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Gene: Ror2 MGI:1347521

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Gene Summary

Name:
receptor tyrosine kinase-like orphan receptor 2
Synonyms:
Ntrkr2

Order Alleles

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal limb morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal retina vasculature morphology Ror2em1(IMPC)Mbp HET Early adult 1.75×10-05
cleft palate Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Ror2em1(IMPC)Mbp HOM E15.5 0.00
embryonic growth retardation Ror2em1(IMPC)Mbp HOM E15.5 0.00
polydactyly Ror2em1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Ror2em1(IMPC)Mbp HET Early adult 2.07×10-06
abnormal craniofacial morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal vitreous body morphology Ror2em1(IMPC)Mbp HET   Early adult 3.11×10-07
increased grip strength Ror2em1(IMPC)Mbp HET Early adult 3.13×10-05
preweaning lethality, complete penetrance Ror2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal tail morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
cataract Ror2em1(IMPC)Mbp HET   Early adult 3.21×10-07

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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.

Gross Morphology Embryo E14.5-E15.5

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18 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Ror2 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 associated to Ror2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion,... OMIM:268310
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Ectopic anus, Toe syndactyly, Micrognat... ORPHA:1507
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Wi... OMIM:113000

The table below shows human diseases predicted to be associated to Ror2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Multiple Epiphyseal Dysplasia, Lowry Type
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Fixed elbow flexi... ORPHA:166016
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... OMIM:607778
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... OMIM:601376
Eiken Syndrome
Short phalanx of finger, Broad foot, Thin bony cortex, Abnormal trabecular bone morphology, Narro... ORPHA:79106
Brachydactyly, Type A1, D
Short distal phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Clinodactyly of t... OMIM:616849
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Leri-Weill Dyschondrosteosis
Short tibia, Short 4th metacarpal, Abnormal carpal morphology, Coxa valga, Increased carrying ang... OMIM:127300
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Limitation of join... OMIM:619598
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Depressed nasal ridge, Short long bone, Epiphyseal stippling, ... OMIM:118651
Metaphyseal Acroscyphodysplasia
Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Short palm, Short toe... OMIM:250215
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... OMIM:112910
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Limited elbow extension, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Ir... ORPHA:1856
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... ORPHA:3104
Rhizomelic Dysplasia, Patterson-Lowry Type
Wide nose, Hyperlordosis, Genu valgum, Mandibular prognathia, Rhizomelia, Coxa vara, Short metaca... ORPHA:2831
Femoral-Facial Syndrome
Micrognathia, Short femur, Abnormal rib morphology, Cleft palate, Talipes equinovarus, Orofacial ... ORPHA:1988
Atelosteogenesis, Type I
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... OMIM:108720
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Fibrochondrogenesis 1
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Short pa... OMIM:228520
Ulna Metaphyseal Dysplasia Syndrome
Abnormality of fibula morphology, Depressed nasal ridge, Microdontia, Abnormality of dental morph... ORPHA:1837
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Depressed nasal bridge, Ovoid vertebral bodies, Scoli... ORPHA:40
Omodysplasia 2
Rhizomelic arm shortening, Broad femoral neck, Anterior wedging of T11, Long philtrum, Short 1st ... OMIM:164745
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Abnormality of the humerus, Abnor... ORPHA:1570
Brachydactyly Type A1
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... ORPHA:93388
Faciocardiomelic Dysplasia, Lethal
Retrognathia, Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognat... OMIM:227270
Spondyloperipheral Dysplasia
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... OMIM:271700
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Acrodysostosis
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Abnormal form of the vertebra... ORPHA:950
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... OMIM:171480
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Metaphyseal Anadysplasia
Abnormal ulnar metaphysis morphology, Joint stiffness, Abnormality of the lower limb, Abnormal mo... ORPHA:1040
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Coxa valga, Temporomandibular joint ankylosis, Radial bowing, Ulnar devia... OMIM:164900
Brachydactyly, Type C
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... OMIM:113100
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur OMIM:600121
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Wide nasal bridge, Elbow dislocation, Madelung deformity... ORPHA:240
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... ORPHA:3269
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Coxa vara, Short metacarpal, Brachydactyly, Platyspondyly, Short metatarsal, Deformed... OMIM:601438
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal irregularity, Osteoporotic tarsals, Coxa valga, Sclerotic humeral metaphysis, Metaphy... OMIM:609052
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... ORPHA:174
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Boomerang Dysplasia
Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Narrow chest, Ab... ORPHA:1263
Microphthalmia With Limb Anomalies
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... OMIM:206920
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Metaphyseal cupping, Contractures of the large joints, Coxa vara, Short... OMIM:616716
Pseudoachondroplasia
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... ORPHA:750
Cleidorhizomelic Syndrome
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral sin... ORPHA:1453
Kyphomelic Dysplasia
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Cleft palate, Talipes equi... OMIM:211350
