Postaxial Tetramelic Oligodactyly |
|
Ectrodactyly, Abnormal metacarpal morphology, Abnormal finger morphology, Oligodactyly |
ORPHA:2730 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Short metacarpal, Mesomelia, Brachydactyly, Postaxial hand polydactyly, Short foot, B... |
OMIM:611263 |
Brachydactyly Type C |
|
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... |
ORPHA:93384 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Micrognathia |
OMIM:172880 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
Tetramelic Monodactyly |
|
Split hand, Split foot, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Holoprosencephaly 7 |
|
Wide nasal bridge, Synophrys, Lobar holoprosencephaly, Median cleft lip, Iris coloboma, Holoprose... |
OMIM:610828 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Metaphyseal Anadysplasia 2 |
|
Genu varum, Metaphyseal irregularity, Short femoral neck, Bowing of the legs, Micromelia, Metaphy... |
OMIM:613073 |
Brachydactyly, Type A1, D |
|
Short distal phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Abnormal foot mor... |
OMIM:616849 |
Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Finger syndactyly, Oligodactyly |
ORPHA:2440 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Brachydactyly Type A2 |
|
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... |
ORPHA:93396 |
Brachydactyly, Type A1, B |
|
Broad distal hallux, Short 5th metacarpal, Clinodactyly, Cone-shaped epiphyses of the phalanges o... |
OMIM:607004 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Brachydactyly |
OMIM:618879 |
Brachydactyly-Syndactyly, Zhao Type |
|
Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Hallux valgus, Short mid... |
ORPHA:93409 |
Marinesco-Sjogren Syndrome |
|
Gait ataxia, Coxa valga, Cerebellar cortical atrophy, Short metacarpal, Limb ataxia, Ataxia, Cere... |
OMIM:248800 |
Otodental Syndrome |
|
Delayed eruption of teeth, Pulp calcification, Taurodontia, Lens coloboma, Iris coloboma, Gingiva... |
ORPHA:2791 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad femoral neck, Genu valgum, Upper limb undergrowth, Hypoplastic sacrum, Coxa vara, Capitate-... |
OMIM:271650 |
Zechi-Ceide Syndrome |
|
Long foot, Short distal phalanx of finger, Sandal gap, Short metatarsal, Cerebellar vermis hypopl... |
OMIM:612916 |
Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:615072 |
Brachydactyly Type E |
|
Short metacarpal, Upper limb asymmetry, Aplasia/Hypoplasia of the distal phalanx of the hallux, S... |
ORPHA:93387 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Short metacarpal, Short hallux, Short distal phalanx of finger, Hallux varus, S... |
OMIM:112450 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Ataxia, Short metacarpal, Brachydactyly |
OMIM:113400 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the legs, Bowing of th... |
OMIM:249710 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femoral epiphysis, Brachyda... |
OMIM:226900 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Micrognathia, Elbow flexion contracture, Metatarsal synostosis, Abnormal fo... |
ORPHA:93307 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Sugarman Brachydactyly |
|
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... |
OMIM:272150 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Broad foot, Abnormal carpal morphology, Co... |
ORPHA:93351 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Epicanth... |
ORPHA:90646 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Coloboma, ... |
OMIM:136760 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Partial-complete absence of 5th phalanges... |
OMIM:176240 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... |
ORPHA:85169 |
Brachydactyly, Type A4 |
|
Talipes calcaneovalgus, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd f... |
OMIM:112800 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral sin... |
ORPHA:1453 |
Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... |
OMIM:112700 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Micrognathia, Broad thumb, Brachyd... |
ORPHA:1278 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
Adams-Oliver Syndrome 3 |
|
Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, Short distal phalanx of finger, ... |
OMIM:614814 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Stapes ankylosis, Wide nasal bridge, Synophrys, Lobar holoprosencephaly, Smooth philtrum, Cleft p... |
OMIM:614701 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Exostoses, Multiple, Type Ii |
|
Genu valgum, Coxa vara, Short metacarpal, Pelvic bone exostoses, Madelung-like forearm deformitie... |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Genu valgum, Coxa vara, Short metacarpal, Pelvic bone exostoses, Madelung-like forearm deformitie... |
OMIM:133700 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Spina bifida occulta, Iris coloboma, Phthisis bulbi, Microphakia, Rod-co... |
OMIM:612109 |
Neurofaciodigitorenal Syndrome |
|
Abnormality of the philtrum, Downslanted palpebral fissures, Mandibular prognathia, Abnormality o... |
ORPHA:2673 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Short femoral neck, Avascular necrosis ... |
OMIM:132400 |
Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... |
OMIM:606835 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Broad femoral neck, Metaphyseal irregularity, Genu valgum, Coxa vara, Short metacarpal, Short fem... |
OMIM:607078 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Coloboma, Short philtrum, Abnormal oral ... |
ORPHA:1617 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Abnormal eyebrow m... |
ORPHA:1106 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Rhizomelia, Brachydactyly, Short metatarsal, Deformed humeral heads,... |
OMIM:601438 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Short stepped shuffling gait, Enlarged ... |
OMIM:151200 |
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 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Mesomelic leg shortening, Micrognathia, Met... |
ORPHA:2756 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Retinal pigment epithelial mottl... |
OMIM:617102 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Short femoral neck, Abnor... |
ORPHA:2632 |
Holoprosencephaly 9 |
|
Prominent antihelix, Optic nerve hypoplasia, Holoprosencephaly, Cleft palate, Bilateral cleft lip... |
OMIM:610829 |
Holoprosencephaly 5 |
|
Macrotia, High palate, Syntelencephaly, Deep philtrum, Synophrys, Hydrocephalus, Semilobar holopr... |
OMIM:609637 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Microtia, Underdeveloped tragus, Mi... |
ORPHA:79113 |
Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... |
ORPHA:52056 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... |
ORPHA:1856 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Rhizomeli... |
OMIM:228900 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Ruvalcaba Syndrome |
|
