Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
even-skipped homeobox 2
Synonyms:
Evx-2

IMPC Data Collections

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

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Evx2 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Evx2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Sugarman Brachydactyly
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... OMIM:272150
Dystelephalangy
Curved distal phalanx of the 5th finger OMIM:128000
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... OMIM:112700
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Short proximal phalanx of finger, Clinodactyly of the 5th fing... OMIM:616849
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Radial Hemimelia
Abnormal thumb morphology, Deviation of the hand or of fingers of the hand, Abnormality of the sc... ORPHA:93321
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... OMIM:606835
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Brachydactyly, Type A1
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... OMIM:112500
Broad Terminal Phalanges, Familial
Broad distal phalanx of finger, Broad distal phalanx of the toes OMIM:602071
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Long-Thumb Brachydactyly Syndrome
Brachydactyly, Short finger, Long thumb OMIM:112430
Brachydactyly Type A2
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Short middle ph... ORPHA:1453
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Broad middle phalanx of finger, Delayed ossification of carpal bones, Clinodactyly of the 5th fin... OMIM:182255
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Mesomelia, S... OMIM:611263
Brachydactyly, Type A1, B
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... OMIM:607004
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Type A brachydactyly, Short middle phalanx of the 5th fin... OMIM:112800
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Mesomelia, Tarsal synostosis OMIM:156232
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Shortening of all middle pha... OMIM:600593
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb OMIM:176305
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Thiemann Disease, Familial Form
Brachydactyly, Abnormality of the metaphysis, Abnormality of epiphysis morphology ORPHA:3314
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Aplasia of metacarpal bon... ORPHA:93320
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Heart-Hand Syndrome, Spanish Type
Brachydactyly, Ulnar deviation of the 2nd finger, Short middle phalanx of finger OMIM:140450
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis o... ORPHA:50809
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short metacarpal, Short phalanx of finger ORPHA:1276
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synov... OMIM:609655
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Radioulnar synostosis, Limited elbow extension, Dislocated radial head OMIM:179300
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Premature osteoarthritis, Delayed ossification of ... OMIM:607078
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Absen... OMIM:120400
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Brachydactyly, Combined B And E Types
Brachydactyly, Short 5th metacarpal, Short 4th metacarpal, Short 5th finger, Short thumb, Broad d... OMIM:112440
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Elbow flexion contracture, Absent proximal radial epiphyses, Forearm unde... OMIM:249600
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Me... OMIM:602111
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous... OMIM:211369
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology ORPHA:1078
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Short long bone, Metaphyseal wid... OMIM:611702
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Short thumb, Short distal phalanx of finger, Hitchhiker thumb, Sh... OMIM:112450
Ophthalmomandibulomelic Dysplasia
Coxa valga, Radioulnar dislocation, Fibular hypoplasia, Elbow dislocation, Ulnar deviated club ha... OMIM:164900
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Heyn-Sproul-Jackson Syndrome
Decreased body weight, Short metacarpal, 11 pairs of ribs, Short phalanx of finger, Broad metacar... OMIM:618724
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Cleidorhizomelic Syndrome
Rhizomelia, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger OMIM:119650
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Banki Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carp... ORPHA:1228
Brachydactyly Type C
Symphalangism affecting the phalanges of the hand, Metatarsus valgus, Pseudoepiphysis of the 2nd ... ORPHA:93384
Polydactyly, Postaxial, Type A6