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Prominent nose, Wide anterior fontanel, Wide ... OMIM:201170
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... ORPHA:1350
Syndactyly Type 2
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... ORPHA:93403
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... OMIM:618395
Weismann-Netter Syndrome
Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b... ORPHA:3344
3M Syndrome
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Everted lower lip vermilion, Short n... ORPHA:2616
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the philtrum, Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th... ORPHA:3268
Seckel Syndrome 1
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc... OMIM:210600
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Acrofacial Dysostosis, Rodríguez Type
Finger syndactyly, Talipes equinovarus, Radioulnar synostosis, Microretrognathia, Abnormal pelvic... ORPHA:1788
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Supernumerary ribs, Short femur, Hypoplasia of the ulna, Narrow mouth,... OMIM:612447
Metatropic Dysplasia
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... OMIM:156530
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Micrognathia, Short neck, Limb undergrowth, Lacunar halos around chondrocyte... OMIM:256050
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... ORPHA:2634
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Horizontal ribs, Bifid tongue, Thoracic hypoplasia, Lateral clavicle hook, Cleft palate, Talipes ... OMIM:613091
Acro-Renal-Mandibular Syndrome
Micrognathia, Butterfly vertebrae, Hip dislocation, Short neck, Rudimentary to absent tibiae, Oro... ORPHA:958
Femur-Fibula-Ulna Complex
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... ORPHA:2019
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Limitation of joint mobility, Brac... ORPHA:3314
Mental Retardation Syndrome, Mietens-Weber Type
Elbow flexion contracture, Dislocated radial head, Narrow nose, Forearm undergrowth, Pes planus, ... OMIM:249600
Multiple Synostoses Syndrome 1
Thick upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Pectus excavatum, Dislocated ra... OMIM:186500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Conductive hearing impairment, Midface retrusion, Pectus excavatum, Spina bifida occulta, Everted... OMIM:617877
Atelosteogenesis Type Ii
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... ORPHA:56304
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, Flexion contracture, Rhizomelia, Wide nasal bridge, High palate, M... OMIM:222765
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... OMIM:609813
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Thick lower lip vermilion, Long ... ORPHA:969
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... ORPHA:2370
Cenani-Lenz Syndrome
Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, ... ORPHA:3258
Spondyloepiphyseal Dysplasia Congenita
Micrognathia, Short femur, Short neck, Aplasia/hypoplasia involving bones of the extremities, Cle... ORPHA:94068
Campomelic Dysplasia
Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Short neck, Cleft palate, Talipes equin... ORPHA:140
Brachydactyly, Type A1, C
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... OMIM:615072
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femo... OMIM:226900
Saul-Wilson Syndrome
Convex nasal ridge, Coxa valga, Micrognathia, Pectus excavatum, Hypoplasia of proximal fibula, Ma... OMIM:618150
Langer Mesomelic Dysplasia
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Abnormal carpal morpholog... ORPHA:2632
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Delayed ossification of pubic rami, Rhizomelia, High palate, Micrognathia, Joint contracture, Hip... OMIM:602471
Carpenter Syndrome 1
Brachycephaly, Deviation of finger, Conductive hearing impairment, Coxa valga, Lateral displaceme... OMIM:201000
Achondroplasia
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Thoracic hypoplasia, ... OMIM:100800
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Fused cervical v... ORPHA:3320
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Short n... OMIM:602613
Cenani-Lenz Syndactyly Syndrome
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp... OMIM:212780
Orofaciodigital Syndrome Viii
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Broad nasal tip, Bifid nasal... OMIM:300484
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Microgna... OMIM:268305
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... OMIM:112500
Ruvalcaba Syndrome
Short phalanx of finger, Downslanted palpebral fissures, Underdeveloped nasal alae, Short foot, S... OMIM:180870
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Thoracic hypoplasia, Wide nasal bridge, Micrognathia, Short femur, Multiple ... OMIM:616897
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... ORPHA:3329
Eiken Syndrome
Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti... OMIM:600002
Fibular Aplasia-Complex Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... ORPHA:2639
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
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Short ribs, Short long bone, Coarse metaphyseal trabecularization... OMIM:618961
Angioosteohypotrophic Syndrome
Thin bony cortex, Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radius, Apl... ORPHA:75508
Holt-Oram Syndrome
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... OMIM:142900
Orofaciodigital Syndrome Type 10
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Short neck, Hypoplasia of pr... ORPHA:2756
Microphthalmia With Limb Anomalies
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... ORPHA:1106
Symphalangism With Multiple Anomalies Of Hands And Feet
Conductive hearing impairment, Reduced proximal interphalangeal joint space, Abnormal palmar derm... ORPHA:3246
Congenital Disorder Of Glycosylation, Type Iig
Conductive hearing impairment, Wide nasal bridge, Micrognathia, Camptodactyly, Butterfly vertebra... OMIM:611209
Ritscher-Schinzel Syndrome 3
Short first metatarsal, Short 1st metacarpal, Wide anterior fontanel, Death in infancy, Micrognat... OMIM:619135
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Wide nose, Rhizomelia, Short ribs, Hypoplasia of the radius, Butterfly vertebrae, Sh... OMIM:607143
Multiple Metaphyseal Dysplasia
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Depressed nasal ridge, Abnormal metaphysis morpho... ORPHA:93430
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis, Prominent nose OMIM:266255
Sugarman Brachydactyly
