Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Craniosynostosis 5, Susceptibility To |
|
Craniosynostosis |
OMIM:615529 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Craniosynostosis, Philadelphia Type |
|
Craniosynostosis, Finger syndactyly |
ORPHA:1527 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Chromosome 2Q35 Duplication Syndrome |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Distal symphalangism of hands, 3-4 finger syndacty... |
OMIM:185900 |
Summitt Syndrome |
|
Syndactyly, Oxycephaly, Craniosynostosis |
OMIM:272350 |
Craniosynostosis 7 |
|
Craniosynostosis |
OMIM:617439 |
Craniosynostosis, Adelaide Type |
|
Carpal bone malsegmentation, Hallux valgus, Shortening of all distal phalanges of the fingers, Co... |
OMIM:600593 |
Aurocephalosyndactyly |
|
Craniosynostosis, 4-5 toe syndactyly |
OMIM:109050 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
|
Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Symphalangism, Distal |
|
Distal foot symphalangism, Absent dorsal skin creases over affected joints, Distal symphalangism ... |
OMIM:185700 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Craniosynostosis 3 |
|
Left unicoronal synostosis, Sagittal craniosynostosis, Hallux valgus, Brachydactyly, Single trans... |
OMIM:615314 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Hydrocephalus, Autosomal Dominant |
|
Sagittal craniosynostosis |
OMIM:123155 |
Kleeblattschaedel |
|
Cloverleaf skull, Elbow ankylosis, Craniosynostosis |
OMIM:148800 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Brachycephaly, Humeroradial synostosis, Oligodactyly, Arachnodactyly, Craniosynostosis |
OMIM:614416 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Jackson-Weiss Syndrome |
|
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... |
OMIM:123150 |
Osseous Heteroplasia, Progressive |
|
Ectopic ossification in muscle tissue, Limb undergrowth, Ankylosis |
OMIM:166350 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Craniosynostosis 1 |
|
Oxycephaly, Sagittal craniosynostosis, Scaphocephaly, Turricephaly, Biparietal narrowing, Dolicho... |
OMIM:123100 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Non-Syndromic Sagittal Craniosynostosis |
|
Dolichocephaly, Prominent occiput, Frontal bossing |
ORPHA:35093 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... |
OMIM:311895 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coronal craniosynostosis, Coxa valga, Lambdoidal craniosynostosis, Short distal phalanx of finger |
OMIM:601370 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Frontal ... |
ORPHA:380 |
Hunter-Mcalpine Craniosynostosis Syndrome |
|
Craniosynostosis |
OMIM:601379 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Craniosynostosis |
ORPHA:2866 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Craniosynostosis, Lower limb undergrowth |
OMIM:218650 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Short metacarpal, Narrow chest, Mesomelia, Brachydactyly, Postaxial hand polydactyly,... |
OMIM:611263 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Brachycephaly, Increased bone mineral density, Craniosynostosis, Thickened calvaria |
ORPHA:178377 |
Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Plagiocephaly, Finger syndactyly, Short 4th metacarpal, Cli... |
ORPHA:3210 |
Carpenter Syndrome |
|
Oxycephaly, Genu valgum, Polydactyly, Turricephaly, Finger syndactyly, Toe syndactyly, Preaxial f... |
ORPHA:65759 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Potocki-Shaffer syndrome |
|
Delayed cranial suture closure, Parietal foramina |
DECIPHER:34 |
Ectrodactyly-Polydactyly |
|
Postaxial hand polydactyly, Split foot, Split hand |
OMIM:225290 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Scaphocephaly, Preaxial hand polydactyly, Joint contracture of th... |
OMIM:175700 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormal ... |
ORPHA:294975 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Orbital craniosynostosis, Dolichocephaly, Frontal bossing |
ORPHA:1538 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly |
OMIM:176305 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Horizontal ribs, Short ribs, Narrow chest, Death in infancy, Postaxial foot polydactyly, Lateral ... |
OMIM:617405 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Craniosynostosis 2 |
|
Brachycephaly, Triphalangeal thumb, Turricephaly, Frontal bossing, Brachydactyly, Unicoronal syno... |
OMIM:604757 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Increased bone mineral density, Hypophosphatemic rickets, Craniosynostosis |
OMIM:241520 |
Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Micrognathia, Flat acetabular roof, Missing ribs, Limitation ... |
ORPHA:1801 |
Sprengel Deformity |
|
Cleft palate, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature, Abnorma... |
ORPHA:3181 |
Prognathism, Mandibular |
|
Craniosynostosis |
OMIM:176700 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... |
ORPHA:3104 |
Disorganization, Mouse, Homolog Of |
|
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate |
OMIM:223200 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate, Short humerus |
OMIM:191000 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micrognathia, Generalized osteosclerosis, Limb undergro... |
