Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
preweaning lethality, complete penetrance Ror2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal limb morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal retina vasculature morphology Ror2em1(IMPC)Mbp HET Early adult 6.48×10-06
abnormal tail morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Ror2em1(IMPC)Mbp HOM E15.5 0.00
persistence of hyaloid vascular system Ror2em1(IMPC)Mbp HET Early adult 6.94×10-07
abnormal placenta vasculature Ror2em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology 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
cleft palate Ror2em1(IMPC)Mbp HOM E15.5 0.00
cataract Ror2em1(IMPC)Mbp HET Early adult 7.52×10-05
abnormal vitreous body morphology Ror2em1(IMPC)Mbp HET Early adult 7.12×10-05

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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

Images

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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.

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
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Abnormal ster... ORPHA:166016
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Sh... OMIM:616849
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... ORPHA:79106
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Depressed nasal ridge, Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short... OMIM:118651
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia... ORPHA:3104
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... OMIM:619598
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Ulna Metaphyseal Dysplasia Syndrome
Depressed nasal ridge, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal f... ORPHA:1837
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Talipes equinovarus, Radioulnar synostosis, Spreng... ORPHA:1988
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... OMIM:108720
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Joint... ORPHA:40
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar... OMIM:228520
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Broad femoral neck, Short 1st metacar... OMIM:164745
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Microglossia, Short thumb, Retrognathia, Microgna... OMIM:227270
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Elbow dislocation, Radial bowing, Lateral humeral condyle aplasia, Decrea... OMIM:164900
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Microglossia, Short tibia, Short thumb, Sandal gap, Radial c... ORPHA:1972
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio... ORPHA:93323
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer... OMIM:616716
Thiemann Disease, Familial Form
Limitation of joint mobility, Abnormal epiphysis morphology, Brachydactyly, Abnormal metaphysis m... ORPHA:3314
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Cleidorhizomelic Syndrome
Rhizomelia, Abnormal clavicle morphology, Bilateral single transverse palmar creases, Brachydacty... ORPHA:1453
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the dentition, Finger syndactyly, Radioulnar synostosis, Abnorma... ORPHA:3268
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal... ORPHA:1350
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Short femoral neck, Knee dislocation, Joint hypermobility, Narrow verte... OMIM:618395
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2-5 toe syndact... OMIM:206920
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Acrofacial Dysostosis Syndrome Of Rodriguez
Wide nasal bridge, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micr... OMIM:201170
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Mietens-Weber Syndrome
Elbow flexion contracture, Narrow nose, Pes planus, Dislocated radial head, Forearm undergrowth, ... OMIM:249600
Seckel Syndrome 1
Ivory epiphyses, Micrognathia, Talipes, Pes planus, High palate, Dislocated radial head, Cone-sha... OMIM:210600
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Reduced bone miner... ORPHA:2370
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongu... OMIM:613091
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Narrow mouth, Fibular hypoplasia, Su... OMIM:612447
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu v... ORPHA:56304
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty... OMIM:186500
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Rhizomelia, Os... OMIM:222765
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,... ORPHA:958
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Long philtrum, Thic... ORPHA:969
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Saul-Wilson Syndrome
Hypoplasia of the odontoid process, Micrognathia, Talipes equinovarus, Short metacarpal, Cone-sha... OMIM:618150
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... OMIM:602471
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Radioulnar synostosis, Dislocated radial head, Prominent nose OMIM:266255
Campomelic Dysplasia
Micrognathia, Bowing of the long bones, Talipes equinovarus, Short neck, Hypoplastic inferior ili... ORPHA:140
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... ORPHA:2639