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... OMIM:272150
Dysspondyloenchondromatosis
Metaphyseal enchondromatosis, Genu valgum, Generalized joint laxity, Vertebral segmentation defec... ORPHA:85198
Mesomelic Dysplasia, Nievergelt Type
Sacral dimple, Camptodactyly of finger, Genu valgum, Genu varum, Finger syndactyly, Radioulnar sy... ORPHA:2633
Odontochondrodysplasia
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Death in inf... ORPHA:166272
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion,... OMIM:268310
Ulnar Hemimelia
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... ORPHA:93320
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia, Pectus excavatum OMIM:607278
Epiphyseal Dysplasia, Multiple, 1
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Avascula... OMIM:132400
Codas Syndrome
Short phalanx of finger, Atrioventricular canal defect, Conductive hearing impairment, Delayed er... OMIM:600373
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia, Depressed... OMIM:277150
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Rhizomelia,... ORPHA:3098
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormali... ORPHA:294975
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... ORPHA:2635
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... OMIM:112700
Poland Syndrome
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... OMIM:173800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa va... OMIM:608940
Multiple Epiphyseal Dysplasia, Beighton Type
Pedal edema, Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic plat... ORPHA:166011
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... ORPHA:2141
Kyphomelic Dysplasia
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... ORPHA:1801
Hypochondroplasia
Hyperlordosis, Short toe, Genu varum, Abnormality of the elbow, Osteoarthritis, Spinal canal sten... ORPHA:429
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Retrognathia, Vertebral segmentation defect, Abnormal metacarpal morphol... ORPHA:2631
Acromicric Dysplasia
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... OMIM:102370
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short phalanx of finger, Wide nasal bridge, Toe syndactyly, Micrognathia, Flared iliac wing, Apla... OMIM:609945
Odontochondrodysplasia 1
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Pulmonary hypoplasia, Genu... OMIM:184260
Atelosteogenesis Type I
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Abnormal ossification involvi... ORPHA:1190
Hypochondroplasia
Widened interpedicular distance, Genu varum, Short femoral neck, Short long bone, Brachydactyly, ... OMIM:146000
Weill-Marchesani Syndrome 2
Brachycephaly, Thin bony cortex, Elbow flexion contracture, Ascending aortic dissection, Delayed ... OMIM:608328
Anauxetic Dysplasia 2
Hyperlordosis, Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Posterior wedging ... OMIM:617396
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... OMIM:609616
Brachyolmia Type 1, Hobaek Type
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... OMIM:271530
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Convex nasal ridge, Micrognathia, Long thorax, Abnormal palate morphology, Tooth agenesis, Mesome... ORPHA:1277
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Ulnar deviation of finger, Hypoplasia of the ulna, Metatarsus adductus,... ORPHA:2249
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, High palate, Clinodactyly, Short nose, Cubitus valgus, Short foot, ... OMIM:300577
Chondrodysplasia With Joint Dislocations, Gpapp Type
Patellar dislocation, Wide nasal bridge, Micrognathia, Limb undergrowth, Limited elbow extension,... OMIM:614078
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... ORPHA:85169
Metaphyseal Acroscyphodysplasia
Short toe, Genu varum, Coxa valga, Depressed nasal ridge, Wide nasal bridge, Cone-shaped metacarp... ORPHA:1240
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Radial club hand, Abnormal nostril morphology, Long philtrum, De... ORPHA:2878
Brachydactyly Type A2
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... ORPHA:93396
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
Osteogenesis Imperfecta, Type X
Thin bony cortex, Thoracic hypoplasia, Micrognathia, Short femur, Fibular bowing, Dentinogenesis ... OMIM:613848
Microcephaly-Micromelia Syndrome
Short tibia, Wide nose, Absent thumb, Convex nasal ridge, Humeroradial synostosis, Micrognathia, ... OMIM:251230
Acromesomelic Dysplasia 2B
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... OMIM:228900
Pseudoachondroplasia
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... OMIM:177170
Autosomal Dominant Omodysplasia
Rhizomelia, Patellar dislocation, Short 1st metacarpal, Long philtrum, Micrognathia, Short nose, ... ORPHA:93328
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... ORPHA:93314
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Horizontal ribs, Thoraci... ORPHA:1505
Acrocapitofemoral Dysplasia
Hyperlordosis, Genu varum, Short thorax, Coxa vara, Flared iliac wing, Cone-shaped metacarpal epi... ORPHA:63446
Van Den Ende-Gupta Syndrome
Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... OMIM:600920
Bent Bone Dysplasia Syndrome 2
Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Short neck, Arthrogryposis multiplex co... OMIM:620076
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Narrow chest, Diaphyseal thickening, Inc... ORPHA:3144
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... OMIM:602111
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Kyphosis, Wide anterior fontanel, Micromelia, Short femur, Femoral bowing, Brac... ORPHA:1860
Brachydactyly, Type A1, B
Broad distal hallux, Short 5th metacarpal, Clinodactyly, Cone-shaped epiphyses of the phalanges o... OMIM:607004
Acrorenal Syndrome
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Desbuquois Dysplasia 1
Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg... OMIM:251450
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... OMIM:606835
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... ORPHA:93307
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Wide nasal bridge, Short long bone, Microgna... ORPHA:2256
Weill-Marchesani Syndrome 1
Brachycephaly, Thin bony cortex, Lumbar hyperlordosis, Broad phalanges of the hand, Narrow palate... OMIM:277600
Mesomelic Dysplasia, Savarirayan Type
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... ORPHA:85170
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Dumbbell-shaped long bone, Rhizomelia, Glossoptosis, Micrognathia, Femoral bowing, Short femur, B... ORPHA:440354
