banner
Genes Phenotypes Help, News, Blog

Gene: Gas1 MGI:95655

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
growth arrest specific 1
Synonyms:
Gas-1

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gas1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Gas1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
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, Rodríguez 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
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia, Hear... OMIM:610023
Holoprosencephaly 2
Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft... OMIM:157170
Sandestig-Stefanova Syndrome
Retrognathia, Convex nasal ridge, High palate, Wide nasal bridge, Epicanthus, Underdeveloped trag... OMIM:618804
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os... ORPHA:50815
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Prominence of the zygomatic bone, Synophrys, Everted lower lip vermilion, Promine... ORPHA:364577
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Blepharophimosis, Micrognathia, Hydranencephaly, Holoprosencephaly, Low-... ORPHA:2570
Charge Syndrome
Optic atrophy, Delayed eruption of teeth, Epicanthus, Abnormal soft palate morphology, Iris colob... ORPHA:138
Hand-Foot-Genital Syndrome
Pseudoepiphyses, Short 5th finger, Short first metatarsal, Short 1st metacarpal, Delayed ossifica... OMIM:140000
Orofaciodigital Syndrome Xix
Cleft soft palate, Wide nasal bridge, Epicanthus, Microdontia, Additional crus of antihelix, Cupp... OMIM:620107
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Hand-Foot-Genital Syndrome
Short first metatarsal, Short 1st metacarpal, Synostosis of carpal bones, Clinodactyly of the 5th... ORPHA:2438
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Dwarfism With Stiff Joints And Ocular Abnormalities
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... OMIM:127200
Spinocerebellar Ataxia 11
Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Progressive cerebel... OMIM:604432
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Prominent nose, Optic atrophy, Micrognathia, Macular atrophy, Microcornea, Cataract,... OMIM:616171
Ritscher-Schinzel Syndrome 2
Cerebellar hypoplasia, Clinodactyly, Camptodactyly, Overlapping toe, Broad hallux, Syndactyly, Sh... OMIM:300963
Aprosencephaly Syndrome
Hand oligodactyly, Anencephaly, Aprosencephaly OMIM:207770
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... ORPHA:380
Treacher-Collins Syndrome
Conductive hearing impairment, Blepharospasm, Wide nasal bridge, Micrognathia, Iris coloboma, Too... ORPHA:861
Mandibulofacial Dysostosis With Alopecia
Lower eyelid coloboma, Conductive hearing impairment, Sparse eyelashes, Delayed eruption of prima... OMIM:616367
20Q11.2 Microdeletion Syndrome
Talipes calcaneovalgus, Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly ORPHA:444051
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Underdeveloped nasal alae, Camptodactyly of finger, Hypoplasia of the frontal bone, Conductive he... ORPHA:306542
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Broad foot... OMIM:609441
Thoracomelic Dysplasia
Genu valgum, Short ribs, Elbow dislocation, Abnormal pelvic girdle bone morphology, Limb undergro... ORPHA:1803
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Coxa valga, Radial bowing, Ulnar deviated club hands, Lateral humeral con... OMIM:164900
Micro Syndrome
Macrotia, High palate, Optic atrophy, Wide nasal bridge, Micrognathia, Short philtrum, Abnormalit... ORPHA:2510
Monosomy 13Q14
Retinoblastoma, Wide nasal bridge, Epicanthus, Micrognathia, Ptosis, Iris coloboma, Cataract, Hol... ORPHA:1587
Czech Dysplasia
Short toe, Short femoral neck, Coxa vara, Short metacarpal, Flat capital femoral epiphysis, Narro... OMIM:609162
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Cerebellar vermis atrophy, Small hand, Pes cavus, Sandal gap, Brachydactyly, Short f... OMIM:300354
Ruvalcaba Syndrome
Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... ORPHA:3121
Bardet-Biedl Syndrome 17
Polydactyly, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Postaxial foot polyd... OMIM:615994
Pseudodiastrophic Dysplasia
Micrognathia, Tongue-like lumbar vertebral deformities, Hypoplasia of the odontoid process, Campt... OMIM:264180
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Abnormality of skin pigmentation, A... OMIM:300244
1Q41Q42 Microdeletion Syndrome
Underdeveloped nasal alae, Thick vermilion border, Submucous cleft hard palate, Depressed nasal b... ORPHA:250999