Short phalanx of finger, Short foot, Short metacarpal, Small hand, Micromelia, Limited elbow exte... |
OMIM:180870 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Spondylo-Ocular Syndrome |
|
Abnormal antihelix morphology, Abnormal eyebrow morphology, Long philtrum, Iris hypopigmentation,... |
ORPHA:85194 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd fin... |
OMIM:156510 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
Metacarpal 4-5 Fusion |
|
4-5 metacarpal synostosis, 2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of th... |
OMIM:309630 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... |
OMIM:617719 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Triphalangeal thumb, Wide anterior fontanel, Absent forearm, Micrognathia, Clinodact... |
OMIM:201170 |
Spinocerebellar Ataxia 41 |
|
Gait ataxia, Cerebellar vermis atrophy, Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
Distal Monosomy 7Q36 |
|
Non-midline cleft lip, Macrotia, Optic atrophy, Wide mouth, Micrognathia, Holoprosencephaly, Upsl... |
ORPHA:1636 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short foot, Small hand, Cerebellar hypoplasia, Atrophy of the dentate nucleus, Truncal ataxia, Dy... |
OMIM:610185 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Coxa valga, Hypoplastic ilia, Vertebral wedging, Internal tibial torsion, Kyphoscoliosis, Platysp... |
OMIM:616583 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... |
ORPHA:71289 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly |
ORPHA:1471 |
Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Absent nares, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Anal atre... |
ORPHA:2166 |
Crossed Polysyndactyly |
|
Hearing abnormality, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormality of the outer... |
ORPHA:2935 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Ab... |
OMIM:128980 |
Zechi-Ceide Syndrome |
|
Long foot, Sandal gap, Short distal phalanx of finger, Short metatarsal, Cerebellar vermis hypopl... |
ORPHA:217017 |
Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis,... |
ORPHA:93320 |
Cohen Syndrome |
|
Genu valgum, Tapered finger, Short metacarpal, Cerebellar hypoplasia, Micrognathia, Bone spicule ... |
OMIM:216550 |
Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
Abruzzo-Erickson Syndrome |
|
Macrotia, Conductive hearing impairment, Sensorineural hearing impairment, Coloboma, Epicanthus, ... |
ORPHA:921 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Avascular necrosis of the capital femoral epiphysis, Short foot, Short m... |
OMIM:190351 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Knee flexion contracture, Unilateral wrist flexion contracture, Cerebellar dysplasia, Femoral ret... |
OMIM:616531 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial hand polydactyly, 2-3 toe cutaneous syndactyly, Short fifth metatarsal, Postaxial foot ... |
OMIM:617642 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Coxa vara, Lower-limb metaphyseal irregularity, Short long bone, Enlarged metaphyses,... |
OMIM:618728 |
Meckel Syndrome, Type 9 |
|
Occipital encephalocele, Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Limb undergrow... |
ORPHA:93323 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Genu varum, Intervertebral space narrowing, Genu valgum, Broad femoral neck, Irregular vertebral ... |
OMIM:609223 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
Brachydactyly, Type A2, With Microcephaly |
|
Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Clinodactyly of the 2nd toe, Thumbs h... |
OMIM:211369 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus |
OMIM:615938 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Impaired vibration sensation at ankles, Ankle clonus, Abnormal cerebellum morphology, Spastic gai... |
OMIM:275900 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Fair hair, Blue... |
OMIM:614613 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Preaxial f... |
ORPHA:1540 |
Pyle Disease |
|
Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen... |
OMIM:265900 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Heyn-Sproul-Jackson Syndrome |
|
Short phalanx of finger, 11 pairs of ribs, Short metacarpal, Broad phalanx, Broad metacarpals |
OMIM:618724 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Tapered finger, Metaphyseal irregularity, Short... |
OMIM:601668 |
Monosomy 18P |
|
Abnormal antihelix morphology, Macrotia, Wide nasal bridge, Epicanthus, Hypodontia, Micrognathia,... |
ORPHA:1598 |
Rubinstein-Taybi Syndrome 2 |
|
Retrognathia, Talon cusp, Dental malocclusion, Convex nasal ridge, Prominent nose, Narrow palate,... |
OMIM:613684 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Hypopigmentation of the skin, Prominent interdigital folds, Short first metatarsal, Short 1st met... |
OMIM:601957 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Short femoral neck, Kyphosis, Short long bone, Squared... |
OMIM:271530 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Epicanthus, Micrognathia, Sparse eyelashes, Persistent pupillary membr... |
OMIM:257850 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Sensorineural hearing impairment, Optic atrophy, Epicanthus, Iris cyst, Ptosis, Hypoplasia of the... |
OMIM:620086 |
Smith-Mccort Dysplasia 2 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Metaphyseal irregularity, Short metacar... |
OMIM:615222 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Pes cavus, Dysmetria, Steppage gait, Hammertoe, Cerebellar atrophy, Distal s... |
OMIM:618387 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Aplasia/Hypoplasia of the earlobes,... |
ORPHA:3232 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short 1st metacarpal, Broad middle phalanx of finger, Delayed ossification of carpal bones, Clino... |
OMIM:182255 |
Pseudopseudohypoparathyroidism |
|
Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Short distal phalanx of the thumb, ... |
ORPHA:79445 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Hyporeflexia of lower limbs, Ataxia, Cerebellar atrophy, Unsteady gait, Hyporeflexia... |
OMIM:615705 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly |
OMIM:176305 |
Cenani-Lenz Syndrome |
|
Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of the radius, Synostosis of car... |
ORPHA:3258 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Mesomelia, Micrognathia, Abnormal shoulder morphology, Brachydactyly |
ORPHA:1277 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Kniest Dysplasia |
|
Vitreoretinopathy, Enlarged joints, Delayed patellar ossification, Abnormal cartilage collagen, A... |
ORPHA:485 |
Multiple Synostoses Syndrome |
|
Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... |
ORPHA:3237 |
Frontometaphyseal Dysplasia |
|
Short diaphyses, Wrist flexion contracture, Camptodactyly of finger, Short phalanx of finger, Chi... |
ORPHA:1826 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly |
OMIM:271620 |
Crouzon Syndrome |
|