Becker Nevus Syndrome
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnor... ORPHA:64755
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Ectopic anus, Toe syndactyly, Micrognat... ORPHA:1507
Tetrasomy X
Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th finger, Joint hyperflexibility, Bra... ORPHA:9
Kinsship Syndrome
Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Cervical ribs, Dislocated radial head, Sh... OMIM:619297
Brachydactyly Type A7
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... ORPHA:93397
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Pear-shaped vertebrae, Coxa vara, Rhizomelia, Short femoral neck, Decreased hip abduc... OMIM:183849
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand OMIM:313350
Ivic Syndrome
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... OMIM:147750
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Wide nose, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ulna, Everted lower lip v... ORPHA:357175
Intellectual Developmental Disorder, Autosomal Recessive 35
Wide nose, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ulna, Everted lower lip v... OMIM:615162
Campomelic Dysplasia
Short phalanx of finger, Irregular dentition, Thoracic hypoplasia, Hallux valgus, Micrognathia, H... OMIM:114290
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Dela... OMIM:143095
Cutis Laxa, Autosomal Recessive, Type Iie
Genu varum, Convex nasal ridge, High palate, Long philtrum, Wide nasal bridge, Short thorax, Thic... OMIM:619451
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange... OMIM:618167
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Sparse eyebrow, Entropion, Kyphosis, Micrognathia, Thin eyebrow, Clinodactyly, Pectus excavatum, ... OMIM:609944
Mietens Syndrome
Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Wide nasal... ORPHA:2557
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized ... ORPHA:2790
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... OMIM:155050
Multiple Synostoses Syndrome
Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... ORPHA:3237
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... ORPHA:52056
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Horizontal ribs, Micrognathia, Short neck, Lateral clavicle hook, Cleft palate, Narr... OMIM:617925
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Horizontal ribs, Bifid tongue, Unicoronal synostosis, Cleft palate, Narrow greater s... OMIM:616300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad foot, Abnormal carpal morphology, Abnormal rib morphology, Abnormal metaphysis morphology, ... ORPHA:93351
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Abnormality of the wrist, Split hand, Micromelia, Postaxial hand polyda... ORPHA:2491
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, 2-3 toe syndactyly, Stapes ankylosis, Brachycephaly, Skull asymmetry, Wide na... OMIM:614701
Brachydactyly, Type A2
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... OMIM:112600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Coxa valga, Micrognathia, Increased bone mineral density, Short neck, Ovoid vertebral bodies, Fla... ORPHA:163649
Ulnar Hypoplasia
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... OMIM:191440
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... ORPHA:1275
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi... OMIM:234250
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Broad femoral neck, Genu valgum, Coxa vara, Flat distal femoral epiphysis, Short femoral neck, Ep... OMIM:609324
Pde4D Haploinsufficiency Syndrome
Short phalanx of finger, Micrognathia, Prominent nasal tip, Caudal interpedicular narrowing, Broa... ORPHA:439822
Brachydactyly, Type A4
Talipes calcaneovalgus, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd f... OMIM:112800
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Patellar hypoplasia, Patellar aplasia, Patellar dislocation, Coxa vara, High palate, Micrognathia... OMIM:147891
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Camptodactyly of finger, Respiratory insufficiency, Prominent occiput, Spina bifida ... ORPHA:2311
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Bell-shaped thorax, Short ribs, Abnormal pelvic girdle bone morpholog... ORPHA:1803
Juberg-Hayward Syndrome
Wide nose, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of th... ORPHA:2319
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly ORPHA:1471
Maxillonasal Dysplasia
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... ORPHA:1248
Craniosynostosis-Mental Retardation-Clefting Syndrome
Convex nasal ridge, Lower limb undergrowth, Forearm undergrowth, Craniosynostosis, Orofacial cleft OMIM:218650
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Hypoplastic pubic bone, Coxa vara, Anterior... OMIM:184250
Acrocephalopolydactyly
Thoracic hypoplasia, Depressed nasal ridge, Short long bone, Short nose, Limb undergrowth, Short ... ORPHA:221054
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Flexion contracture, Thoracic hypoplasia, Wide nasal bridge, Rhizo-meso-... OMIM:611717
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Hhhh Syndrome
Hemiatrophy OMIM:306960
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Micrognathia, Micromelia, Abnormal pelvis b... ORPHA:1426
Alagille Syndrome
Brachycephaly, Micrognathia, Spina bifida occulta, Delayed skeletal maturation, Peripheral pulmon... ORPHA:52
Cono-Spondylar Dysplasia
Kyphosis, Short 4th toe, Short lower limbs, Cone-shaped epiphyses of the phalanges of the hand, E... ORPHA:420794
Schneckenbecken Dysplasia
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Short neck... OMIM:269250
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short phalanx of finger, Camptodactyly of finger, Tapered finger, Delayed eruption of teeth, Flat... OMIM:612350
Brachydactyly-Syndactyly Syndrome
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... OMIM:610713
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... OMIM:151210
Atelosteogenesis Type Iii
Short tibia, Thoracic hypoplasia, Vertebral hypoplasia, Abnormal cervical curvature, Short tubula... ORPHA:56305
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... ORPHA:93333
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Conductive hearing impairment, Absence of labia majora, Micrognathia, Pu... ORPHA:2990
Fetal Trimethadione Syndrome
Brachycephaly, Ambiguous genitalia, High palate, Ventricular septal defect, Micrognathia, Midface... ORPHA:1913