ORPHA:1423 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Costochondral pain, Costal cartilage calcification, Osteoarthritis of the small joints of the hand |
OMIM:118610 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Split foot, Split hand, 4-5 toe syndactyly, Mesoaxial hand polydactyly |
OMIM:616890 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... |
ORPHA:174 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Patellar dislocation, Short thumb, Triangular sh... |
OMIM:618167 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal carpal morphology, Coxa vara, Sho... |
ORPHA:93351 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Holzgreve Syndrome |
|
Cleft palate, Cleft upper lip, Hand polydactyly |
OMIM:236110 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Micromelia, Short palm |
ORPHA:168555 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Cleft palate, Split foot, Split hand |
OMIM:183700 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... |
DECIPHER:46 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Sagittal craniosynostosis, Clinodactyly of the 5th finger, Premature posterior fontanelle closure... |
OMIM:314320 |
Hypophosphatasia, Childhood |
|
Craniosynostosis, Dolichocephaly, Bowing of the legs, Frontal bossing |
OMIM:241510 |
16P13.11 Microduplication Syndrome |
|
Hand polydactyly, Dolichocephaly, Joint hyperflexibility, Arachnodactyly, Craniosynostosis |
ORPHA:261243 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis |
ORPHA:88643 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short foot, Coronal cranios... |
OMIM:614078 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Genu varum, Short toe, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Brachycephaly, Midface retrusion, Craniosynostosis |
OMIM:612247 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
Muenke Syndrome |
|
Brachycephaly, Short middle phalanx of toe, Plagiocephaly, Capitate-hamate fusion, Coronal cranio... |
OMIM:602849 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Abnormally ossified vertebrae, Micrognathia, Abnormal pel... |
ORPHA:1426 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Aplasia/Hypoplasia of the pha... |
ORPHA:488232 |
Jeune Syndrome |
|
Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Micromelia, Abnormal pel... |
ORPHA:474 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Frontal bossing, Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporo... |
ORPHA:2787 |
Lowry-Maclean Syndrome |
|
Craniosynostosis |
OMIM:600252 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Narrow chest, Ab... |
ORPHA:1263 |
Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Single transverse palmar crease, ... |
OMIM:617927 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Metopic suture patent to nasal root, Premature posterior fontanelle closure, Small anterior fonta... |
ORPHA:3369 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Long thorax, Mesomelia, Brachydactyly, Abnormal shoulder morphology |
ORPHA:1277 |
Thoracomelic Dysplasia |
|
Bell-shaped thorax, Genu valgum, Short ribs, Elbow dislocation, Abnormal pelvic girdle bone morph... |
ORPHA:1803 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Coarse metaphyseal trabecularization, Abnormal pelvic girdle bone morphology, White forelock, Ost... |
ORPHA:2779 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Dolichocephaly, Prominent occiput, Clinodactyly of the 5th finger, Frontal bos... |
ORPHA:1515 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
Robinow-Sorauf Syndrome |
|
Plagiocephaly, Hallux valgus, Pansynostosis, Broad hallux, Broad thumb, Duplication of the distal... |
OMIM:180750 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip, Absent radius |
OMIM:179400 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Narrow chest, Halberd-shaped pelvis, C... |
ORPHA:2635 |
Endosteal Hyperostosis, Worth Type |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Abnormal epiphysis morphology, Short thorax, Osteoarthritis, Micromelia |
ORPHA:93283 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Narrow chest, Micrognathia, Generalized osteos... |
OMIM:215045 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the legs, Bowing of th... |
OMIM:249710 |
Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... |
OMIM:156530 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly |
OMIM:615984 |
Craniosynostosis 6 |
|
Brachycephaly, Delayed cranial suture closure, Parietal foramina, Plagiocephaly, Turricephaly, Ri... |
OMIM:616602 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Genu varum, Genu valgum, Coxa vara, Abnormality of the epiphyses of the feet, Ulnar deviated club... |
ORPHA:166002 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Scaphocephaly, Joint contracture of the hand, Arthropathy, Hip dislocation, Clubbing, Craniosynos... |
OMIM:618523 |
Pfeiffer Syndrome Type 1 |
|
Brachycephaly, Aplasia/Hypoplasia of the thumb, Short foot, Finger syndactyly, Toe syndactyly, Mi... |
ORPHA:93258 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Abno... |
ORPHA:1553 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of ... |