Conjunctivitis, Convex nasal ridge, Conductive hearing impairment, Narrow internal auditory canal... |
ORPHA:207 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... |
ORPHA:1307 |
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 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Wide anterior fontanel, Joint cont... |
OMIM:113000 |
Cofs Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Wide nasal bridge, Optic atrophy, Abno... |
ORPHA:1466 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Iris coloboma, Bilateral microphthalmos, Holoprosencephaly, Microphthalmia, Chorior... |
OMIM:611638 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Genu recurvatum, Delaye... |
OMIM:177170 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short metacarpal, Short lon... |
OMIM:614078 |
Pseudodiastrophic Dysplasia |
|
Elbow dislocation, Scoliosis, Phalangeal dislocation, Platyspondyly, Malar flattening, Talipes eq... |
ORPHA:85174 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar vermis atrophy, Short 4th metacarpal, Inability to walk, Short digit, Clinodactyly of ... |
OMIM:618143 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, High palate, Microtia, Abnormali... |
ORPHA:3216 |
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 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... |
ORPHA:968 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Camptodactyly of finger, Impaired vibration sensation in the lower limbs, Weakness of long finger... |
ORPHA:324442 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Epicanthus, Synophrys, Abnormal retinal vascular mo... |
ORPHA:1390 |
Neonatal Adrenoleukodystrophy |
|
Sensorineural hearing impairment, Wide anterior fontanel, Optic atrophy, Wide nasal bridge, Abnor... |
ORPHA:44 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Hearing abnormality, Abnormality of the knee, Depressed nasal ridge, Wide nasal bridge, Epicanthu... |
ORPHA:2412 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, S... |
OMIM:118651 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Synophrys, Velopharyngeal ... |
OMIM:182290 |
Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
Trisomy 18 |
|
Camptodactyly of finger, Non-midline cleft lip, Epicanthus, Iris coloboma, Holoprosencephaly, Cyc... |
ORPHA:3380 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae |
ORPHA:50809 |
Eiken Syndrome |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Broad foot, Abnormal fingertip morp... |
ORPHA:79106 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Brachydactyly, Abnormality of fe... |
ORPHA:969 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Downslanted palpebral fissures, Encephalocele, Lobar holoprosencephaly, Pt... |
ORPHA:2117 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae |
OMIM:609655 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormally large globe, Optic atrophy, Microdontia, Micrognathia, Abnormal optic disc morphology,... |
ORPHA:363417 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, Brachydacty... |
OMIM:605282 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Abnormality of the upper limb, Clinodactyly of the 5th finger, Oligodactyly, Abnormality of the h... |
ORPHA:521308 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Ectopia lentis, Iris coloboma, Cleft palate, Hearing impairment, Genu ... |
ORPHA:2712 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Split foot, Hand monodactyly |
OMIM:183800 |
Atelosteogenesis, Type Iii |
|
Horizontal sacrum, Micrognathia, Radial bowing, Flat acetabular roof, Tombstone-shaped proximal p... |
OMIM:108721 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus,... |
OMIM:223800 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Lowry-Maclean Syndrome |
|
Convex nasal ridge, Micrognathia, Cleft palate, Widely patent coronal suture, Choanal atresia, Ta... |
ORPHA:2409 |
Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Shortening of all distal phalanges of the fingers, ... |
OMIM:619135 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive ... |
OMIM:186500 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Met... |
ORPHA:174 |
Triploidy |
|
Meningocele, Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Wide mouth, Micrognathi... |
ORPHA:3376 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Multiple Metaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Micromelia, Abnormality of tibia... |
ORPHA:93430 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Retinal pigment epithelial atrophy, Underdeveloped nasal alae, Dental malocclusion, Rod-cone dyst... |
OMIM:616108 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... |
OMIM:156500 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Sensorineural hearing impairment, Posterior embryotoxon, Optic atrophy, Ptosis, Cataract, Iris co... |
ORPHA:1473 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Short metacarpal, Abnormal hip joint morphology, Irregular epiphyses, Epiphyseal dysplasia, Limit... |
OMIM:600969 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
Jackson-Weiss Syndrome |
|
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... |
OMIM:123150 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology |
ORPHA:1078 |
Brachydactyly, Type E1 |
|
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Type E brachydactyly |
OMIM:113300 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Ring Chromosome 14 Syndrome |
|
Downslanted palpebral fissures, High palate, Depressed nasal ridge, Epicanthus, Blepharophimosis,... |
OMIM:616606 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Ataxia |
ORPHA:238446 |
Acrodysostosis |
|
Short toe, Melanocytic nevus, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, A... |
ORPHA:950 |
Distal Monosomy 10Q |
|
Tapered finger, Cerebellar hypoplasia, Hip dysplasia, Micrognathia, Clinodactyly, Hip dislocation... |
ORPHA:96148 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Retinopathy, Spinal dysraphism, Optic atrophy, Epicanthus, Synophr... |
ORPHA:2162 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip subluxation, Protrusio acetabuli, Broad femoral neck, Broad radial metaphysis, Hip contractur... |
ORPHA:99642 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Short toe, Broad foot, Upper limb undergrowth, Short metacarpal, Microgn... |
ORPHA:439822 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Short toe, Genu valgum, Metaphyseal irregularity, Genu varum, Rhizomelia... |
OMIM:619636 |
Autosomal Dominant Brachyolmia |
|
Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Platyspondyly |
ORPHA:93304 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... |
OMIM:609616 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Underdeveloped nasal alae, Stapes ankylosis, Conductive hearing impairment, Congenital stapes ank... |
OMIM:184460 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Coloboma, Wide nasal bridge, Absent... |
OMIM:167730 |
Temtamy Syndrome |
|