Stuve-Wiedemann Syndrome 1
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra... OMIM:601559
Ruvalcaba Syndrome
Convex nasal ridge, Synostosis of carpal bones, Short nose, Ptosis, Delayed puberty, Proximal pla... ORPHA:3121
Shox-Related Short Stature
Genu valgum, High palate, Micrognathia, Lower limb undergrowth, Short neck, Ulnar radial head dis... ORPHA:314795
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Short metacarpal, Narrow chest, Mesomelia, Brachydactyly, Postaxial hand polydactyly,... OMIM:611263
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
Acromegaloid Facial Appearance Syndrome
Tapered finger, Short 5th metacarpal, Blepharophimosis, Synophrys, Micrognathia, Large for gestat... OMIM:102150
Trichorhinophalangeal Syndrome, Type Iii
Short phalanx of finger, Underdeveloped nasal alae, Avascular necrosis of the capital femoral epi... OMIM:190351
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... OMIM:609441
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... ORPHA:457395
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Sandestig-Stefanova Syndrome
Retrognathia, Convex nasal ridge, High palate, Wide nasal bridge, Primary microcephaly, Underdeve... OMIM:618804
Acrodysostosis 2 With Or Without Hormone Resistance
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... OMIM:614613
Diastrophic Dysplasia
Camptodactyly of finger, Micrognathia, Increased bone mineral density, Elbow dislocation, Hypopla... ORPHA:628
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Robinow Syndrome
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Hypop... ORPHA:97360
Paget Disease Of Bone 2, Early-Onset
Increased susceptibility to fractures, Short femur, Femoral bowing, Osteosclerosis of the ulna, O... OMIM:602080
Greenberg Dysplasia
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... OMIM:215140
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna OMIM:314360
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
17Q21.31 Microduplication Syndrome
High palate, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short philtrum, Short ... ORPHA:217340
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Hypoplastic pubic bone, Thoracic hypoplasia, Short long bone, Flat acetabu... OMIM:608728
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Wide nasal bridge, Clinodactyly, Spindle-shaped finger, Abnormal vertebral morpholog... ORPHA:166024
Mesomelic Dysplasia, Savarirayan Type
Short tibia, Abnormal foot morphology, Abnormal thorax morphology, Hip dislocation, Talipes equin... OMIM:605274
Coffin-Lowry Syndrome
Tapered finger, Abnormality of neuronal migration, Delayed eruption of teeth, Pectus excavatum, E... ORPHA:192
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Abnormality of the knee, Genu valgum, Coxa vara, Abnormality of the epiphyses of the ... ORPHA:166002
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Depressed nasal ridge,... OMIM:300863
Chromosome 9P Deletion Syndrome
Tapered finger, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th toe, Midface retrusion, ... OMIM:158170
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Butterfly ... OMIM:200980
Syndactyly, Type Iv
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... OMIM:186200
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Kyphosis, Delayed ossification of carpal bones, Brachydactyly, Pectus carinat... OMIM:618392
Orofaciodigital Syndrome Xviii
Genu valgum, Wide nasal bridge, Short philtrum, Diastema, Accessory oral frenulum, Cervical ribs,... OMIM:617927
Epiphyseal Dysplasia, Multiple, 7
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... OMIM:617719
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limb undergrowth, Limited elbow extens... ORPHA:156728
Metaphyseal Chondrodysplasia, Spahr Type
Hyperlordosis, Genu varum, Progressive leg bowing, Abnormality of the dentition, Hip dysplasia, S... ORPHA:2501
W Syndrome
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... ORPHA:2804
Ring Chromosome 4 Syndrome
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... ORPHA:1447
Syndactyly Type 5
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... ORPHA:93406
Osteoglophonic Dysplasia
Short phalanx of finger, Short neck, Limb undergrowth, Short palm, Pseudoarthrosis, Increased sus... OMIM:166250
Diastrophic Dysplasia
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Cervical kyphosis, Short fin... OMIM:222600
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Enlarged thorax, Tapered finger, Wide nasal bridge, Abnormal cardi... ORPHA:251071
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short palpebral fissure, Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of t... ORPHA:370010
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coxa valga, Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Flattened e... OMIM:618363
Eng-Strom Syndrome
Camptodactyly of finger, Arthritis, Pectus excavatum, Scoliosis, Brachydactyly ORPHA:1937
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Wide nasal bridge, Micrognathia, Bifid uvula, Camptodactyly, Pectus e... OMIM:300373
Anauxetic Dysplasia 3
Hip subluxation, Retrognathia, Genu valgum, Metaphyseal cupping, Wide anterior fontanel, Short me... OMIM:618853
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal OMIM:112410
Aarskog-Scott Syndrome
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pectus excavatum, Everted ... ORPHA:915
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle ph... OMIM:156510
Postaxial Acrofacial Dysostosis
Conical tooth, Midgut malrotation, Supernumerary vertebrae, Cleft upper lip, Abnormal foot morpho... OMIM:263750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Wide nasal bridge, Narrow chest, Micrognathia, Short philtrum, Downturned corners of ... ORPHA:93267
Omodysplasia 1
Short tibia, Limited elbow flexion, Limited knee flexion/extension, Anterolateral radial head dis... OMIM:258315
Catel-Manzke Syndrome
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Pectus excavatum, Hyperphalangy of the 2nd... OMIM:616145
Mesomelic Limb Shortening And Bowing
Mesomelic leg shortening, Camptodactyly of finger, Retrognathia, Micrognathia, Bowing of the legs... OMIM:249710
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Mueller-Weiss Syndrome
Pedal edema, Fragmented, irregular epiphyses, Tibial torsion, Limitation of movement at ankles, F... ORPHA:566943
Otospondylomegaepiphyseal Dysplasia
Short phalanx of finger, Micrognathia, Bifid uvula, Short neck, Limb undergrowth, Fibular bowing,... ORPHA:1427
Orofaciodigital Syndrome Iv