ORPHA:1836 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Broad femoral neck, Genu valgum, Flat distal femoral epiphysis, Short femoral neck, Coxa vara, Ep... |
OMIM:609324 |
Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnormal bone oss... |
ORPHA:79106 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Postaxial Tetramelic Oligodactyly |
|
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly |
ORPHA:2730 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limb undergrowth, Limited elbow extension |
ORPHA:156728 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... |
ORPHA:2741 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Acrocapitofemoral Dysplasia |
|
Genu varum, Short thorax, Coxa vara, Flared iliac wing, Cone-shaped metacarpal epiphyses, Pectus ... |
ORPHA:63446 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand polydactyly |
ORPHA:2091 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Hypoplastic pubic bone, Thoracic hypoplasia, Short long... |
OMIM:608728 |
Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Broa... |
ORPHA:957 |
Metaphyseal Anadysplasia 2 |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... |
OMIM:613073 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger |
OMIM:190680 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Craniofrontonasal Dysplasia |
|
Brachycephaly, Camptodactyly of finger, Plagiocephaly, Finger syndactyly, Hand polydactyly, Clino... |
ORPHA:1520 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, Arthrogryposis multiplex congenita |
OMIM:201550 |
Pierre Robin Syndrome |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, High palate, Elbow flexion c... |
OMIM:619110 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... |
OMIM:601376 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Plagiocephaly, Slender long bone, Brachydactyly, Decreased calvarial ossification, Trigonocephaly... |
OMIM:618265 |
Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
Fibular Hemimelia |
|
Hip subluxation, Short tibia, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... |
ORPHA:2632 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Craniosynostosis, Osteopenia, Joint hypermobility |
OMIM:616721 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Limb undergrowth, Metaphyseal irregularity, Short... |
OMIM:151210 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal bone ossification, Abnormality of the epiphysis of the femoral head,... |
ORPHA:2114 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Limb undergrowth, Brachydactyl... |
OMIM:618961 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Hip dislocation, Joint laxity, Clinodactyly of the 5th finger, Copper beaten skull, S... |
OMIM:619451 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate |
OMIM:300484 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... |
OMIM:609616 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thora... |
OMIM:269250 |
Craniosynostosis, Herrmann-Opitz Type |
|
Brachycephaly, Finger syndactyly, Turricephaly, Split hand, Brachydactyly, Craniosynostosis |
ORPHA:2145 |
Craniosynostosis 4 |
|
Sagittal craniosynostosis, Pansynostosis, Coronal craniosynostosis, Midface retrusion, Bicoronal ... |
OMIM:600775 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... |
OMIM:258860 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad femoral neck, Genu valgum, Upper limb undergrowth, Enlargement of the costochondral junctio... |
OMIM:271650 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... |
ORPHA:1991 |
Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis |
ORPHA:718 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Death in infancy, Narrow chest, Abnormal metaphysis morphol... |
ORPHA:1354 |
Achondrogenesis Type 2 |
|
Abnormal bone ossification, Hypoplastic ilia, Short ribs, Short long bone, Narrow chest, Delayed ... |
ORPHA:93296 |
Muenke Syndrome |
|
Brachycephaly, Plagiocephaly, Short foot, Coronal craniosynostosis, Carpal synostosis, Tarsal syn... |
ORPHA:53271 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Craniosynostosis, Dolichocephaly, Clinodactyly of the 5th finger, Frontal bossing |
ORPHA:1516 |
Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ... |
ORPHA:2204 |
Axial Spondylometaphyseal Dysplasia |
|
Thoracic hypoplasia, Flattened femoral head, Aplasia/Hypoplasia of the vertebrae, Narrow greater ... |
ORPHA:168549 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Brachycephaly, Delayed closure of the anterior fontanelle, Flat occiput, Bicoronal synostosis, La... |
OMIM:618736 |
Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening |
ORPHA:1513 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... |
OMIM:609813 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Deat... |
OMIM:184260 |
2q33.1 deletion syndrome |
|
Cleft palate, High palate |
DECIPHER:51 |
Gordon Syndrome |
|
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Cleft pa... |
ORPHA:376 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Craniosynostosis, Split hand |
ORPHA:2117 |
Hypophosphatasia |
|
Recurrent fractures, Large fontanelles, Abnormal metaphysis morphology, Craniosynostosis, Bowing ... |
ORPHA:436 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Craniosynostosis, Joint hypermobility |