Broad phalanges of the 5th finger, Postaxial hand polydactyly OMIM:615226
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Shallow acetabular fossae, Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar syn... OMIM:605432
Acromesomelic Dysplasia 2A
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... OMIM:200700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing OMIM:617993
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Short metacarpal, Sho... ORPHA:968
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Ectrodac... ORPHA:2878
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Bowing of the arm, Mesomelic leg shortening, Micrognathia, Mesomelic arm shor... OMIM:249710
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Camptodactyly of finger, Short distal phalanx of finger, Broad thumb ORPHA:1471
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Abnormality of ulnar metaphysis, Abnormality o... ORPHA:1040
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow dislocation, Metatarsus adductus, Microme... ORPHA:2249
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Gombo Syndrome
Brachydactyly, Clinodactyly, Radial deviation of finger OMIM:233270
Multiple Epiphyseal Dysplasia Type 4
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... ORPHA:93307
Ring Chromosome 4 Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius, Abnormality of the upper limb ORPHA:1447
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Short palm, Cone-shaped epiphys... ORPHA:3237
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Dyschondrosteosis-Nephritis Syndrome
Madelung deformity, Micromelia, Ulnar bowing, Radial bowing, Aplasia/Hypoplasia of the radius ORPHA:1765
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Epiphyseal Dysplasia, Multiple, 3
Irregular epiphyses, Short metacarpal, Osteoarthritis, Limited knee extension, Abnormal hip joint... OMIM:600969
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Single transverse palmar crease, Fibular hypoplasia, Short 5th finger, Hy... OMIM:227270
Brachymesomelia-Renal Syndrome
Single transverse palmar crease, Fibular hypoplasia, Hypoplasia of the radius, Micrognathia, Ulna... OMIM:113470
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... OMIM:601438
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Banki Syndrome
Clinodactyly, Radial deviation of finger OMIM:109300
Brachydactyly Type A4
Shortening of all middle phalanges of the toes, Symphalangism affecting the phalanges of the hand... ORPHA:93394
Brachydactyly Type E
Upper limb asymmetry, Type E brachydactyly, Short metacarpal, Aplasia/Hypoplasia of the distal ph... ORPHA:93387
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Aplasia/Hypoplasia of the thumb, Sh... ORPHA:1350
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Tarsal-Carpal Coalition Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Progressive fusion 2nd-5th pip joints, Distal sym... OMIM:186570
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Pseudopseudohypoparathyroidism
Brachydactyly, Short 5th metacarpal, Short distal phalanx of the thumb, Short 4th metacarpal, Sho... ORPHA:79445
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Abnormality of femoral epiphysis, Irregular carpal bones, Incr... ORPHA:750
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Hip osteoarthritis, Sho... OMIM:132400
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Radial head subluxation, Short metacarpal, Metacarpophalangeal synostosis, Tar... OMIM:186400
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... OMIM:228900
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Atelosteogenesis, Type Iii
Hitchhiker thumb, Widened distal phalanges, Sandal gap, Rhizomelia, Tibial bowing, Elbow dislocat... OMIM:108721
Angel-Shaped Phalangoepiphyseal Dysplasia
Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossification of carpal bone... OMIM:105835
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Hypoplasia of the capital ... OMIM:617719
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Upper limb undergrowth, Hypoplasia of the radius, Short humerus, Hypertro... ORPHA:75508
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Short palm, Short metacarpal, Upper limb undergrowth, Broad palm, Broad femor... OMIM:271650
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Genu varum, Delayed ossification of carpal bones, Metaphyseal dysplasia OMIM:617974
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Sandal gap, Overlapping fingers, Tapered finger, Broad hallux, Metat... OMIM:618435
Metaphyseal Dysplasia, Spahr Type
Metaphyseal sclerosis, Progressive leg bowing, Metaphyseal chondrodysplasia, Metaphyseal dysplasi... OMIM:250400
Acromicric Dysplasia
Short palm, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Fifth metacarpal wi... OMIM:102370