Genu varum, Convex nasal ridge, Thick lower lip vermilion, Micrognathia, Iris coloboma, Abnormal ... |
ORPHA:1777 |
Jacobsen Syndrome |
|
Optic atrophy, Epicanthus, Micrognathia, Iris coloboma, Holoprosencephaly, Abnormal eyelash morph... |
OMIM:147791 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Optic atrophy, Epicanthus, Chorioretinal dysplasia, Upslanted palpebral fissure, Protruding ear, ... |
OMIM:152950 |
Pseudopseudohypoparathyroidism |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:612463 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange... |
OMIM:618167 |
Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
Stickler Syndrome Type 1 |
|
Sensorineural hearing impairment, Long philtrum, Short nose, Hypoplasia of the maxilla, Cataract,... |
ORPHA:90653 |
Weaver Syndrome |
|
Coxa valga, Melanocytic nevus, Camptodactyly, Metatarsus adductus, Overlapping toe, Pes cavus, Ra... |
OMIM:277590 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of thumb, Short phalanx of finger, Absent thumb, Irregular hyperpigmentation, Sho... |
OMIM:194350 |
Acromegaloid Facial Appearance Syndrome |
|
Micrognathia, Large hands, Tapered finger, Short 5th metacarpal |
OMIM:102150 |
Intellectual Disability, Birk-Barel Type |
|
Incisor macrodontia, Congenital finger flexion contractures, Micrognathia, Limited elbow flexion/... |
ORPHA:166108 |
Tetrasomy X |
|
Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:9 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Hydrocephalus, Oligodactyly |
ORPHA:3016 |
Acrocraniofacial Dysostosis |
|
Conductive hearing impairment, Tapered finger, Coxa valga, Abnormality of the middle ear ossicles... |
ORPHA:949 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Syndacty... |
OMIM:600384 |
Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Genu valgum, Short metacarpal, Brachydactyly, Sh... |
OMIM:600705 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Coxa vara, Micromelia |
ORPHA:168555 |
Chromosome 2Q37 Deletion Syndrome |
|
Short phalanx of finger, Short toe, Short metacarpal, Pain insensitivity, Short metatarsal |
OMIM:600430 |
Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
Aicardi Syndrome |
|
Cleft upper lip, Abnormality of skin pigmentation, Sparse lateral eyebrow, Optic atrophy, Block v... |
ORPHA:50 |
Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... |
OMIM:602875 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Sparse eyebrow, Lipomas of eyelids, Coloboma, Lacrimal punctal atresia, Abnormality of... |
ORPHA:2399 |
Osteolysis Syndrome, Recessive |
|
Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteolysis, Distal radial epiphy... |
OMIM:259610 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, ... |
OMIM:608940 |
Malan Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Mandibular prognathia, Advanced eruption of teeth, ... |
OMIM:614753 |
Craniosynostosis And Dental Anomalies |
|
Stapes ankylosis, Conductive hearing impairment, Convex nasal ridge, Delayed eruption of teeth, P... |
OMIM:614188 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Syndactyly, Abnormality of the vertebral column, Abnormal hip... |
ORPHA:294975 |
Nail-Patella Syndrome |
|
Lester's sign, Cleft upper lip, Patellar hypoplasia, Sensorineural hearing impairment, Patellar d... |
OMIM:161200 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Marinesco-Sjögren Syndrome |
|
Metatarsus valgus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal fing... |
ORPHA:559 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of ... |
ORPHA:1836 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Downslanted palpebral fissures, Cleft upper lip, Sparse eyebrow, High palate, Deep philtrum, Micr... |
OMIM:612530 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Small hand, Hypoplasia of the odontoid process, Cone-shaped epiphyses of the phalanges of the han... |
ORPHA:85172 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Atelosteogenesis, Type Ii |
|
Increased intervertebral space, Horizontal sacrum, Micrognathia, Bifid humerus, Flat acetabular r... |
OMIM:256050 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
Bartsocas-Papas Syndrome 2 |
|
Wide anterior fontanel, Ankyloblepharon, Micrognathia, Axillary pterygium, Antecubital pterygium,... |
OMIM:619339 |
Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Abnormal dentate nucleus morphology, Fusion of the cerebell... |
ORPHA:59315 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Genu varum, Genu valgum, Flat capital femoral epiphysis, Platyspondyly |
OMIM:608361 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Cleft upper lip, Megalocornea, Long phil... |
ORPHA:915 |
Marshall Syndrome |
|
Thick upper lip vermilion, Epicanthus, Micrognathia, Bifid uvula, Vitreoretinopathy, Cleft palate... |
OMIM:154780 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic platyspondyly, He... |
ORPHA:166011 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal |
ORPHA:2489 |
Pierpont Syndrome |
|
Wide nose, Unilateral narrow palpebral fissure, Prominent median palatal raphe, Widely spaced tee... |
OMIM:602342 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Absent distal phalanges, Ty... |
OMIM:120400 |
Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbow dislocation, Limb u... |
OMIM:108720 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Deafness, Conductive, With Malformed External Ear |
|
Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle... |
OMIM:221300 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, Bilateral sensorineural hearing impairment, 1-2 toe syndactyly, 4-5 t... |
ORPHA:488232 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Heberden's node, Platyspondyly, Beaking of vertebral bodies, Schmo... |
OMIM:604864 |
Warburg Micro Syndrome 1 |
|
Macrotia, Wide nasal bridge, Optic atrophy, Micrognathia, Developmental cataract, Microcornea, Pt... |
OMIM:600118 |
Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Abnormal nasolacrimal system morphology, Epicanthus, Abnorma... |
ORPHA:141099 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Radioulnar dislocation, Hypoplastic ilia, Abnormality of the elbow, Micrognathia, Elbow flexion c... |
ORPHA:93359 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Scoliosis, Platyspondyly |
ORPHA:3180 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Wide anterior fontanel, Abnormality of the elbow, Abnormality of cranial sutures, Lo... |
ORPHA:163649 |
Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, Conductive hearing impairment, Coloboma, Wide nasal bridge, Upper lip pit,... |
ORPHA:1297 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Broad femoral neck, Tapered finger, Short femor... |
OMIM:612350 |
Microphthalmia, Syndromic 13 |
|
Widely-spaced incisors, Microcornea, Ptosis, Iris coloboma, Anteverted ears, Microphthalmia, Chor... |
OMIM:300915 |
Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, Knee flexion contracture, Ulnar deviation of th... |
OMIM:114300 |