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Low-set ears, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Ruvalcaba Syndrome
Small hand, Narrow chest, Kyphosis, Micromelia, Underdeveloped nasal alae, Downslanted palpebral ... OMIM:180870
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Radioulnar synostosis, Hypodontia, Enamel hypoplasia, Hypoplasia of t... OMIM:212780
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Scoliosis, Lower limb asymmetry, Genu valgum, Metaphyseal enchondro... ORPHA:85198
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Everted lower lip vermilion, High palate, Anterior open-bite malocclusion, Pierre-R... OMIM:617877
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Lumbar platyspondyly, Coarse metaphyseal trabecularization,... OMIM:618961
Orofaciodigital Syndrome Viii
Bifid nasal tip, Broad nasal tip, Short tibia, Polydactyly, Median cleft upper lip, High palate, ... OMIM:300484
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... ORPHA:75508
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short hallux, Small... OMIM:268305
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... ORPHA:1106
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren... OMIM:616897
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Anteverted nares, Epiphyseal stippling, Micrognathi... OMIM:619135
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphysis, Type A brachydact... OMIM:112700
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square p... ORPHA:166272
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Micrognathia, Cleft soft palate, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal thorax morphology, Po... ORPHA:294975
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Elbow dislocat... ORPHA:2633
Brachydactyly, Type A1
Short distal phalanx of finger, Proportionate shortening of all digits, Distal symphalangism of h... OMIM:112500
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Flexion contracture, Hypoplasia of the femoral head, Ovoid... OMIM:617396
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... OMIM:132400
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Small hand, Shallow acetabular fossae, Micrognathia, Narrow mouth, Cryptorchidism, ... OMIM:611209
Van Bogaert-Hozay Syndrome
Tooth malposition, Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of t... OMIM:277150
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... OMIM:173800
Metatropic Dysplasia
Depressed nasal bridge, Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia... ORPHA:2635
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe... OMIM:272150
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ... OMIM:184260
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... ORPHA:1277
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... ORPHA:2631
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Jo... ORPHA:1801
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Absent or minimally ossified verteb... ORPHA:1190
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... OMIM:182255
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Depressed nasal bridge, Abnormal epiphysis morphology... ORPHA:3098
Acromicric Dysplasia
Cone-shaped epiphysis, Fifth metacarpal with ulnar notch, Long philtrum, Thick lower lip vermilio... OMIM:102370
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Codas Syndrome
Crumpled ear, Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Sensorineural hear... OMIM:600373
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness... ORPHA:2249
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Pes planus, Beaking of vertebral bodies, Broad toe, Flat acetabular roof,... OMIM:609616
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Cubitus valgus, High palate, Short foot,... OMIM:300577
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... OMIM:268310
Hypochondroplasia
Depressed nasal bridge, Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident... OMIM:146000
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Patellar dislocation, Sh... OMIM:614078
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Ventricular septal defect,... OMIM:608328
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Narrow mouth, Hu... OMIM:251230
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Tetrasomy X
Abnormality of the dentition, Joint hypermobility, Radioulnar synostosis, Brachydactyly, Hip dysp... ORPHA:9
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri... ORPHA:2878
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Long philtrum, Short... ORPHA:93328
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ... ORPHA:63446
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Narrow chest, Micromelia, Femoral bowing, Micrognathia, Dumbbel... ORPHA:440354
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Radial deviation of finger, Short middle phalanx of toe, Brachyte... OMIM:606835
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... ORPHA:971
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Bent Bone Dysplasia Syndrome 2
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... OMIM:620076
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Cutis Laxa, Autosomal Recessive, Type Iie