Xq21 Microdeletion Syndrome
Stapes ankylosis, Conductive hearing impairment, Sensorineural hearing impairment, Ankle clonus, ... ORPHA:1435
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Genu valgum, Anal atresia, Abnormal palate morphology, Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Intellectual Developmental Disorder, Autosomal Recessive 68
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
Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, Meningoencephalocele, Optic nerve hypopla... OMIM:236670
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Conductive hearing impairment, Hydrocephalus, Abnormal metacarpal morphology, Abnormal sacrum mor... ORPHA:93262
Coffin-Lowry Syndrome
Aplasia/Hypoplasia of the cerebellum, Tapered finger, Short metacarpal, Gait disturbance, Abnorma... ORPHA:192
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Distal symphalangism of hands, Distal foot symph... OMIM:185700
Retinitis Pigmentosa
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Wide nasal bridge... ORPHA:791
Chromosome 8Q21.11 Deletion Syndrome
Underdeveloped nasal alae, Short palpebral fissure, Downslanted palpebral fissures, Sensorineural... OMIM:614230
Brachyolmia Type 1, Toledo Type
Back pain, Intervertebral space narrowing, Irregular vertebral endplates, Short femoral neck, Bro... OMIM:271630
Synostoses, Tarsal, Carpal, And Digital
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... OMIM:186400
8Q22.1 Microdeletion Syndrome
Abnormal antihelix morphology, Camptodactyly of finger, Abnormal nostril morphology, Sparse eyebr... ORPHA:178303
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Brachydactyly ORPHA:2787
Aicardi Syndrome
Cleft upper lip, Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Spina bifida, Prominence... OMIM:304050
Pseudohypoparathyroidism, Type Ia
Short toe, Short metacarpal, Short finger, Brachydactyly, Short metatarsal OMIM:103580
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Micromelia, Abnormal pelvic girdle bone morph... ORPHA:2928
Smith-Lemli-Opitz Syndrome
Bifid tongue, Optic atrophy, Wide nasal bridge, Epicanthus, Micrognathia, Hip dislocation, Iris c... ORPHA:818
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Cerebellar vermis atrophy, Inability to walk, Cerebellar hypoplasia, Clinodactyly, Ataxia, Syndac... OMIM:618087
Bresek Syndrome
Convex nasal ridge, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Iris coloboma, ... ORPHA:85284
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... ORPHA:2370
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Abnormality of the wrist, Split hand, Micromelia, Postaxial hand polyda... ORPHA:2491
Roifman Syndrome
Short toe, Hip contracture, Short metacarpal, Short digit, Clinodactyly of the 5th finger, Single... OMIM:616651
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Aplasia/Hypoplasia involving the nose, S... ORPHA:1529
Trichorhinophalangeal Syndrome, Type I
Ivory epiphyses of the distal phalanges of the hand, Avascular necrosis of the capital femoral ep... OMIM:190350
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... ORPHA:1275
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conjunctivitis, Conical tooth, Cleft upper lip, Conductive hearing impairment, Wide nasal bridge,... OMIM:106260
Roifman-Chitayat Syndrome
Umbilical hernia, Short metatarsal, Cone-shaped epiphysis, Short metacarpal OMIM:613328
Chromosome 22Q11.2 Duplication Syndrome
Downslanted palpebral fissures, High palate, Depressed nasal ridge, Epicanthus, Micrognathia, Vel... OMIM:608363
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment, Coloboma, Posteriorly rotated ears OMIM:618295
Walker-Warburg Syndrome
Anophthalmia, Optic atrophy, Retinal dystrophy, Bifid uvula, Protruding ear, Submucous cleft hard... ORPHA:899
Atkin-Flaitz Syndrome
Macrotia, Maxillary lateral incisor microdontia, Everted lower lip vermilion, Broad nasal tip, An... ORPHA:1193
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor... ORPHA:1113
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Short toe, Hypoplastic iliac wing, Short foot, Short metacarpal, Short l... OMIM:611717
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly ORPHA:1937
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Clinodactyly of the 2nd finger, Coxa valga, Short foot, Wide pubic symphysis, H... OMIM:620073
Van Maldergem Syndrome 1
Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Epicanthus, Micrognathia, ... OMIM:601390