrocephalus, Postaxial hand polydactyly |
ORPHA:85284 |
| Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
| 2Q31.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Abnormal metacarpal morphology, Ta... |
ORPHA:251014 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Finger syndactyly, Hydrocephalus, Short distal phalanx of finger, Apl... |
ORPHA:1647 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hip dislocation, Hydrocephalus, Brachycephaly |
OMIM:109120 |
| 3P25.3 Microdeletion Syndrome |
|
Postaxial polydactyly, Tapered finger, Brachycephaly, Congenital pseudoarthrosis of the clavicle,... |
ORPHA:435638 |
| 19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Brachycephaly, Craniosynostosis, Sandal gap, Finger syndactyly, ... |
ORPHA:254346 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Occipital meningocele, Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossif... |
OMIM:276820 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