OMIM:618906 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Bell-shaped thorax, Short long bone, Thoracic dysplasia, Lateral clavicle hook, ... |
OMIM:615633 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Distal shortening of l... |
OMIM:300863 |
Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Death in infancy, Bifid humerus, Micrognathia, Talipes equinovarus, Flat ace... |
OMIM:256050 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Coxoauricular Syndrome |
|
Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia, Abnormality of femur morphol... |
ORPHA:1508 |
Hypochondroplasia |
|
Short toe, Genu varum, Abnormality of the elbow, Micromelia, Abnormal pelvic girdle bone morpholo... |
ORPHA:429 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Pterygium, Frontal bossing, Elbow dislocation, Hypoplastic dis... |
ORPHA:93329 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Abnormal hand bone ossification, Talipes equinovarus, Beaded ribs, H... |
OMIM:200600 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Multiple joint contractures, Aplasia/Hypoplasia of the radius, Scoliosis... |
ORPHA:916 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Hip dysplasia, Increa... |
ORPHA:628 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Thoracic hypoplasia, Recurrent fractures, Abnormal pelvi... |
OMIM:166210 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Brachycephaly, Plagiocephaly, Ulnar deviation of the wrist, Clinodactyly, Midface retrusion, Unil... |
OMIM:618577 |
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Brachycephaly, Craniosynostosis, Frontal bossing |
ORPHA:314575 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Narrow chest, Micrognathia, Abnormal clavicle morphology, Proximal placement of thumb... |
ORPHA:93267 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
Enlarged Parietal Foramina |
|
Short clavicles, Parietal foramina, Broad thumb, Craniosynostosis |
ORPHA:60015 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, Death in infancy, Toe syndactyly, ... |
OMIM:616809 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Flared metaphysis, Wide-cupped costochond... |
OMIM:187601 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cleft palate, Short foot, Abnormal hand morphology, Small hand |
OMIM:300261 |
Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Hypoplastic ilia, Short ribs, Stillbirth, Micromel... |
OMIM:600972 |
Bent Bone Dysplasia Syndrome 1 |
|
Hypoplastic pubic bone, Coronal craniosynostosis, Midface retrusion, Decreased calvarial ossifica... |
OMIM:614592 |
Grant Syndrome |
|
Narrow chest, Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa, ... |
ORPHA:2097 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, S... |
ORPHA:971 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Recurrent fractures, Cutaneous finger syndactyly, Arthritis, Osteopoikilosis... |
ORPHA:1306 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Osteopenia |
OMIM:614732 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Elbow dislocation, Mesomelia, Abnormal m... |
ORPHA:2631 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Abnormality of the dentition, Brachydactyly |
OMIM:615982 |
Coloboma Of Macula And Skeletal Anomalies |
|
Genu valgum, Coxa valga, Hallux valgus, Cleft palate, Contracture of the distal interphalangeal j... |
OMIM:216800 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachycephaly, Coxa valga, Plagiocephaly, Clinodactyly of the 5th finger, Brachydactyly, Short di... |
ORPHA:2163 |
Trigonocephaly 1 |
|
Metopic synostosis, Craniosynostosis, Trigonocephaly |
OMIM:190440 |
Multiple Metaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Micromelia, Abnormality of tibia... |
ORPHA:93430 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal pelvic girdle bone morphology, Abnormality of tibia morphology, Abnormality of femur mor... |
ORPHA:1802 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Radioulnar dislocation, Hypoplastic ilia, Abnormality of the elbow, Hip dysplasia, Elbow flexion ... |
ORPHA:93359 |
Scalp Defects-Postaxial Polydactyly Syndrome |
|
Calvarial skull defect, Postaxial polydactyly type A |
ORPHA:1003 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis |
OMIM:218670 |
Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Short lower limbs, Pectus excavat... |
OMIM:259440 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Joint hyperflexibility, Brachydactyly, Sprengel anomaly, Joint stiffness, Acromesomelia, Bowing o... |
ORPHA:40 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Grant Syndrome |
|
Down-sloping shoulders, Wormian bones, Tibial bowing |
OMIM:138930 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Ulnar deviation of finger, Micromelia, Elbow dislocation, Hypoplasia of... |
ORPHA:2249 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, Finger syndactyly, Brachyturricephaly, Humeroradial synostosis, Coro... |
OMIM:101600 |
Antley-Bixler Syndrome |
|
Brachycephaly, Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Turr... |
ORPHA:83 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Brachycephaly, Turricephaly, Toe syndactyly, Radioulnar synostosis, Large fontanelles, Short palm... |
ORPHA:171839 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Thickened ribs, Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Dea... |