Mesomelic Dysplasia, Kantaputra Type |
|
Radial bowing, Tarsal synostosis, Carpal synostosis, Mesomelia |
OMIM:156232 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Absent nares, Aplasia/Hypoplasia involving the nose, Narrow internal auditory canal, Mandibular a... |
ORPHA:990 |
Otodental Dysplasia |
|
Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Coloboma, Delayed eruption of... |
OMIM:166750 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, High palate, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Lambotte Syndrome |
|
Retrognathia, Convex nasal ridge, Macrotia, Ocular anterior segment dysgenesis, Semilobar holopro... |
OMIM:245552 |
Marshall-Smith Syndrome |
|
Irregular dentition, Bilateral conductive hearing impairment, Melanocytic nevus, Microdontia, Syn... |
OMIM:602535 |
Cohen Syndrome |
|
Optic atrophy, Micrognathia, Iris coloboma, Tooth agenesis, Abnormal eyelash morphology, Thick ey... |
ORPHA:193 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Joint contracture of the hand, Camptodactyly, Limb undergrowth, Overlapping fingers, Micromelia |
OMIM:601016 |
Cortical Dysplasia, Complex, With Other Brain Malformations 13 |
|
Broad foot, Tip-toe gait, Short foot, Gait disturbance, Cerebellar vermis hypoplasia, Short palm,... |
OMIM:614563 |
Pierpont Syndrome |
|
Telecanthus, Macrotia, Widely spaced teeth, Narrow palpebral fissure, Microcornea, Wide nasal rid... |
ORPHA:487825 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly, Micromelia, Cerebellar vermis hypoplasia |
OMIM:600092 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Genu varum, Delayed ossification of carpal bones, Bowing of the legs, Irregular acetabular roof, ... |
OMIM:617974 |
49,Xxxxy Syndrome |
|
Wide nose, Upslanted palpebral fissure, Mandibular prognathia, Depressed nasal ridge, Delayed eru... |
ORPHA:96264 |
Agnathia-Otocephaly Complex |
|
Wide nose, Downslanted palpebral fissures, Conductive hearing impairment, Mandibular aplasia, Mic... |
OMIM:202650 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Talipes, Dandy-Walker malformation, Genu recurvatum |
ORPHA:2611 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Knee flexion contracture, Upslanted palpebral fissure, Macrotia, Sparse lateral eyebro... |
OMIM:619694 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Abnormality of the ear, Split foot, Split hand, Malar flattening |
OMIM:183700 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... |
OMIM:127300 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Coloboma, Ocular anterior segment dysgenesis, Hydrocephalus, Developmental cataract, Retinal dysp... |
ORPHA:324416 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Horizontal eyebrow, Long philtrum, Wide nasal bridge, Deep philtrum, Epicanthus, Narrow palpebral... |
OMIM:618571 |
Lateral Meningocele Syndrome |
|
Meningocele, Downslanted palpebral fissures, Conductive hearing impairment, Sensorineural hearing... |
ORPHA:2789 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma, Cleft palate, H... |
OMIM:120433 |
Baraitser-Winter Syndrome 2 |
|
Retrognathia, Long philtrum, Wide mouth, Coloboma, Long palpebral fissure, Thin upper lip vermili... |
OMIM:614583 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Flar... |
OMIM:184260 |
Joubert Syndrome 14 |
|
Meningocele, Downslanted palpebral fissures, Morning glory anomaly, Encephalocele, Coloboma, Opti... |
OMIM:614424 |
3Mc Syndrome 2 |
|
Downslanted palpebral fissures, Cleft upper lip, High palate, Limited elbow movement, Wide nasal ... |
OMIM:265050 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Elbow dislocation, Mesomelia, Abnormal m... |
ORPHA:2631 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Broad foot, Abnormality of retinal pigmentation, Brachydactyly, Cerebellar atrophy |
ORPHA:3085 |
Schinzel-Giedion Syndrome |
|
Infantile sensorineural hearing impairment, Delayed eruption of teeth, Micrognathia, Abnormality ... |
ORPHA:798 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Dysdi... |
OMIM:157900 |
Jawad Syndrome |
|
Retrognathia, Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle pha... |
OMIM:251255 |
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 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Ulnar deviation of finger, Micromelia, Elbow dislocation, Hypoplasia of... |
ORPHA:2249 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Microretrognathia, Mul... |
OMIM:236500 |
Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Coxa valga, Cone-shaped metacarpal epiphyses, Micromelia, Abnormal diaphys... |
ORPHA:1240 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal vertebral morphology, Bilateral coxa valga, Abnormal ilium morphology, Platyspondyly |
ORPHA:163665 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Radioulnar dislocatio... |
ORPHA:2741 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Melanocytic nevus, Short metacarpal, Long hallux, Epiphyseal stippling, ... |
OMIM:101800 |
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Widely-spaced incisors, Optic atrophy, Synophrys, Hypoplasia of the maxilla, Thin upper lip vermi... |
OMIM:618737 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Non-midline cleft lip, Mandibular prognathia, Spinal dysraphism, Encephalocele, Wide... |
ORPHA:1908 |
Ramon Syndrome |
|
Conductive hearing impairment, Narrow palate, Sensorineural hearing impairment, Delayed eruption ... |
ORPHA:3019 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Incisor macrodontia, Long philtrum, Epicanthus, Long eyelashes, Narrow mouth, Thin vermilion bord... |
OMIM:615502 |
Abruzzo-Erickson Syndrome |
|
Macrotia, Coloboma, Radioulnar synostosis, Cleft palate, Hearing impairment, Protruding ear |
OMIM:302905 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short 5th metacarpal, Short finger, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:604381 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Coxa vara, Short metacarpal, Rhizomelia, Brachydactyly, Deviation of finger, Deforme... |
ORPHA:2831 |
Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br... |
OMIM:614886 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger |
OMIM:190680 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Hypoplasia of the radius, Micrognathia, Hand oligodactyly, Proximal placement of th... |
OMIM:602418 |
Saul-Wilson Syndrome |
|
Overtubulated long bones, Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypopla... |
OMIM:618150 |
Paternal Uniparental Disomy Of Chromosome X |
|
Cubitus valgus, Short metacarpal |
ORPHA:261524 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia, Coloboma, Orbital cyst, Microcornea |
OMIM:251505 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Macrotia, High palate, Epicanthus, Short philtrum, Alobar holoprosencephaly, Ptosis, Low-set ears... |
OMIM:615433 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
Scholte Syndrome |
|
Patellar hypoplasia, Small hand, Cerebellar atrophy, Short foot, Acromicria |