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Symphalangism With Multiple Anomalies Of Hands And Feet
Reduced proximal interphalangeal joint space, Small thenar eminence, Small hypothenar eminence, T... OMIM:185750
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... OMIM:601376
Hhhh Syndrome
Hemiatrophy OMIM:306960
Blount Disease, Adolescent
Genu varum, Bowing of the legs OMIM:259200
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Infertility, Cubitus valgus ORPHA:261524
Brachydactyly-Distal Symphalangism Syndrome
Single transverse palmar crease, Type A1 brachydactyly, Aplasia of the middle phalanx of the hand... OMIM:113450
Exostoses, Multiple, Type Ii
Short metacarpal, Protuberances at ends of long bones, Pelvic bone exostoses, Genu valgum, Madelu... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Protuberances at ends of long bones, Pelvic bone exostoses, Genu valgum, Madelu... OMIM:133700
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Syndactyly Type 3
Camptodactyly of finger, Finger syndactyly, Short toe ORPHA:93404
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachydactyly, Short metacarpal, Short metatarsal OMIM:113400
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Enlarged joints, Delayed proximal femoral e... OMIM:250230
Tetrasomy X
Brachydactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia ORPHA:9
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Squared iliac bones, Abnormal... ORPHA:93314
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Micrognathia, Preaxial hand polydactyly, Broad... ORPHA:1278
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Single transverse palmar cr... ORPHA:370010
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Missing ribs, Single transverse palmar crease, 2-3 toe syndact... OMIM:617866
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalan... OMIM:142900
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Rhizomelia, Cervical subluxation, Flared met... OMIM:607095
Symphalangism, Distal
Brachydactyly, Craniosynostosis, Distal symphalangism of hands, Absent dorsal skin creases over a... OMIM:185700
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... ORPHA:79106
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Decreased body weight, Short metacarpal, Broad fem... OMIM:615222
Brachydactyly, Type E2
Brachydactyly, Short metacarpal, Short metatarsal OMIM:613382
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Acromesomelic Dysplasia 1
Acromesomelia, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metata... OMIM:602875
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Genu varum, Fragmentation of the metacarpal epiphyses, Abnormality of epiphysis morphology, Radia... ORPHA:166002
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short femoral neck, Dislocated radial head, Tap... OMIM:618395
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short metacarpal, Abnormal metacarpal morphology, Short thumb, Duplication of the distal phalanx ... ORPHA:973
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Mesomelia, Micrognathia, Syndactyly OMIM:228940
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Acromesomelic Dysplasia 4
Genu varum, Broad toe, Prominent deltoid tuberosities, Metaphyseal irregularity, Broad phalanx, S... OMIM:619636
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Peripheral Dysostosis
Brachydactyly, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand ORPHA:1795
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Upper limb asymmetry, Aplasia/Hypoplasia of the thumb, Radioulnar syno... ORPHA:3266
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezoid bone, Short phalanx o... OMIM:606895
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Short 5th metacarpal, ... OMIM:185800
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal phalanx of finger, Eas... OMIM:311895
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... OMIM:177170
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Short phalanx of finger, Delayed ossification of carpa... OMIM:127200
Syndactyly, Type Iv
6 metacarpals, 2-3 toe syndactyly, Triphalangeal thumb, Supernumerary metacarpal bones, Polydacty... OMIM:186200
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Craniosynostosis, Cone-shaped metacarpal epiphyses, Coxa valga, Short ... OMIM:250215
Ruvalcaba Syndrome
Short palm, Short metacarpal, Short phalanx of finger, Micromelia, Limited elbow extension, Small... OMIM:180870
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Short metatarsal OMIM:113301
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Decreased body weight, Delayed ossification of carpal bones, Small for gestational... OMIM:618392
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Brachydactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, Short finger, Short toe OMIM:604381