OMIM:122860 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
Craniotelencephalic Dysplasia |
|
Craniosynostosis, Frontal bossing |
ORPHA:1528 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Multiple joint contractures, Abnorm... |
OMIM:300244 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Narrow chest, Micrognathia, Micromelia, Abnormal ... |
ORPHA:93298 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sagittal craniosynostosis, Plantar flexion contracture, Cutaneous syndactyly of toes, Dolichoceph... |
ORPHA:2872 |
Cole-Carpenter Syndrome 1 |
|
Orbital craniosynostosis, Recurrent fractures, Coronal craniosynostosis, Midface retrusion, Front... |
OMIM:112240 |
Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,... |
OMIM:603543 |
Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Brachycephaly, Flexion contracture, Wide anterior fontanel, Humeroradial synostosis, Coronal cran... |
OMIM:207410 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Pectus excavatum, Abn... |
OMIM:602196 |
Polydactyly, Postaxial, Type A6 |
|
Postaxial hand polydactyly, Abnormality of dental morphology, Broad phalanges of the 5th finger, ... |
OMIM:615226 |
Achondrogenesis Type 1A |
|
Short thorax, Short foot, Abnormal enchondral ossification, Recurrent fractures, Multiple rib fra... |
ORPHA:93299 |
Sillence Syndrome |
|
Large iliac wing, Camptodactyly, Abnormal distal phalanx morphology of finger, Metatarsus adductu... |
ORPHA:3168 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Bell-shaped thorax, Coxa vara, Short fe... |
OMIM:602557 |
Cole-Carpenter Syndrome 2 |
|
Recurrent fractures, Turricephaly, Coronal craniosynostosis, Midface retrusion, Frontal bossing, ... |
OMIM:616294 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Rhizomelia, Short long bone, Multiple rib fractures, Microretrognathia, Join... |
OMIM:616229 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Finger syndactyly, Abnormality of the humerus, Abnormal metaca... |
ORPHA:392 |
Carpenter Syndrome 1 |
|
Brachycephaly, Coxa valga, Lateral displacement of patellae, Toe syndactyly, Flared iliac wing, C... |
OMIM:201000 |
Odontochondrodysplasia |
|
Coxa valga, Abnormal metaphysis morphology, Death in infancy, Joint hyperflexibility, Micromelia,... |
ORPHA:166272 |
Acrocephalopolydactyly |
|
Brachydactyly, Limb undergrowth, Thoracic hypoplasia, Short long bone |
ORPHA:221054 |
Larsen Syndrome |
|
Accessory carpal bones, Finger syndactyly, Large joint dislocations, Laryngotracheomalacia, Broad... |
ORPHA:503 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Epiphyseal stippling, Limitation of joint mobility, Spina bifida occulta, Limb underg... |
ORPHA:177 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Joint hypermobility, Frontal bossing, Osteopenia, Craniosynostosis |
OMIM:147060 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Cuboidal metacarpal, Hip dislocation, Joint stiffness, Abnormal pelvic girdle b... |
ORPHA:968 |
Cdags Syndrome |
|
Brachycephaly, Delayed cranial suture closure, Sagittal craniosynostosis, Parietal foramina, Coro... |
OMIM:603116 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Flat capital femoral epiphysis, Sh... |
OMIM:147891 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... |
ORPHA:56304 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Joint contracture of the hand, Camptodactyly, Limb undergrowth, Overlapping fingers, Micromelia |
OMIM:601016 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Epiphyseal streaking, Clinodactyly of the 4th toe, Hyperos... |
OMIM:604922 |
Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Coxa valga, Cone-shaped metacarpal epiphyses, Micromelia, Abnormal diaphys... |
ORPHA:1240 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Thoracic hypoplasia, Short ribs, Radial bowing, Micrognathia, Missing ribs, U... |
OMIM:617866 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing... |
OMIM:602111 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormal cortical bone morphology, ... |
ORPHA:970 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Otosclerosis, Brachydactyly |
OMIM:617898 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Skull asymmetry, Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hypoplasia... |
OMIM:616723 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... |
OMIM:617926 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Rhizomelia, Hypoplast... |
OMIM:608940 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Cleft lip, Arachnodactyly, Cleft palate, Large hands |
OMIM:300263 |
Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Short long bone, Camptodactyly, Stillbirth, Death in adolescence, Neonatal d... |
OMIM:619751 |
Mucolipidosis Iii Alpha/Beta |
|
Short long bone, Irregular carpal bones, Carpal bone hypoplasia, Soft tissue swelling of interpha... |
OMIM:252600 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Hand oligodactyly, Solitary... |
OMIM:602418 |
Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... |
OMIM:215140 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Recurrent fractures, Slender long bone, Micrognathia, Abnormal cortical... |