OMIM:300977 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Lumbar scoliosis, Lower limb undergrowth, Bowing of the legs, Plat... |
OMIM:612847 |
Temtamy Syndrome |
|
Downslanted palpebral fissures, Convex nasal ridge, Long philtrum, Lens luxation, Micrognathia, L... |
OMIM:218340 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Camptodactyly of finger, Avascular necrosis of the capital femoral epiphysis, Short metacarpal, M... |
ORPHA:77258 |
Second Metatarsal-Metacarpal Syndrome |
|
Abnormal metacarpal morphology, Platyspondyly |
OMIM:269630 |
Cleft Lip/Palate |
|
Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera... |
ORPHA:199306 |
Steinfeld Syndrome |
|
Aplasia of the nose, Bifid uvula, Median cleft lip and palate, Iris coloboma, Holoprosencephaly, ... |
OMIM:184705 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Micr... |
OMIM:609945 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Micrognathia, Missing ri... |
OMIM:251230 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Marshall Syndrome |
|
Thick upper lip vermilion, Wide nasal bridge, Hypoplastic frontal sinuses, Micrognathia, Vitreore... |
ORPHA:560 |
Hypochondroplasia |
|
Short toe, Genu varum, Abnormality of the elbow, Micromelia, Abnormal pelvic girdle bone morpholo... |
ORPHA:429 |
Metatropic Dysplasia |
|
Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Metaphyseal irregularity, Genu valg... |
OMIM:156530 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Micrognathia, Microphthalmia, Cleft palate |
OMIM:616570 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal |
ORPHA:228190 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Microtia, Arrhinencephaly, Radioulnar synostosis, Microre... |
ORPHA:1788 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Mixed hearing impairmen... |
OMIM:609166 |
Chromosome 13Q14 Deletion Syndrome |
|
Retinoblastoma, High palate, Deep philtrum, Epicanthus, Micrognathia, Hip dislocation, Everted lo... |
OMIM:613884 |
Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Stapes ankylosis, Conductive hea... |
OMIM:185800 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Radial bowing, Micrognathi... |
OMIM:249700 |
Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Micrognathia, Limb undergrowth, Micromelia |
ORPHA:1423 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Wrist swelling, Flat capital femoral epiphysis, Camptodactyly, Irregular acetabular roof, Beaking... |
ORPHA:1159 |
Melanocytic Nevus Syndrome, Congenital |
|
Long philtrum, Narrow nasal ridge, Deep philtrum, Congenital giant melanocytic nevus, Prominence ... |
OMIM:137550 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Downslanted palpebral fissures, Long philtrum, Wide nasal bridge, Wide mouth, Coloboma, Micrognat... |
OMIM:618659 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Brachydactyly |
OMIM:132450 |
16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Cleft upper lip, Sensorineural hearing i... |
ORPHA:261236 |
Liang-Wang Syndrome |
|
Downslanted palpebral fissures, Megalocornea, Macrodontia of permanent maxillary central incisor,... |
OMIM:618729 |
Nance-Horan Syndrome |
|
Supernumerary maxillary incisor, Macrotia, Prominent nose, Screwdriver-shaped incisors, Posterior... |
OMIM:302350 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Retinal detachment, Microphakia |
ORPHA:171844 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Coloboma, Anterior encephalocele, Bilateral cleft lip, Holoprosencephaly, Bilate... |
OMIM:601357 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Epicanthus, Blepharophimosis, Aplasia/Hypoplasia of the middle ear... |
ORPHA:3236 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... |
OMIM:304400 |
Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Cerebellar hypoplasia, Ataxia, Brachydactyly |
ORPHA:79320 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Absent forearm, Hand monodactyly, Absent tibia, Split foot, Short hallux, Split... |
OMIM:119100 |
Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, High palate, Epicanthus, Microcornea, Cataract, Narrow mouth, Microphthalmia, Upsla... |
ORPHA:2528 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
Cri-Du-Chat Syndrome |
|
Short metacarpal, Premature graying of hair, High axial triradius, Microretrognathia, Metatarsus ... |
OMIM:123450 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d... |
ORPHA:2972 |
Gordon Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger, Scoliosis, Hearing im... |
ORPHA:376 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly, Adducted thumb, Tarsal osteovalgus, Brachydactyly, Finger clinodactyly |
OMIM:614257 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Elbow dislocation, Hypoplasia of the ulna,... |
ORPHA:2634 |
Sillence Syndrome |
|
Large iliac wing, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphology of finge... |
ORPHA:3168 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Prominent nose, Supernumerary tooth, Microcornea, Cataract, Microphthalmia... |
ORPHA:627 |
Branchiootic Syndrome |
|
Abnormal nasolacrimal system morphology, Conductive hearing impairment, Sensorineural hearing imp... |
ORPHA:52429 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Cerebellar hypoplasia, Epiphyseal stippling, Short distal phalanx of finger, Ta... |
ORPHA:86822 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Short femoral neck, Short metacarpal, Small hand, Rhizomelia, Clinodactyly, H... |
OMIM:614813 |
Braddock-Carey Syndrome 2 |
|
Retrognathia, Downslanted palpebral fissures, Pierre-Robin sequence, Wide mouth, Microphthalmia, ... |
OMIM:619981 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Encephalocele, Optic atrophy, Anencephaly, Anal atresia, Ir... |
ORPHA:1590 |
Frontorhiny |
|
Camptodactyly of finger, Bifid tongue, Midline nasal groove, Hypoplastic frontal sinuses, Cranium... |
ORPHA:391474 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Inability to walk, Cerebellar hypoplasia, Clinodactyly, Camptodactyly, Ataxia, Brachydactyly, Cer... |
OMIM:616354 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Optic atrophy, Wide nasal bridge, Coloboma, Epicanthus, Bifid uvula,... |
OMIM:200990 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Platyspondyly |
OMIM:184095 |
Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Toe syndactyly, Hip d... |
OMIM:311300 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Elb... |
ORPHA:56304 |
Tarsal-Carpal Coalition Syndrome |
|
Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum... |
OMIM:186570 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Short metatarsal, Short foot, Short metacarpal, Small hand, Toe syndacty... |
OMIM:170390 |
Arthrogryposis, Distal, Type 5 |
|
Congenital finger flexion contractures, Retinal fold, Keratoglobus, High palate, Limited wrist ex... |
OMIM:108145 |
Trisomy 13 |
|
Abnormal antihelix morphology, Sensorineural hearing impairment, Long philtrum, Optic atrophy, An... |