Wide nasal bridge, Broad nasal tip, Scoliosis, Short thorax, Long philtrum, Thick lower lip vermi... OMIM:619451
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Greenberg Dysplasia
Platyspondyly, Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Abnormal ... ORPHA:1426
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Trichiasis, Sparse eyebrow, Radial deviation of finger, Clinodactyly, Thin eyebrow, Micrognathia,... OMIM:609944
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... ORPHA:2557
Familial Digital Arthropathy-Brachydactyly
Shortening of all middle phalanges of the toes, Short distal phalanx of finger, Shortening of all... ORPHA:85169
Becker Nevus Syndrome
Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern... ORPHA:64755
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal form of the vertebral ... ORPHA:3144
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2256
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Joint stiffness, Bilateral single transverse palmar creases, ... ORPHA:3237
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited pronation/supination of forearm OMIM:179300
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh... OMIM:251450
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Long philtrum, Thick nasal alae, Micrognathia, Thin upper lip vermilion, Hypoplasia... ORPHA:357175
Deafness, Autosomal Dominant 85
Cochlear nerve hypoplasia, Sensorineural hearing impairment OMIM:620227
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... ORPHA:93396
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Kyphosis, Short 4th toe, Anteverted nares, Short humerus, Short neck, Brach... ORPHA:420794
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Ventricular septal defect,... OMIM:277600
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... OMIM:600920
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Thick lower lip vermilion, Prominent nose, Hypoplasia of t... OMIM:234250
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Downturned corners of mouth, Long philtrum, Thick nasal alae, Micrognathia, Thin up... OMIM:615162
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane, Retinal detachment OMIM:620253
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing... ORPHA:1427
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Brachydactyly, Type A1, B
Short distal phalanx of finger, Radial deviation of finger, Clinodactyly, Type A brachydactyly, S... OMIM:607004
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Depressed nasal bridge, Narrow chest, Micromelia, Joint stiffnes... ORPHA:1860
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Talipes calcaneovalgus, Type A brachydactyly, Congen... OMIM:112800
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Thoracic hypoplasia, Short neck, Limb undergrowth, Brachy... ORPHA:221054
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Genu valgum, Broad foot, Pes planus, Sh... ORPHA:93351
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Lower limb undergrowth, Orofacial cleft, Convex nasal ridge, Craniosynostosis, Forearm undergrowth OMIM:218650
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Retinitis Pigmentosa 40
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:613801
Kinsship Syndrome
Ankyloglossia, Micrognathia, Short neck, Pes planus, Dislocated radial head, Hip dislocation, Ost... OMIM:619297
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Broad thumb, Type B brachydactyly, Camptodactyly of finger ORPHA:1471
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Narrow chest, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Hypoplastic iliac wing, Carpal bone hypoplasia, Short neck, Blep... OMIM:611717
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, Flat acetabular roof, ... ORPHA:163649
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Atrial sep... OMIM:620662
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... OMIM:611263
Acromegaloid Facial Appearance Syndrome
Highly arched eyebrow, Thick nasal alae, Short 5th metacarpal, Telecanthus, Bulbous nose, Microgn... OMIM:102150
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Wide nasal bridge, Abnormal vertebral morphology, Clinodactyly, ... ORPHA:166024
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Cleft lip, Hama... OMIM:616300
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Abnormality o... ORPHA:2319
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... OMIM:143095
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, Cleft lip, Hama... OMIM:617925
Pde4D Haploinsufficiency Syndrome
Micrognathia, Cryptorchidism, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Narrow pa... ORPHA:439822
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Cutis marmorata, Radioulnar synostosis, Vertebral cle... OMIM:614701
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Bowing of the long bones, Short neck, Chordee,... OMIM:166250
Ruvalcaba Syndrome
Small hand, Synostosis of carpal bones, Cryptorchidism, Short metacarpal, Short nose, Abnormality... ORPHA:3121
Eng-Strom Syndrome
Camptodactyly of finger, Brachydactyly, Arthritis, Pectus excavatum, Scoliosis ORPHA:1937