ORPHA:1486 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short thorax, Short metacarpal, Angel-shaped phalanx, Flat acetabular ro... |
OMIM:617102 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Aganglionic megacolon, Polysyndactyly of hallux |
OMIM:235750 |
Macrocephaly-Developmental Delay Syndrome |
|
Scaphocephaly, Craniosynostosis, Clinodactyly of the 5th finger, Frontal bossing |
ORPHA:397612 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Anterior rib cupping, H... |
OMIM:184250 |
Facial Clefting, Oblique, 1 |
|
Cleft palate, Deep palmar crease, Cleft upper lip |
OMIM:600251 |
Weaver-Williams Syndrome |
|
Cleft palate, Narrow mouth |
ORPHA:3448 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Flat glenoid fossa, Short palm, Metaphyseal irregularity, Genu valgum, Short ribs, Broad phalanx,... |
OMIM:250420 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Non-midline cleft lip, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic gir... |
ORPHA:2725 |
Choanal Atresia |
|
Tracheomalacia, Polydactyly, Craniosynostosis |
ORPHA:137914 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Cleft palate, Postaxial foot polydactyly |
OMIM:614120 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Osteoglosphonic Dysplasia |
|
Craniosynostosis, Abnormal bone ossification, Brachydactyly |
ORPHA:2645 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Prenatal death, Micrognathia, Camptodactyly, Neonatal death, Arthrogryposis mul... |
OMIM:618393 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Abnorm... |
ORPHA:1856 |
X-Linked Intellectual Disability, Cilliers Type |
|
Coronal craniosynostosis, Clinodactyly of the 5th finger, Small hand |
ORPHA:163971 |
Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Aplastic clavicle, Wide anterior fontanel, Delayed ossification of carpa... |
OMIM:620099 |
Fgfr2-Related Bent Bone Dysplasia |
|
Metopic depression, Coronal craniosynostosis, Midface retrusion, Hypoplastic ischia, Bowing of th... |
ORPHA:313855 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Coxa valga |
OMIM:616943 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap |
OMIM:216300 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Horizontal ribs, Absent or minimally ossified vertebral bodies, Thoraci... |
ORPHA:1505 |
Cranioectodermal Dysplasia 4 |
|
Sagittal craniosynostosis, Cutaneous finger syndactyly, Hip dysplasia, Joint hypermobility, Front... |
OMIM:614378 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Craniosynostosis, Turricephaly |
ORPHA:1496 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Acrocraniofacial Dysostosis |
|
Triphalangeal thumb, Genu valgum, Coxa valga, Tapered finger, Turricephaly, Short 1st metacarpal,... |
ORPHA:949 |
Ruvalcaba Syndrome |
|
Short phalanx of finger, Short foot, Short metacarpal, Small hand, Micromelia, Limited elbow exte... |
OMIM:180870 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Short thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Narro... |
ORPHA:66637 |
Otopalatodigital Syndrome Type 1 |
|
Abnormality of the tarsal bones, Synostosis of carpal bones, Abnormal metacarpal morphology, Olig... |
ORPHA:90650 |
Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Horizontal ribs, Bell-shaped thorax, Short ribs, Irregular chondrocostal ... |
OMIM:187760 |
Acrocraniofacial Dysostosis |
|
Oxycephaly, Short first metatarsal, Short 1st metacarpal, Metatarsus adductus, Craniosynostosis |
OMIM:201050 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
Achondroplasia |
|
Thoracic hypoplasia, Wide anterior fontanel, Rhizomelia, Short long bone, Flat acetabular roof, S... |
ORPHA:15 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Short metacarpal, Deep philtrum, Microdontia, Clinodactyly, Radioulnar synostosis, Ca... |
OMIM:605282 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
X-Linked Intellectual Disability, Van Esch Type |
|
Coronal craniosynostosis, Clinodactyly of the 5th finger |
ORPHA:163976 |
Joubert Syndrome 20 |
|
Inability to walk, Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... |
OMIM:108720 |
Bone Dysplasia, Lethal Holmgren Type |
|
Bell-shaped thorax, Abnormality of the elbow, Rhizomelia, Short ribs, Narrow chest, Abnormal thum... |
ORPHA:1842 |
Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
Achondrogenesis, Type Ii |
|
Hypoplastic iliac wing, Horizontal ribs, Short tubular bones of the hand, Short long bone, Short ... |
OMIM:200610 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Narrow greater sciatic notch, Shor... |
OMIM:228520 |
Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus, Hypoplastic... |
OMIM:223800 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Cleft soft palate, Long philtrum, Metatarsa... |
ORPHA:2756 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Short thorax, Coxa valga, Narrow chest, Microgna... |
ORPHA:2484 |
Frontal Encephalocele |
|
Spina bifida, Hydrocephalus, Encephalocele |
ORPHA:1931 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coxa vara, Elbow flexion contracture, Flared iliac wing, Flat acetabular roof, Halberd-shaped pel... |
OMIM:184252 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna,... |
ORPHA:3344 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, A... |