ORPHA:3378 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Cerebellar hypoplasia, Short finger, Clinodactyly |
OMIM:300049 |
Crouzon Syndrome |
|
Conjunctivitis, Sagittal craniosynostosis, Conductive hearing impairment, High palate, Mandibular... |
OMIM:123500 |
Smith-Mccort Dysplasia 1 |
|
Short phalanx of finger, Genu varum, Genu valgum, Hypoplastic acetabulae, Metaphyseal irregularit... |
OMIM:607326 |
Dental Anomalies And Short Stature |
|
Intervertebral space narrowing, Mandibular prognathia, Narrow vertebral interpedicular distance, ... |
OMIM:601216 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Cleft upper lip, Sensorineural hearing impairment, Long philtrum, Wide nasal bridge... |
OMIM:243310 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cafe-au-lait spot, Hallux valgus, Short metacarpal, Micrognathia, Chiari type I malformation, Met... |
ORPHA:166035 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Non-midline cleft lip, Aplasia/Hypoplasia affecting the eye, Conductive hearing impairment, Senso... |
ORPHA:2549 |
Filippi Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Optic atrophy, Microdontia, Abnormality of dental m... |
OMIM:272440 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
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Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia, Hear... |
OMIM:610023 |
Holoprosencephaly 2 |
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Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft... |
OMIM:157170 |
Sandestig-Stefanova Syndrome |
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Retrognathia, Convex nasal ridge, High palate, Wide nasal bridge, Epicanthus, Underdeveloped trag... |
OMIM:618804 |
Branchiogenic Deafness Syndrome |
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Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... |
ORPHA:50815 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Cleft mandible, Prominence of the zygomatic bone, Synophrys, Everted lower lip vermilion, Promine... |
ORPHA:364577 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
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Camptodactyly of finger, Blepharophimosis, Micrognathia, Hydranencephaly, Holoprosencephaly, Low-... |
ORPHA:2570 |
Charge Syndrome |
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Optic atrophy, Delayed eruption of teeth, Epicanthus, Abnormal soft palate morphology, Iris colob... |
ORPHA:138 |
Hand-Foot-Genital Syndrome |
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Pseudoepiphyses, Short 5th finger, Short first metatarsal, Short 1st metacarpal, Delayed ossifica... |
OMIM:140000 |
Orofaciodigital Syndrome Xix |
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Cleft soft palate, Wide nasal bridge, Epicanthus, Microdontia, Additional crus of antihelix, Cupp... |
OMIM:620107 |
Peripheral Dysostosis |
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Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Hand-Foot-Genital Syndrome |
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Short first metatarsal, Short 1st metacarpal, Synostosis of carpal bones, Clinodactyly of the 5th... |
ORPHA:2438 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Waddling gait, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
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Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
Spinocerebellar Ataxia 11 |
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Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... |
OMIM:604432 |
Ossicular Malformations, Familial |
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Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
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Retinopathy, Prominent nose, Optic atrophy, Micrognathia, Macular atrophy, Microcornea, Cataract,... |
OMIM:616171 |
Ritscher-Schinzel Syndrome 2 |
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Cerebellar hypoplasia, Clinodactyly, Camptodactyly, Overlapping toe, Broad hallux, Syndactyly, Sh... |
OMIM:300963 |
Aprosencephaly Syndrome |
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Hand oligodactyly, Anencephaly, Aprosencephaly |
OMIM:207770 |
Greig Cephalopolysyndactyly Syndrome |
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Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... |
ORPHA:380 |
Treacher-Collins Syndrome |
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Conductive hearing impairment, Blepharospasm, Wide nasal bridge, Micrognathia, Iris coloboma, Too... |
ORPHA:861 |
Mandibulofacial Dysostosis With Alopecia |
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Lower eyelid coloboma, Conductive hearing impairment, Sparse eyelashes, Delayed eruption of prima... |
OMIM:616367 |
20Q11.2 Microdeletion Syndrome |
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Talipes calcaneovalgus, Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly |
ORPHA:444051 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
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Underdeveloped nasal alae, Camptodactyly of finger, Hypoplasia of the frontal bone, Conductive he... |
ORPHA:306542 |
Bardet-Biedl Syndrome 18 |
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Brachydactyly |
OMIM:615995 |
Acromesomelic Dysplasia 3 |
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Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... |
OMIM:609441 |
Thoracomelic Dysplasia |
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Genu valgum, Short ribs, Elbow dislocation, Abnormal pelvic girdle bone morphology, Limb undergro... |
ORPHA:1803 |
Ophthalmomandibulomelic Dysplasia |
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Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... |
OMIM:164900 |
Micro Syndrome |
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Macrotia, High palate, Optic atrophy, Wide nasal bridge, Micrognathia, Short philtrum, Abnormalit... |
ORPHA:2510 |
Monosomy 13Q14 |
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Retinoblastoma, Wide nasal bridge, Epicanthus, Micrognathia, Ptosis, Iris coloboma, Cataract, Hol... |
ORPHA:1587 |
Czech Dysplasia |
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Short toe, Short femoral neck, Coxa vara, Short metacarpal, Flat capital femoral epiphysis, Narro... |
OMIM:609162 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Gait ataxia, Cerebellar vermis atrophy, Small hand, Pes cavus, Sandal gap, Brachydactyly, Short f... |
OMIM:300354 |
Ruvalcaba Syndrome |
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Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... |
ORPHA:3121 |
Bardet-Biedl Syndrome 17 |
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Polydactyly, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Postaxial foot polyd... |
OMIM:615994 |
Pseudodiastrophic Dysplasia |