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent upper respiratory tract infections, Short tibia, Sandal gap, Wide nose, But... OMIM:607143
Acrodysostosis 2 With Or Without Hormone Resistance
Hypospadias, Depressed nasal bridge, Cone-shaped epiphysis, Mandibular prognathia, Anteverted nar... OMIM:614613
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, Hypertelorism, Dislocated radial head, High p... OMIM:612350
Alagille Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Deeply set eye, Atrial septal defect, Hy... ORPHA:52
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Short p... ORPHA:217340
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Cataract 35
Cataract OMIM:609376
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 36
Cataract OMIM:613887
Stuve-Wiedemann Syndrome 1
Wide nasal base, Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal ra... OMIM:601559
Autosomal Recessive Spondylocostal Dysostosis
Depressed nasal bridge, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Abno... ORPHA:2311
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Shox-Related Short Stature
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Cubi... ORPHA:314795
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Pectus exca... ORPHA:156728
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Reduced arm span, Arthralgia... ORPHA:166002
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cup... OMIM:300863
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Mueller-Weiss Syndrome
Tibiofibular diastasis, Equinovarus deformity, Tibial torsion, Abnormality of the os naviculare p... ORPHA:566943
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Reduced bone mineral density, Brachydactyly, Short femoral neck, Kyphosis, Dela... OMIM:618392
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Robinow Syndrome
Low-set ears, Small scrotum, Tooth malposition, Flared nostrils, Ankyloglossia, Marked delay in e... ORPHA:97360
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,... OMIM:249710
Coats Disease
Cataract, Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Abnormal retinal vascular ... ORPHA:190
Tibial Torsion, Bilateral Medial
Bowing of the legs, Scoliosis, Tibial torsion OMIM:188800
W Syndrome
Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Clinodactyly, Radial bowing,... ORPHA:2804
Hhhh Syndrome
Hemiatrophy OMIM:306960
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Low-set ears, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of verteb... ORPHA:457395
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Autosomal Recessive Multiple Pterygium Syndrome
Low-set ears, Small scrotum, Limitation of joint mobility, Finger syndactyly, Hearing impairment,... ORPHA:2990
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Thoracic hypoplasia, Irregular epiphyses, Posterior... OMIM:608728
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe... OMIM:602080
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Micrognathia, Easily subluxated first metacarpophalangeal joints,... OMIM:311895
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Death ... ORPHA:1354
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Reduced bo... ORPHA:2501
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Depressed nasal bridge, Osteopenia, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ... OMIM:616809
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micr... OMIM:614524
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Depressed nasal bridge, Metaphyseal cupping, Narrow chest, Platys... OMIM:618853
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Bell-shaped thorax, Death in childhood, Short neck, Flat acetabu... OMIM:613320
Achondroplasia
Flat acetabular roof, Thoracic hypoplasia, Cervical spinal canal stenosis, Limited elbow extensio... ORPHA:15
Atelosteogenesis, Type Iii
Depressed nasal bridge, Rhizomelia, Tombstone-shaped proximal phalanges, Hypoplasia of the maxill... OMIM:108721
8P23.1 Microdeletion Syndrome
Low-set ears, Broad thumb, Micrognathia, Cryptorchidism, Deeply set eye, Short neck, High palate,... ORPHA:251071
Fetal Trimethadione Syndrome
Low-set ears, Hypospadias, Abnormal helix morphology, Depressed nasal bridge, Tetralogy of Fallot... ORPHA:1913
Meier-Gorlin Syndrome 6
Patellar aplasia, Cryptorchidism, Hypoplastic labia majora, Short nose, Depressed nasal ridge, De... OMIM:616835
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Bilateral clef... OMIM:601357
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Wide nasal bridge, Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnorm... ORPHA:93267
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the el... ORPHA:2619
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Short neck, Abnormal metacarpal morphology, High palate, Abnormal morphology of ulna ORPHA:2233
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Choanal atresia, Pyloric stenosis, Conical tooth, Short thumb, Supern... OMIM:263750
Orofaciodigital Syndrome Xviii
Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial poly... OMIM:617927
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Cryptorchidism, Short neck, Everted lower lip vermilion, Hypertelo... ORPHA:915
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Sandestig-Stefanova Syndrome