OMIM:171480 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Thoracic hypoplasia, Hypoplastic ilia, Short ribs, Hypoplasia of the radius, Mic... |
OMIM:617895 |
Meckel Syndrome, Type 3 |
|
Postaxial hand polydactyly, Polydactyly, Cleft palate, Postaxial foot polydactyly |
OMIM:607361 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... |
ORPHA:2634 |
Osteogenesis Imperfecta, Type V |
|
Dentinogenesis imperfecta, Biconcave vertebral bodies, Anterior radial head dislocation, Hyperext... |
OMIM:610967 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Delayed closure of the anterior fontanelle, Clinodactyly of the 5th finger, Upper li... |
ORPHA:231140 |
Apert Syndrome |
|
Brachycephaly, Delayed cranial suture closure, Humeroradial synostosis, Midface retrusion, Large ... |
OMIM:101200 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Craniosynostosis, Hip dysplasia |
ORPHA:531151 |
Joubert Syndrome 17 |
|
Ataxia, 3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly |
OMIM:614615 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Micrognathia, Lower limb undergrowth, Abnormal rib ... |
ORPHA:3035 |
Spondylometaphyseal Dysplasia, Axial |
|
Thoracic hypoplasia, Short femoral neck, Coxa vara, Anterior rib cupping, Rhizomelia, Proximal fe... |
OMIM:602271 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, Unicoronal synostosi... |
OMIM:601707 |
Hemifacial Microsomia With Radial Defects |
|
Triphalangeal thumb, Non-midline cleft lip, Complete duplication of thumb phalanx, Cleft palate, ... |
OMIM:141400 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Brachycephaly, Genu valgum, Plagiocephaly, Tapered finger, Midface retrusion, Dolichocephaly, Joi... |
OMIM:619721 |
X-Linked Hypophosphatemia |
|
Abnormal lower-limb metaphysis morphology, Flared iliac wing, Sacroiliac joint synovitis, Reduced... |
ORPHA:89936 |
Gomez-Lopez-Hernandez Syndrome |
|
Brachycephaly, Skull asymmetry, Turricephaly, Wide anterior fontanel, Midface retrusion, Craniosy... |
OMIM:601853 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele |
OMIM:182940 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Micromelia, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Increased bone mineral density, Pathologic fr... |
OMIM:259700 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Thoracic hypoplasia, Broad ribs, Death in childhood, Generalized j... |
OMIM:613848 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Knee flexion contracture, Limb joint contracture, Ankle flexion contracture, Bilateral talipes eq... |
ORPHA:284417 |
Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Metaphyseal cupping, Short thorax, Abnormal carpal morphology, Narrow chest, Hypoplas... |
ORPHA:85166 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Enlargement of the costochondral junction, Delayed ep... |
OMIM:600081 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Abnormal metacarpal morphology, Abnormal morphology of ulna, Ap... |
ORPHA:1837 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Elbow flexion contracture, Disloc... |
OMIM:305620 |
Pyknoachondrogenesis |
|
Horizontal ribs, Enlarged thorax, Short thorax, Short long bone, Short ribs, Poorly ossified vert... |
ORPHA:3003 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Small hand, Calvarial osteosclerosis, Stenosis of the medullary cavity of the lon... |
ORPHA:93324 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Coxa valga, Supernumerary ribs, Bilateral talipes equinovarus, Finger clinodactyly, Osteoporosis |
ORPHA:2958 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Thoracic hypoplasia, Generalized bone d... |
ORPHA:93352 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Li... |
OMIM:601356 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radi... |
OMIM:617604 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Vertebral fusion, Hip contracture, Cutaneous finger syndactyly, Multipl... |
OMIM:178110 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... |
OMIM:173800 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Hip ... |
OMIM:609945 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Palmoplantar keratoderma, Obesity, Abnormal pelvis bone morp... |
ORPHA:2206 |
Brachydactyly, Type E1 |
|
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Straight clavicles, Type E br... |
OMIM:113300 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Micromelia, Short femur, Femoral bowing, Bra... |
ORPHA:440354 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morph... |
OMIM:144750 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Foot polydactyly, Postaxial hand polydactyly, Aganglionic megacolon |
ORPHA:2155 |
Chromosome 5P13 Duplication Syndrome |
|
Brachycephaly, Turricephaly, Frontal bossing, Single transverse palmar crease, Long fingers, Larg... |
OMIM:613174 |
Achondrogenesis |
|
Short thorax, Abnormal enchondral ossification, Micrognathia, Abnormality of bone mineral density... |
ORPHA:932 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand, Ataxia |
OMIM:245800 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Hypomandibular Faciocranial Dysostosis |
|
Coronal craniosynostosis |
OMIM:241310 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Flexion contracture, Craniosynostosis |
OMIM:619076 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Hyperlordosis, Mandibular prognathia, Finger s... |