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Micrognathia, Foot po... OMIM:258860
Achondrogenesis, Type Ia
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Talipes equinovarus, Be... OMIM:200600
Acromesomelic Dysplasia 1
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... OMIM:602875
Meier-Gorlin Syndrome 6
Hypoplastic labia majora, Delayed skeletal maturation, Hip dysplasia, Short nose, Delayed puberty... OMIM:616835
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... OMIM:309350
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg... OMIM:311895
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Foot oligodactyly, Bilateral cleft lip, Short femur, Bilateral cleft palate, Sco... OMIM:601357
Cousin Syndrome
Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Wrist flexion contracture, Humeroradia... OMIM:260660
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... ORPHA:231736
Acrocraniofacial Dysostosis
Tapered finger, Coxa valga, Micrognathia, Flared iliac wing, Pectus excavatum, Spina bifida occul... ORPHA:949
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Increased bone mineral density, Short humerus, Ankylosis, Barrel-s... OMIM:239000
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Death in infancy, Narrow chest, Abnormal metaphys... ORPHA:1354
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Horizontal ribs, Short... OMIM:208500
Dyggve-Melchior-Clausen Disease
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... OMIM:223800
Orofaciodigital Syndrome Ix
Short tibia, High palate, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Broa... OMIM:258865
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... OMIM:271665
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Thick upper lip vermilion, Enlarged thorax, Wide nasal bridge, Rhizo-meso-acromelic limb shorteni... ORPHA:163654
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Increased ... ORPHA:90652
Synpolydactyly 1
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... OMIM:186000
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short thorax, Wide nasal bridge, Vertebral segmentation defect, Missing ribs, Post... ORPHA:1797
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... ORPHA:93308
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... ORPHA:93359
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Vertebral segmentation defect, Abnormality of the humerus, Synostosis of... ORPHA:1836
Atelosteogenesis, Type Iii
Horizontal sacrum, Rhizomelia, Micrognathia, Radial bowing, Cervical kyphosis, Flat acetabular ro... OMIM:108721
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... OMIM:619217
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ankle clonus, High palate, Long philtrum, Deep philtrum, Short nose, Hypoplasia of the ulna, Pect... OMIM:615398
Catel-Manzke Syndrome
Metatarsus valgus, Camptodactyly of finger, Micrognathia, Oral synechia, Clinodactyly of the 5th ... ORPHA:1388
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Broad foot, Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Peg-like cen... OMIM:300232
Acheiropodia
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... ORPHA:931
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... OMIM:250460
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... OMIM:274000
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, High palate, Death in infancy, Toe... OMIM:616809
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Decreased testicular size, Infertility, Short neck, Cubitus valgus, Micropenis,... ORPHA:261524
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Epicanthus, Anterior clefting of... OMIM:265000
Fibrochondrogenesis 2
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... OMIM:614524
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Achondroplasia
Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,... ORPHA:15
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Clinodactyly of the 2nd toe, Thumbs h... OMIM:211369
Duane-Radial Ray Syndrome
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Choanal at... OMIM:607323
Kniest Dysplasia
Conductive hearing impairment, Dumbbell-shaped long bone, Hip dislocation, Midface retrusion, Pec... OMIM:156550
Femoral-Facial Syndrome
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Micrognathia, Aplasia/hypoplasia... OMIM:134780
Chst3-Related Skeletal Dysplasia
Intervertebral space narrowing, Genu valgum, Flexion contracture, Rhizomelia, Short metacarpal, D... ORPHA:263463
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... OMIM:200500
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... OMIM:156500
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Micrognathia, Elbow contracture, Pectus excavatum, Broad hallux, Short hallux, Sh... OMIM:304120
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Esophageal atresia, Hand polydactyly, Abnormal vertebral morphology, Anal atresia,... OMIM:314390
Aase-Smith Syndrome
Camptodactyly of finger, Multiple joint contractures, Joint stiffness, Aplasia/Hypoplasia of the ... ORPHA:916
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Bowing of... OMIM:612847
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Cranioectodermal Dysplasia 1
Wide nasal bridge, Microdontia, Pectus excavatum, Everted lower lip vermilion, Radial deviation o... OMIM:218330
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal morphology of ulna, Short neck, High palate, Abnormal metacarpal morphology ORPHA:2233
Baller-Gerold Syndrome
Brachycephaly, Absent thumb, Conductive hearing impairment, Aplasia of metacarpal bones, Microgna... OMIM:218600
Otopalatodigital Syndrome Type 1
Hypoplastic frontal sinuses, Wide nasal bridge, Abnormality of the tarsal bones, Increased bone m... ORPHA:90650
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna ORPHA:1122
Brachydactylous Dwarfism, Mseleni Type
Short toe, Protrusio acetabuli, Hip osteoarthritis, Brachytelomesophalangy, Abnormality of the wr... ORPHA:2619
Cranioectodermal Dysplasia
Finger syndactyly, Rhizomelia, Narrow chest, Microdontia, Hypodontia, Taurodontia, Clinodactyly o... ORPHA:1515
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Broad femoral neck, Genu valgum, Pseudoepiphyses, Irregular vertebral endplates, Tapered finger, ... OMIM:601668
Sponastrime Dysplasia
Hip subluxation, Broad foot, Aplasia of the nasal bone, Microdontia, Flat capital femoral epiphys... ORPHA:93357
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Platyspondyly, Micromelia, S... ORPHA:168555