Low-set ears, Wide nasal bridge, Clinodactyly, Retrognathia, Muscular ventricular septal defect, ... OMIM:618804
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, Advan... OMIM:618363
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Abnormal mitral valve morphology... ORPHA:192
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met... OMIM:200600
Chromosome 9P Deletion Syndrome
Low-set ears, Dermatoglyphic variants, Micrognathia, Narrow mouth, Ventricular septal defect, Sho... OMIM:158170
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Short foot, Cleft palate OMIM:300261
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Micromelia, Flared metaphysi... OMIM:215045
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Dental crowding, Underdeve... OMIM:190351
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec... OMIM:271665
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Lobulated tongue, M... OMIM:258860
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat... OMIM:300232
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Pectus carinatum, Osteopenia, Short iliac bones, Flattened proximal radial epiphys... OMIM:271530
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Abnormality of the ve... OMIM:250460
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe... OMIM:300373
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Limited knee flexion/extensio... OMIM:258315
Catel-Manzke Syndrome
Narrow naris, Ulnar deviation of the 2nd finger, Genu valgum, Micrognathia, Narrow mouth, Talipes... OMIM:616145
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Thumbs hypoplastic with bulbous tips, Type A2 brachydactyly, Absent ... OMIM:211369
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morphology, Short neck, Aplasia/... ORPHA:163654
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Genu valgum, Micrognathia, Anterior concavity of thoraci... OMIM:309350
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Osseous Heteroplasia, Progressive
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue OMIM:166350
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Orofaciodigital Syndrome Ix
Bifid nasal tip, Abnormality of the dentition, Toe syndactyly, Broad nasal tip, Short tibia, Medi... OMIM:258865
Catel-Manzke Syndrome
Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de... ORPHA:1388
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Micrognathia, Lacrimation abnormality, Choanal atresia, Ulnar deviation... ORPHA:949
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Barrel-shaped chest, Short humer... OMIM:239000
Leri Pleonosteosis
Genu recurvatum, Broad thumb, Abnormal epiphysis morphology, Elbow dislocation, Abnormal form of ... ORPHA:2900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... OMIM:208500
Paternal Uniparental Disomy Of Chromosome X
Decreased testicular size, Cubitus valgus, Short neck, Micropenis, Infertility, Shield chest, Sho... ORPHA:261524
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Depressed nasal bridge, Osteopenia, Abnormality of the dentition, Do... OMIM:615398
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal OMIM:112410
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Abnormal nasophary... OMIM:607323
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short finger, Irreg... OMIM:222600
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Talipes, Clinodactyly o... ORPHA:376
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, S... ORPHA:168555
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly OMIM:233270
Chst3-Related Skeletal Dysplasia
Rhizomelia, Delayed eruption of teeth, Abnormal form of the vertebral bodies, Long philtrum, Irre... ORPHA:263463
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Irregular vertebral endp... OMIM:612847
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Joint stiffness, Abnormal metacarpal morphology, Abnormal thumb morphology, Type A brachydactyly ORPHA:1078
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Otopalatodigital Syndrome Type 1
Wide nasal bridge, Short distal phalanx of finger, Depressed nasal bridge, Synostosis of carpal b... ORPHA:90650
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Depressed nasal bridge, Hip osteoarthritis, Broad hallux, Short thumb, Premature osteoarthritis, ... OMIM:165800
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Dysplastic patella, Patellar aplasia, Cryptorchidism, Congen... OMIM:265000
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Aplasia of t... ORPHA:93357
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... OMIM:612813
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death... OMIM:314390
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle, Short thumb, E... ORPHA:968
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Hip contracture, Talipes equinovarus, Short neck, High palate, Cleft l... OMIM:619110
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Kniest Dysplasia
Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra... OMIM:156550
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Otoonychoperoneal Syndrome
Ankle flexion contracture, Hip contracture, Knee flexion contracture, Straight clavicles, Aplasia... OMIM:259780