ORPHA:710 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Short clavicles, Osteopenia, Down-sloping shoulders |
OMIM:212112 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Short finger, Irregular epiphyses, Joint laxity, Barrel-shaped chest, Broad thumb, Me... |
OMIM:612813 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Advanced ossification of carpal bones, Joint contracture of the hand, Short long bone, Short ribs... |
OMIM:224400 |
Cranioectodermal Dysplasia 3 |
|
Sagittal craniosynostosis, 2-3 toe syndactyly, Scaphocephaly, Dolichocephaly, Joint laxity, Front... |
OMIM:614099 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Thin bony cortex, Coxa valga, Short tubular bones of the hand, Wide anterior ... |
ORPHA:85184 |
Nievergelt Syndrome |
|
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Tarsal synostosis, Talipes ... |
OMIM:163400 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Abnormality of the wrist, Carpal synostosis, Cleft palate, Tarsal s... |
ORPHA:2010 |
Becker Nevus Syndrome |
|
Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnormality of ... |
ORPHA:64755 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal thorax morphology, Hip dislocation, Dislocated radial head, Mesomelia, Fibu... |
OMIM:605274 |
Joubert Syndrome 10 |
|
Postaxial polydactyly, Frontal bossing |
OMIM:300804 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Vertebral segmentation defect, Micrognathia, Ulnar deviation of fin... |
ORPHA:1147 |
Joubert Syndrome 27 |
|
Gait ataxia, Polydactyly, Ataxia |
OMIM:617120 |
Juberg-Hayward Syndrome |
|
Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of the radius, A... |
ORPHA:2319 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Short ribs, Narr... |
ORPHA:2021 |
Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis, Mesomelia |
OMIM:156232 |
Mesomelia-Synostoses Syndrome |
|
Genu valgum, Abnormality of the humerus, Synostosis of carpal bones, Abnormal metacarpal morpholo... |
ORPHA:2496 |
Frontoocular Syndrome |
|
Coronal craniosynostosis, Trigonocephaly |
OMIM:605321 |
Crouzon Syndrome |
|
Brachycephaly, Turricephaly, Midface retrusion, Frontal bossing, Multiple suture craniosynostosis |
ORPHA:207 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Short ribs, Flat acetabular roof, Thoracic dysplasia, Micromelia, S... |
OMIM:614091 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... |
OMIM:249700 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Thoracic hypoplasia, Short ribs, Multiple rib fractures, M... |
OMIM:616897 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Flexion contracture, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Short ribs, Micro... |
ORPHA:1865 |
White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Spina bifida occulta, Joint hyperflexibility, ... |
ORPHA:2475 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormal thorax morphology, Clubbing of toes, Micromelia, Brachydactyly, Abnorm... |
ORPHA:1318 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Parenti-Mignot Neurodevelopmental Syndrome |
|
Craniosynostosis, Frontal bossing |
OMIM:619873 |
Say Syndrome |
|
Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Tapered finger, Cleft palate |
OMIM:181180 |
Mohr Syndrome |
|
Lobulated tongue, Metaphyseal irregularity, Preaxial hand polydactyly, Bifid tongue, High palate,... |
OMIM:252100 |
Kenny-Caffey Syndrome, Type 1 |
|
Thin clavicles, Short foot, Small hand, Calvarial osteosclerosis, Slender long bone, Long clavicl... |
OMIM:244460 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Patellar aplasia, Finger syndactyly, ... |
ORPHA:3329 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Hip dysplasia, Preaxial foot polydactyly, Micrognathi... |
ORPHA:1988 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Bowing of ... |
OMIM:611561 |
Crane-Heise Syndrome |
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Aplastic clavicle, Finger syndactyly, Toe syndactyly, Micrognathia, Joint stiffness, Decreased sk... |
ORPHA:1512 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Short long bone, Short ribs, Thoracic dysplasia, Femoral bowing, Syndactyly, Preaxial polydactyly... |
OMIM:615503 |
8Q22.1 Microdeletion Syndrome |
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Camptodactyly of finger, Finger syndactyly, Limitation of joint mobility, Sandal gap, Craniosynos... |
ORPHA:178303 |
Al-Gazali-Bakalinova Syndrome |
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Polydactyly, Genu valgum, Tapered finger, Clinodactyly, Frontal bossing, Epiphyseal dysplasia, Fl... |
OMIM:607131 |
Hypophosphatasia, Infantile |
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Increased susceptibility to fractures, Metaphyseal cupping, Short lower limbs, Unossified vertebr... |
OMIM:241500 |
Cleidocranial Dysplasia |
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Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia, Spina bifida ... |
ORPHA:1452 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Recurrent fractures, Joint hyperflexibility, Decreased calvarial ossification, Micromelia, Abnorm... |
ORPHA:2772 |
Frontometaphyseal Dysplasia |
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