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hyperlordosis, Mandibular prognathia, Cone-shaped epiphysis, Abnormal finger morphology, Large il... ORPHA:2511
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Depressed nasal rid... ORPHA:163966
Diamond-Blackfan Anemia 11
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... OMIM:614900
Acromesomelic Dysplasia, Hunter-Thompson Type
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... ORPHA:968
Otoonychoperoneal Syndrome
Knee flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Ankle flexion contra... OMIM:259780
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Tibial bowing, Fe... ORPHA:93356
Acrodysostosis 1 With Or Without Hormone Resistance
Short phalanx of finger, Epicanthus, Delayed eruption of teeth, Epiphyseal stippling, Hypoplastic... OMIM:101800
Boomerang Dysplasia
Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic iliac body, Hypoplastic nasal septum, A... OMIM:112310
Martsolf Syndrome 1
Short phalanx of finger, Brachycephaly, Finger joint hypermobility, Micrognathia, Metatarsus addu... OMIM:212720
Arthrogryposis, Distal, Type 1C
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Short... OMIM:619110
Codas Syndrome
Delayed eruption of teeth, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Ab... ORPHA:1458
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Generalized bone demineralization, Penile hypospadias, Short 5th finger, Abnormal bone ossificati... ORPHA:73230
Leri Pleonosteosis
Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Abnormally s... ORPHA:2900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Broad foot, Genu valgum, Metaphyseal dysplasia, Upper limb undergrowth, Capit... OMIM:271650
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Short neck, Limb undergrowth, Narrow greater sciatic notch, Delayed epiphys... OMIM:602557
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Rubinstein-Taybi Syndrome 1
Delayed cranial suture closure, Polydactyly, Flexion contracture, Convex nasal ridge, Patellar di... OMIM:180849
Brachydactyly Type C
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... ORPHA:93384
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathia, Hand oligodac... OMIM:602418
Otopalatodigital Syndrome, Type I
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Wide nasal bridge, To... OMIM:311300
Phocomelia, Schinzel Type
Humeroradial synostosis, Micrognathia, Short neck, Ectrodactyly, Cleft palate, Aplasia/Hypoplasia... ORPHA:2879
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Hip osteoarthritis, Flattened femoral head, Lumbar hyperlordosis, Hump-shaped mo... ORPHA:99642
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Tapered finger, Coxa valga, Midface retrusion, Radial deviation of finger, Posteriorly rotated ea... OMIM:301040
Tibial Hemimelia
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... ORPHA:93322
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Anauxetic Dysplasia 1
Microdontia, Atlantoaxial dislocation, Elbow flexion contracture, Short neck, Limited elbow exten... OMIM:607095
Gordon Syndrome
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Limitati... ORPHA:376
Craniofrontonasal Dysplasia
Camptodactyly of finger, Wide nasal bridge, Pectus excavatum, Orofacial cleft, Hand polydactyly, ... ORPHA:1520
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Limb und... OMIM:618019
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Bell-shaped thorax, Convex nasal ridge, Thoracic hypoplasia, Recurrent fract... OMIM:166210
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, A... ORPHA:1278
Cleidocranial Dysplasia
Brachycephaly, Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia... ORPHA:1452
Thanatophoric Dysplasia, Type Ii
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Platyspondyly, Flared metaphysis, Wide-cu... OMIM:187601
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology ORPHA:1078
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Hallux valgus, Toe syndactyly, Pectus excavatum, Scapular winging, Abnor... ORPHA:1327
Gombo Syndrome
Clinodactyly, Radial deviation of finger, Brachydactyly OMIM:233270
Autosomal Recessive Omodysplasia
Rhizomelia, Long philtrum, Micrognathia, Abnormal morphology of the radius, Short nose, Elbow dis... ORPHA:93329
Terminal Osseous Dysplasia
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Multiple joint contractures, Abnorm... OMIM:300244
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Acromesomelic Dysplasia 4
Short phalanx of finger, Wide nasal bridge, Synophrys, Beaking of vertebral bodies, Thick eyebrow... OMIM:619636
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short phalanx of finger, Wide nasal bridge, Midface retrusion, Limb undergrowth, Short thorax, Do... OMIM:617102
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... OMIM:300106
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Rhizomelia, Absent nasal bridge, Short finger, Irregular epiphyses, Joint ... OMIM:612813
Roifman Syndrome
Underdeveloped nasal alae, Downslanted palpebral fissures, Short toe, Irregular vertebral endplat... OMIM:616651
Diabetic Embryopathy
Abnormal aortic morphology, Spinal dysraphism, Ventricular septal defect, Microtia, Vertebral seg... ORPHA:1926
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Craniofacial hyperostosis, Abnormal pelvic girdle bone morphol... ORPHA:1802
C Syndrome
Wide nasal bridge, Epicanthus, Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial h... OMIM:211750
Steinfeld Syndrome
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Missing ribs, Bif... OMIM:184705
Orofaciodigital Syndrome X
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Depresse... OMIM:165590
Wiedemann-Rautenstrauch Syndrome
Delayed closure of the anterior fontanelle, Flexion contracture, Convex nasal ridge, Hypoplasia o... OMIM:264090
Pallister-Hall Syndrome
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Distal shortening of l... OMIM:146510
Restrictive Dermopathy 1
Flexion contracture, Convex nasal ridge, Micrognathia, Ankylosis, Sparse eyelashes, Rocker bottom... OMIM:275210
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Brachycephaly, Wide nasal bridge, Micrognathia, Recurrent sinusitis, Pectus excavatum, Overlappin... OMIM:213980
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Kyphosis, Hip dysplasia, Scol... ORPHA:1858
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Wi... OMIM:113000
Peripheral Dysostosis
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly OMIM:176305
Liebenberg Syndrome
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... OMIM:186550