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Cataract, V... OMIM:143200
Retinitis Pigmentosa 84
Cataract, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone... OMIM:618220
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Short thorax, Abnormal morphology of female internal genitalia, Anteverted nar... ORPHA:1797
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh... OMIM:602557
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Narrow chest, Abnormality of the dentition, Finger sy... ORPHA:1515
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Platyspondyly, ... ORPHA:163966
Cranioectodermal Dysplasia 1
Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa... OMIM:218330
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Abnormality of the wrist, Nar... ORPHA:2511
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... OMIM:101800
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Atresia of the external auditory canal, ... OMIM:146510
Codas Syndrome
Crumpled ear, Sensorineural hearing impairment, Ventricular septal defect, Short metacarpal, Shor... ORPHA:1458
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Micrognathia, So... OMIM:602418
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia of the thumb, Elbow ankylosi... ORPHA:3266
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Long philtrum, Short nose, Ant... ORPHA:93329
Martsolf Syndrome 1
Low-set ears, Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Broad fingert... OMIM:212720
Boomerang Dysplasia
Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Fibular aplasia, Neonatal... OMIM:112310
Brachydactyly-Preaxial Hallux Varus Syndrome
Wide nasal bridge, Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Abnorm... ORPHA:1278
Steinfeld Syndrome
Abnormal vertebral morphology, Bifid uvula, Abnormality of the vertebral column, Median cleft pal... OMIM:184705
Craniofrontonasal Dysplasia
Finger syndactyly, Sprengel anomaly, High palate, Depressed nasal ridge, Orofacial cleft, Brachyd... ORPHA:1520
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck, Short foot, Hypoplast... OMIM:607095
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Low-set ears, Angel-shaped phalanx, Carious teeth, Flat acetabular roof, Cone-shaped epiphyses of... OMIM:617102
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Abnormality of the knee, Pr... ORPHA:99642
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Phocomelia, Schinzel Type
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... ORPHA:2879
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Recurrent otitis media, Overlapping toe, Micrognathia, Talipes equinovarus, Short n... OMIM:213980
Brachydactyly Type C
Ulnar deviation of finger, Cone-shaped epiphysis, Stippling of the epiphysis of the distal phalan... ORPHA:93384
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Clinodactyly of the 2nd finger, Genu valgum, Prominent nasal tip, Pes planus, Finger joint hyperm... OMIM:618870
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar... OMIM:187601
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle... ORPHA:163665
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Pectus carinatum, Short toe, Do... ORPHA:1327
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Lens subluxation, Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degen... OMIM:614292
Ververi-Brady Syndrome
Low-set ears, Metaphyseal irregularity, Broad nasal tip, Cupped ear, Delayed skeletal maturation,... OMIM:617982
Restrictive Dermopathy 1
Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Sparse eyelashes, Absen... OMIM:275210
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly,... ORPHA:2167
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Wiedemann-Steiner Syndrome
Small hand, Long hallux, Contracture of the distal interphalangeal joint of the fingers, Microgna... OMIM:605130
Keipert Syndrome
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Downturned corners of mo... OMIM:301026
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Abnormal vertebral morphology, Low-set ears, Erythema, Carpal synost... OMIM:218600
Blepharonasofacial Malformation Syndrome
Wide nasal bridge, Sparse lateral eyebrow, Finger syndactyly, Underdeveloped nasal alae, Telecant... ORPHA:1252
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Hall-Riggs Syndrome
Wide nasal bridge, Platyspondyly, Abnormal epiphysis morphology, Delayed eruption of teeth, Downt... ORPHA:2107
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, H... OMIM:311300
Roifman Syndrome
Prominent eyelashes, Short toe, Biconvex vertebral bodies, Downslanted palpebral fissures, Underd... OMIM:616651
C Syndrome
Clitoral hypertrophy, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Cry... OMIM:211750
Craniodiaphyseal Dysplasia
Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Diaphyseal undertubulation,... ORPHA:1513
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Retinitis Pigmentosa 9
Cataract, Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atr... OMIM:180104
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Hearing impairment, Cleft soft palate, Micrognathia, Cryptorchidism, S... OMIM:616331
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Cryptorchidism, Arachnodactyly, ... ORPHA:280