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Micrognathia, Tongue-like lumbar vertebral deformities, Hypoplasia of the odontoid process, Campt... |
OMIM:264180 |
Terminal Osseous Dysplasia |
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Camptodactyly of finger, Short toe, Mesomelic leg shortening, Abnormality of skin pigmentation, A... |
OMIM:300244 |
1Q41Q42 Microdeletion Syndrome |
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Underdeveloped nasal alae, Thick vermilion border, Submucous cleft hard palate, Depressed nasal b... |
ORPHA:250999 |
Xq21 Microdeletion Syndrome |
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Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Ankle clonus, ... |
ORPHA:1435 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
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Genu valgum, Anal atresia, Abnormal palate morphology, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
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Wide nasal bridge, Synophrys, Broad eyebrow, Hydrocephalus, Narrow palpebral fissure, Hypoplasia ... |
OMIM:618302 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
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Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, Meningoencephalocele, Optic nerve hypopla... |
OMIM:236670 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Conductive hearing impairment, Hydrocephalus, Abnormal metacarpal morphology, Abnormal sacrum mor... |
ORPHA:93262 |
Coffin-Lowry Syndrome |
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Aplasia/Hypoplasia of the cerebellum, Tapered finger, Short metacarpal, Gait disturbance, Abnorma... |
ORPHA:192 |
Symphalangism, Distal |
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Absent dorsal skin creases over affected joints, Distal symphalangism of hands, Distal foot symph... |
OMIM:185700 |
Retinitis Pigmentosa |
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Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge... |
ORPHA:791 |
Chromosome 8Q21.11 Deletion Syndrome |
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Underdeveloped nasal alae, Short palpebral fissure, Downslanted palpebral fissures, Sensorineural... |
OMIM:614230 |
Brachyolmia Type 1, Toledo Type |
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Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Short femoral neck, Bro... |
OMIM:271630 |
Synostoses, Tarsal, Carpal, And Digital |
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Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... |
OMIM:186400 |
8Q22.1 Microdeletion Syndrome |
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Abnormal antihelix morphology, Camptodactyly of finger, Abnormal nostril morphology, Sparse eyebr... |
ORPHA:178303 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
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Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Aicardi Syndrome |
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Cleft upper lip, Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Spina bifida, Prominence... |
OMIM:304050 |
Pseudohypoparathyroidism, Type Ia |
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Short toe, Short metacarpal, Short finger, Brachydactyly, Short metatarsal |
OMIM:103580 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Camptodactyly of finger, Ulnar deviation of finger, Micromelia, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
Smith-Lemli-Opitz Syndrome |
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Bifid tongue, Optic atrophy, Wide nasal bridge, Epicanthus, Micrognathia, Hip dislocation, Iris c... |
ORPHA:818 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
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Cerebellar vermis atrophy, Inability to walk, Cerebellar hypoplasia, Clinodactyly, Ataxia, Syndac... |
OMIM:618087 |
Bresek Syndrome |
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Convex nasal ridge, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Iris coloboma, ... |
ORPHA:85284 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
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Abnormality of the elbow, Abnormality of the wrist, Split hand, Micromelia, Postaxial hand polyda... |
ORPHA:2491 |
Roifman Syndrome |
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Short toe, Hip contracture, Short metacarpal, Short digit, Clinodactyly of the 5th finger, Single... |
OMIM:616651 |
Craniofacial-Deafness-Hand Syndrome |
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Camptodactyly of finger, Downslanted palpebral fissures, Aplasia/Hypoplasia involving the nose, S... |
ORPHA:1529 |
Trichorhinophalangeal Syndrome, Type I |
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Ivory epiphyses of the distal phalanges of the hand, Avascular necrosis of the capital femoral ep... |
OMIM:190350 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
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Conjunctivitis, Conical tooth, Cleft upper lip, Conductive hearing impairment, Wide nasal bridge,... |
OMIM:106260 |
Roifman-Chitayat Syndrome |
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Umbilical hernia, Short metatarsal, Cone-shaped epiphysis, Short metacarpal |
OMIM:613328 |
Chromosome 22Q11.2 Duplication Syndrome |
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Downslanted palpebral fissures, High palate, Depressed nasal ridge, Epicanthus, Micrognathia, Vel... |
OMIM:608363 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
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Sensorineural hearing impairment, Coloboma, Posteriorly rotated ears |
OMIM:618295 |
Walker-Warburg Syndrome |
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Anophthalmia, Optic atrophy, Retinal dystrophy, Bifid uvula, Protruding ear, Submucous cleft hard... |
ORPHA:899 |
Atkin-Flaitz Syndrome |
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Macrotia, Maxillary lateral incisor microdontia, Everted lower lip vermilion, Broad nasal tip, An... |
ORPHA:1193 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
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Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... |
ORPHA:1113 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
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Short phalanx of finger, Short toe, Hypoplastic iliac wing, Short foot, Short metacarpal, Short l... |
OMIM:611717 |
Eng-Strom Syndrome |
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Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
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11 pairs of ribs, Clinodactyly of the 2nd finger, Coxa valga, Short foot, Wide pubic symphysis, H... |
OMIM:620073 |
Van Maldergem Syndrome 1 |
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Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Epicanthus, Micrognathia, ... |
OMIM:601390 |
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