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Distally placed thumb, Hypoplasia of the radius, Short thumb OMIM:179270
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion,... OMIM:610017
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology ORPHA:228190
Chromosome 15Q13.3 Deletion Syndrome
Brachydactyly, Clinodactyly of the 5th finger OMIM:612001
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short tibia, Short femur, Aplasia/Hypop... OMIM:612447
2q37 monosomy
Brachydactyly DECIPHER:44
Cooks Syndrome
Brachydactyly, Triphalangeal thumb, Split hand, Broad thumb ORPHA:1487
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Wormian bones, Shortening of all phalanges of fingers, Limb underg... OMIM:601356
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Elbow dislocation, Metatarsus adductus, Cubitus valgus, Cam... ORPHA:2804
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... OMIM:619135
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... OMIM:609052
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb ORPHA:435804
Robin Sequence-Oligodactyly Syndrome
Abnormality of the ulna, Hand oligodactyly, Clinodactyly of the 5th finger, Micrognathia, Abnorma... ORPHA:3104
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb ORPHA:2489
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly OMIM:174200
Kyphomelic Dysplasia
Pterygium, Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Micromelia, Ul... OMIM:211350
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Brachydactyly, Pseudoepiphyses of the metacarpals, Distal symphalangism, Clinodactyly of the 5th ... OMIM:210720
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis, Forearm re... OMIM:614900
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Metatarsus adductus, Cubitus valgus, Camptodactyly, Radial ... OMIM:311450
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Abnormality of fibula morphology, Tibial bowing, Micrognathia, Lower li... ORPHA:3035
Prenatal Bowing
Bowing of the long bones OMIM:264050
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Emery-Nelson Syndrome
Brachydactyly, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Contractures of ... ORPHA:1927
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Coronal craniosynostosis, Short metacarpal, Micrognathia, Patellar dislocation, Sh... OMIM:614078
Acromicric Dysplasia
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Fifth metacarpa... ORPHA:969
Summitt Syndrome
Brachydactyly, Craniosynostosis, Finger syndactyly, Short palm, Short 4th metacarpal, Clinodactyl... ORPHA:3210
Winchester Syndrome
Carpal osteolysis, Broad metacarpals, Osteolysis involving tarsal bones, Arthropathy OMIM:277950
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Obesity, Micrognathia, Micromelia, Limb undergrowth OMIM:269870
Van Den Ende-Gupta Syndrome
Craniosynostosis, Elbow flexion contracture, Dislocated radial head, Slender metacarpals, Distal ... OMIM:600920
Hirschsprung Disease-Type D Brachydactyly Syndrome
Brachydactyly, Short distal phalanx of the thumb, Short phalanx of hallux ORPHA:2150
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Radial bowing, ... OMIM:601027
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... ORPHA:2831
Camptomelic Syndrome, Long-Limb Type
Micromelia, Bowing of the long bones OMIM:211990
Wt Limb-Blood Syndrome
Absent thumb, Clinodactyly of the 5th finger, Short phalanx of finger, Short thumb, Joint contrac... OMIM:194350
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Short middle phalanx of finger ORPHA:391646
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... OMIM:617102
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Clinodactyly of the 5th finger, Absent ... OMIM:610797
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Distal Symphalangism
Synostosis of carpal bones, Camptodactyly of finger, Symphalangism affecting the phalanges of the... ORPHA:3248
Nasodigitoacoustic syndrome
Enlarged epiphyses, Short phalanx of finger, Broad hallux, Broad distal phalanx of finger, Rounde... OMIM:255980
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Flared metaphysis, Short middle phalanx of the 2nd finger, Metaphyseal dysp... OMIM:156510
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Broad hallux,... OMIM:304120
Laron Syndrome
Delayed menarche, Abnormal joint morphology, Limb undergrowth, Short long bone OMIM:262500
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short palm, Short metacarpal, Short phalanx of fi... OMIM:151200
Rhyns Syndrome
Brachydactyly, Radial bowing, Short femoral neck OMIM:602152
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Brachydactyly, Short ... OMIM:186500
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Clinodactyly of the 5th finger, Abnormality of fibula morphol... ORPHA:2557