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru... OMIM:134780
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il... ORPHA:1858
Desbuquois Syndrome
Genu recurvatum, Depressed nasal bridge, Small hand, Patellar dislocation, Elbow dislocation, Cam... ORPHA:1425
Emery-Nelson Syndrome
Depressed nasal bridge, Long philtrum, Camptodactyly of finger, Interphalangeal thumb joint contr... ORPHA:1927
Verheij Syndrome
Branchial cyst, Clinodactyly, Ventricular septal defect, Short neck, Hip dislocation, Short nose,... OMIM:615583
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Orofaciodigital Syndrome X
Finger aplasia, Depressed nasal bridge, Retrognathia, Preaxial hand polydactyly, Fibular aplasia,... OMIM:165590
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Carious teeth, Cryptorchidism, Arachnodactyly, Epican... ORPHA:377
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the ulna, Hypoplasia of t... ORPHA:246
Arthrogryposis, Distal, Type 3
Overlapping toe, Micrognathia, Cutaneous finger syndactyly, Cryptorchidism, Talipes equinovarus, ... OMIM:114300
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Unossified sacrum, Micromelia, Absent vertebral body mineralizati... ORPHA:93296
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Decreased response to growth hormone stimu... ORPHA:502430
Arthrogryposis, Distal, Type 2B2
Hip dislocation, Sandal gap, Broad hallux, Short toe, Clinodactyly, Talipes equinovalgus, Overlap... OMIM:618435
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia... ORPHA:2496
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Hypoplasia of the maxilla, Narrow nasal brid... ORPHA:1798
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Kbg Syndrome
Bilateral conductive hearing impairment, Cryptorchidism, Short neck, Hypertelorism, Widely-spaced... ORPHA:2332
Achondrogenesis Type 1A
Narrow chest, Micromelia, Short thorax, Abnormal enchondral ossification, Long philtrum, Antevert... ORPHA:93299
Kbg Syndrome
Ulnar deviation of the 2nd finger, Cryptorchidism, Short neck, Epispadias, Vertebral arch anomaly... OMIM:148050
Rubinstein-Taybi Syndrome 1
Low-set ears, Broad thumb, Hearing impairment, Delayed cranial suture closure, Hypoplastic iliac ... OMIM:180849
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Reduced subcutaneous adipose ... OMIM:264090
Frank-Ter Haar Syndrome
Genu recurvatum, Wide nasal bridge, Depressed nasal bridge, Delayed eruption of teeth, Camptodact... ORPHA:137834
Aminopterin Syndrome Sine Aminopterin
Low-set ears, Joint contracture of the hand, Clinodactyly, Micrognathia, Cryptorchidism, Arachnod... OMIM:600325
Pierpont Syndrome
Broad foot, Short neck, Everted lower lip vermilion, Prominent subcalcaneal fat pad, Short foot, ... OMIM:602342
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Thick anterior alveol... ORPHA:2839
Rhizomelic Chondrodysplasia Punctata
Abnormality of the dentition, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobi... ORPHA:177
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Moebius Syndrome
Hand clenching, Clinodactyly, Congenital fibrosis of extraocular muscles, Micrognathia, Lower lim... OMIM:157900
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Depressed nasal bridge, Plagiocephaly, Clinodactyly, Frontal bossing, Bulbous nose,... OMIM:616789
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Hearing impairment, Open bite, Genu valgum, Micrognathia, De... ORPHA:1452
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Delayed eruption of teeth, Obesity, Pseudohypoparathyroidism, Short neck,... OMIM:612463
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Clinodactyly, Cryptorchidism, Protruding tongue, Sensorineural hearing impairment, ... OMIM:301040
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormal epiphysis morphology, Micromelia, Osteoarthritis, Short thorax ORPHA:93283
Cutis Laxa, Autosomal Recessive, Type Iid
Wide nasal bridge, Retrognathia, Failure to thrive, Downslanted palpebral fissures, Bilateral cry... OMIM:617403
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Depressed nasal bridge, Platyspondyly, Premature osteoarthritis, Anteverted... OMIM:184840
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os... ORPHA:1423
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Epicanthus, Short neck, Radial head subluxation, Advanced ossi... OMIM:615777
Achondrogenesis Type 1B
Narrow chest, Micromelia, Abnormal rib morphology, Abnormal enchondral ossification, Long philtru... ORPHA:93298
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Short palpebral fissure, Broad thumb, Limitation of joint mobility, Short thumb,... OMIM:151200
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Slender build, Intervertebral disk degeneration, Epic... ORPHA:3168
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Talipes, Aplasia/Hypoplasia of t... ORPHA:2378
Nicolaides-Baraitser Syndrome
Cryptorchidism, Hernia, Abnormal metacarpal morphology, Blepharophimosis, Abnormal finger morphol... ORPHA:3051
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Abnorma... ORPHA:411527
Opsismodysplasia
Depressed nasal bridge, Narrow chest, Broad thumb, Abnormal epiphysis morphology, Abnormally ossi... ORPHA:2746
Acrootoocular Syndrome