Blepharonasofacial Malformation Syndrome
Underdeveloped nasal alae, Wide nose, Sparse lateral eyebrow, Finger syndactyly, Wide nasal bridg... ORPHA:1252
Urban-Rogers-Meyer Syndrome
Camptodactyly of finger, Recurrent fractures, Kyphosis, Epicanthus, Toe syndactyly, Micrognathia,... ORPHA:3409
Kbg Syndrome
Synophrys, Cervical ribs, Radial deviation of finger, Short neck, Delayed skeletal maturation, Ul... OMIM:148050
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... ORPHA:3266
Mesomelia-Synostoses Syndrome
Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral ... ORPHA:2496
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Mandibular prognathia, Patellar dislocation, Kyphosis, Epicanthus, Clinodactyly... ORPHA:2916
Achondrogenesis Type 1A
Short thorax, Short foot, Recurrent fractures, Abnormal enchondral ossification, Long philtrum, M... ORPHA:93299
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... ORPHA:1986
Arthrogryposis, Distal, Type 3
Short phalanx of finger, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of th... OMIM:114300
Dysostosis, Stanescu Type
Convex nasal ridge, Increased bone mineral density, Pectus excavatum, Short neck, Tooth agenesis,... ORPHA:1798
Hall-Riggs Syndrome
Prominent nose, Wide nasal bridge, Delayed eruption of teeth, Wide mouth, Thick vermilion border,... ORPHA:2107
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Humeroradial synostosis, Wide nasal bridge, Aplasia/hypoplasia of the femur, Elbow flexion contra... OMIM:276820
Wiedemann-Steiner Syndrome
Short phalanx of finger, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Wide nasal bridge,... OMIM:605130
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, Posterior rib ga... OMIM:117650
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... ORPHA:2839
Wolf-Hirschhorn Syndrome
Wide nasal bridge, Abnormal cardiac septum morphology, Micrognathia, Abnormal lip morphology, Abn... ORPHA:280
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Non-midline cleft lip, Finger syndactyly, Hypoplasia of the radius, Micr... ORPHA:246
Snijders Blok-Campeau Syndrome
Enamel hypoplasia, Prominent nose, High palate, Wide nasal bridge, Widely spaced teeth, Perimembr... OMIM:618205
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Irregular vertebral endplates, Flat distal femoral epiphysis, Flat capit... OMIM:614135
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wide nose, Iliac crest serration, Bell-shaped thorax, Metaphyseal cupping, Severe platyspondyly, ... OMIM:613320
Ververi-Brady Syndrome
Wide nose, Metaphyseal irregularity, Macrotia, Prominent nose, High palate, Wide mouth, Clinodact... OMIM:617982
Desbuquois Syndrome
Camptodactyly of finger, Bell-shaped thorax, Coxa valga, Patellar dislocation, Coxa vara, Small h... ORPHA:1425
Achondrogenesis Type 1B
Short thorax, Abnormal enchondral ossification, Long philtrum, Narrow chest, Micrognathia, Short ... ORPHA:93298
Kbg Syndrome
Bilateral conductive hearing impairment, Cervical ribs, Short neck, Delayed skeletal maturation, ... ORPHA:2332
Chondroectodermal Dysplasia With Night Blindness
Metaphyseal irregularity, Abnormality of the knee, Micrognathia, Abnormal patella morphology, Epi... ORPHA:319195
Occipital Horn Syndrome
Convex nasal ridge, Coxa valga, Pelvic bone exostoses, Pectus excavatum, Limited elbow extension,... OMIM:304150
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Depressed nasal bridge, Short nec... OMIM:612463
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Bifid tongue, Abnormal metacarpal morphology, Hand polydactyly,... ORPHA:2167
Cutis Laxa, Autosomal Recessive, Type Iid
Retrognathia, Downslanted palpebral fissures, Entropion, Wide nasal bridge, Narrow naris, Blephar... OMIM:617403
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
2-3 toe syndactyly, Convex nasal ridge, Finger joint hypermobility, Prominent nasal tip, Butterfl... OMIM:618870
Smith-Mccort Dysplasia 2
Short phalanx of finger, Decreased body weight, Flattened femoral head, Short neck, Flattened epi... OMIM:615222
Laurin-Sandrow Syndrome
Toe syndactyly, Abnormality of the wrist, Fibular duplication, Prominent nose, Preaxial foot poly... ORPHA:2378
Pierpont Syndrome
Broad foot, Prominent subcalcaneal fat pad, Everted lower lip vermilion, Short neck, Smooth philt... OMIM:602342
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Ulbright-Hodes Syndrome
Ovoid thoracolumbar vertebrae, Convex nasal ridge, Humeroradial synostosis, Micrognathia, Phocome... ORPHA:3404
Desbuquois Dysplasia 2
Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Epicanthus, Synophrys... OMIM:615777
Lethal Osteosclerotic Bone Dysplasia
Delayed cranial suture closure, Retrognathia, Mandibular aplasia, Depressed nasal ridge, Microgna... ORPHA:1832
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Conductive hearing impairmen... ORPHA:1826
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Micrognathia, Cleft palate, Posteriorly rotated ears, Frontal bossing, Hypertelori... OMIM:600325
Arthrogryposis, Distal, Type 2B2
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... OMIM:618435
Frank-Ter Haar Syndrome
Camptodactyly of finger, Mandibular prognathia, Kyphosis, Wide nasal bridge, Delayed eruption of ... ORPHA:137834
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Sillence Syndrome
Large iliac wing, Epicanthus, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphol... ORPHA:3168
Jeune Syndrome
Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Abnormal pelvic girdle b... ORPHA:474
Acrootoocular Syndrome
Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Pectus ex... ORPHA:2980
Schinzel-Giedion Syndrome
Infantile sensorineural hearing impairment, Delayed eruption of teeth, Micrognathia, Abnormal tho... ORPHA:798
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Camptodactyly, Overlapping toe, Smooth philtrum, Thin lower lip vermil... ORPHA:363444
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Brachycephaly, Patent foramen ovale, Macrotia, Plagiocephaly, Wide mouth, Open mouth, Clinodactyl... OMIM:616789
Opsismodysplasia
Tapered finger, Hypoplastic pubic bone, Joint stiffness, Hypoplastic vertebral bodies, Hypoplasti... ORPHA:2746
Moebius Syndrome
Short phalanx of finger, Epicanthus, Micrognathia, Camptodactyly, Radial deviation of finger, Sho... OMIM:157900
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Shprintzen-Goldberg Craniosynostosis Syndrome
Minimal subcutaneous fat, Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial hea... OMIM:182212
Robinow Syndrome, Autosomal Dominant 2