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Mesomelia, Micrognathia, Abnormal shoulder morphology ORPHA:1277
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Short finger, Short toe OMIM:191482
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Brachydactylous Dwarfism, Mseleni Type
Joint subluxation, Hip osteoarthritis, Brachytelomesophalangy, Knee osteoarthritis, Abnormality o... ORPHA:2619
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Genu varum, Abnormal carpal morphology, Short palm, Hypoplastic scapula... ORPHA:85166
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Metacarpal synostosis, Syndactyly OMIM:263450
Bardet-Biedl Syndrome 5
Brachydactyly, Syndactyly, Polydactyly OMIM:615983
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... ORPHA:1836
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis OMIM:218650
Metachondromatosis
Bowing of the long bones, Abnormal joint morphology OMIM:156250
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis ORPHA:35099
Odontochondrodysplasia 1
Brachydactyly, Genu varum, Irregular epiphyses, Delayed ossification of carpal bones, Flared ilia... OMIM:184260
Eng-Strom Syndrome
Brachydactyly, Camptodactyly of finger, Arthritis ORPHA:1937
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metacarpal synostosis, Metatar... OMIM:608180
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Ap... ORPHA:1113
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger, Wormian bones ORPHA:2787
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Micrognathia ORPHA:357175
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Hypoplastic sacrum, Short femoral neck, Cone-shaped epiphyses of the phalange... OMIM:304950
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Brachydactyly, Type E1
Brachydactyly, Type E brachydactyly, Short metacarpal, Short clavicles, Short metatarsal OMIM:113300
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Upper limb asymmetry, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Brachydactyly, Coxa valga, Short phalanx of finger, Genu valgum, Epiphyseal dysplasia OMIM:132450
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Short femoral neck, Slender build, Small for gestationa... OMIM:608154
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Obesity, Short metacarpal OMIM:603233
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Short phalanx of finger, Long fingers, Proximal placement of thumb, Short toe, Ca... OMIM:613458
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Atelosteogenesis, Type I
Vertebral hypoplasia, 11 pairs of ribs, Micrognathia, Brachydactyly, Short metatarsal, Short hume... OMIM:108720
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... OMIM:608940
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Short palm,... OMIM:190351
Shox-Related Short Stature
Ulnar radial head dislocation, Tibial bowing, Madelung deformity, Micrognathia, Lower limb underg... ORPHA:314795
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Type B brachydactyly, Split hand, Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of... OMIM:106990
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Elbo... ORPHA:2631
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Azoospermia, Obesity, Cubitus valgus, Hypergonadotropic hypogonadism ORPHA:2183
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... ORPHA:950
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Micrognathia OMIM:615162
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Bowed forearm bones, Absent radius, Forearm undergrowth OMIM:602200
Marshall Syndrome
Small proximal tibial epiphyses, Irregular distal femoral epiphysis, Coxa valga, Irregular proxim... OMIM:154780
Camptobrachydactyly
Brachydactyly, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulnar deviatio... ORPHA:1319
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Rocker bottom foot, Ulnar bowing, Arachnod... OMIM:207410
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Radioulnar disloca... ORPHA:2741
Camptobrachydactyly
Brachydactyly, Hand polydactyly, Short toe, Congenital finger flexion contractures, Syndactyly OMIM:114150
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Tarsal osteovalgus, Adducted thumb, Finger clinodactyly, Camptodactyly OMIM:614257
Weyers Ulnar Ray/Oligodactyly Syndrome
Absent thumb, Hand oligodactyly, Hypoplasia of the radius, Micrognathia, Proximal radial head dis... OMIM:602418
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ulna, Abnormalit... ORPHA:2491
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Weyers Acrofacial Dysostosis
Brachydactyly, Short palm, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial ... OMIM:193530
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Radioulnar synostosis, Tarsal s... OMIM:605282
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Hip dislocation, Syno... OMIM:311300
Brachydactyly, Mononen Type
Aplasia of the distal phalanx of the 2nd finger, Proximal fibular overgrowth, Coalescence of tars... OMIM:301940
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Oligodacty... ORPHA:3258
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of the radius, Micrognathia, Camptodactyly ... ORPHA:246
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Premature ovarian insufficiency, Abnormality of pelvic girdle bone morphology, Tru... ORPHA:2928
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... OMIM:609616
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Large joint dislocations, Delayed patellar ossification, Long distal phalanx of finger, Genu valg... OMIM:603546
Phocomelia, Schinzel Type
Bowing of the long bones, Hand oligodactyly, Aplasia/Hypoplasia involving the pelvis, Hypoplasia ... ORPHA:2879
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormality of epiphysis morphology, Short middle phalanx of finger, Short 1s... ORPHA:63442
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Bilateral single... ORPHA:2633
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Flat capital femoral epiphysis, Genu varum, Slender finger, Metaphyseal irregularity, Premature o... ORPHA:93360
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Short femoral neck, Rhizomelia, Limi... OMIM:100800
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Bowing of the legs, Enlarged joints, Limb undergrowth ORPHA:156728
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Short palm, Coxa vara ORPHA:168555
Pseudopseudohypoparathyroidism
Brachydactyly, Obesity, Short metacarpal, Short metatarsal OMIM:612463
Satoyoshi Syndrome
Brachydactyly, Amenorrhea, Short metacarpal, Osteolytic defects of the phalanges of the hand, Gen... OMIM:600705
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Fibular duplication, Short fo... OMIM:135750
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Short metacarpal, Hypoplastic acetabul... OMIM:607326
Acrorenal Syndrome
Abnormality of the ulna, Micrognathia, Abnormality of tibia morphology, Split hand, Aplasia/Hypop... ORPHA:971
Spondylometaphyseal Dysplasia, Pagnamenta Type
Wormian bones, Short 5th metacarpal, Rhizomelia, Short 4th metacarpal, Broad thumb, Femoral bowing OMIM:619638
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, Joi... ORPHA:3201
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... OMIM:617927
Atelosteogenesis Type Ii
Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviation of the hand or o... ORPHA:56304
Craniosynostosis 3
Brachydactyly, Single transverse palmar crease, Right unicoronal synostosis, Left unicoronal syno... OMIM:615314
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
20Q11.2 Microdeletion Syndrome
Brachydactyly, Adducted thumb, Camptodactyly, Finger clinodactyly ORPHA:444051
Mal De Meleda
Brachydactyly, Congenital symmetrical palmoplantar keratosis OMIM:248300
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Obesity, Short m... OMIM:614613
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Abnormal pelvis bone morphology, Enlarged joints, Short metacarpal, Sandal gap, Fl... ORPHA:1427
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Enlargement of the proximal femoral epiphysis, Broad middle phalanx of finger, Metaph... OMIM:156500
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short long bone, Premature osteoarthritis, Short palm, Enlarged joints, Short metacarpal, Large t... OMIM:215150
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Microcephalic Primordial Dwarfism, Dauber Type
Primary amenorrhea, Clinodactyly of the 5th finger, Obesity, Madelung deformity, Limb undergrowth... ORPHA:319675
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Enlarged joints, Short metacarpal, Rhizomelia, Small epiphyse... ORPHA:263463
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Deviation of the 5th finger, Genu valgum, Brachydactyly, Short phalanx of f... OMIM:143095
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Micrognathia, Micromelia, Limb undergrowth, Short long bone ORPHA:1423
Saul-Wilson Syndrome
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Micrognathia, F... OMIM:618150
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flattened epiphysis, Short femoral neck, Dislocated radial head, ... OMIM:612350
Nievergelt Syndrome
Radial head subluxation, Radioulnar synostosis, Tarsal synostosis, Talipes equinovarus, Genu valg... OMIM:163400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Abno... ORPHA:2370
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Finger syndactyly, Triphalangeal thumb, Short distal phalanx of finge... ORPHA:957
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Charlie M Syndrome
Brachydactyly, Finger syndactyly, Triphalangeal thumb, Micrognathia, Split hand, Abnormal metacar... ORPHA:1406
Nicolaides-Baraitser Syndrome
Brachydactyly, Short metacarpal, Sandal gap, Short phalanx of finger, Failure to thrive, Prominen... OMIM:601358
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypoplasia of the ... OMIM:119100
Keipert Syndrome
Brachydactyly, Clinodactyly, Broad hallux, Broad distal phalanx of finger, Broad thumb OMIM:301026
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Micromelia, Limb undergrowth, Camptodactyly, Joint contracture of the hand OMIM:601016
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Metaphyseal s... OMIM:608728
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Brachydactyly, Toe syndactyly, Bilateral triphalangeal thumbs, Triphalangeal thumb, Absent middle... OMIM:124480
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Tetralogy Of Fallot
Brachydactyly, Clinodactyly of the 5th finger ORPHA:3303
Thoracomelic Dysplasia
Abnormality of pelvic girdle bone morphology, Short ribs, Abnormality of fibula morphology, Diaph... ORPHA:1803
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Short ribs, Absent ti... OMIM:613091
Ruvalcaba Syndrome
Brachydactyly, Synostosis of carpal bones, Short metacarpal, Clinodactyly of the 5th finger, Cone... ORPHA:3121
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Advanced tarsal ossification, Short ribs, Squared iliac bo... OMIM:215045
Congenital Bowing Of Long Bones
Bowing of the long bones ORPHA:2292
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Lower limb undergrowth OMIM:612847
Tricho-Retino-Dento-Digital Syndrome
Brachydactyly, Short 5th metacarpal, Abnormality of the hand ORPHA:1264
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Short palm, Sa... ORPHA:90650
49,Xyyyy Syndrome
Azoospermia, Short 5th finger, Abnormality of the epiphyses of the elbow, Bridged palmar crease, ... ORPHA:99330
Spondylometaphyseal Dysplasia, Kozlowski Type
Carpal bone hypoplasia, Halberd-shaped pelvis, Enlarged joints, Delayed ossification of carpal bo... OMIM:184252
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Brachydactyly, Short palm, Rhizo-meso-acromelic limb shortening, Short metacarpal, Short phalanx ... OMIM:611717
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius ORPHA:3469
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachydactyly, Cone-shaped epiphysis, Osteoarthritis, Small hand, Delayed epiphyseal ossification OMIM:618618
Juberg-Hayward Syndrome
Toe syndactyly, Hammertoe, Short thumb, Hypoplasia of the radius, Radioulnar synostosis, Abnormal... ORPHA:2319
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Brachydactyly, Clinodactyly, Short phalanx of finger, Small hand, Broad finger OMIM:614684
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Limb undergrowth, Micromelia, Massively thickened long bone cortices OMIM:122900
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones ORPHA:40
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Abnormality of fibula morphology, Abnormal... ORPHA:1837
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Leri Pleonosteosis
Brachydactyly, Abnormality of epiphysis morphology, Elbow dislocation, Abnormality of the metaphy... ORPHA:2900
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Absent radius, Aplasia/Hypoplasia of the thumb, Clinodactyly of the 5th f... ORPHA:1352
Omodysplasia 2
Dislocated radial head, Rhizomelic arm shortening, Limited elbow flexion, Short humerus, Short 1s... OMIM:164745
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Single transverse palmar crease, Rhizomelia, Hypoplasia of... OMIM:602613
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short palm, Flare... ORPHA:63446
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Abnormal morphology of ulna, Short tibia, Sho... ORPHA:93323
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Brachydactyly, Hip osteoarthritis, Osteoarthritis, Short thumb, Broad hallux OMIM:165800
Auriculoosteodysplasia
Elbow dislocation, Abnormality of the wrist, Abnormal metacarpal morphology, Hip dysplasia, Aplas... ORPHA:114
Radial Heads, Posterior Dislocation Of
Limited elbow extension, Posterior radial head dislocation, Antecubital pterygium OMIM:179200
Desbuquois Dysplasia 2
Advanced ossification of carpal bones, Genu varum, Short long bone, Single transverse palmar crea... OMIM:615777
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short femur, Short humerus OMIM:600121
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Multiple Epiphyseal Dysplasia, Beighton Type
Brachydactyly, Flat capital femoral epiphysis, Reduced proximal interphalangeal joint space, Abno... ORPHA:166011
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Hypoplasia of the ulna, Patellar hypoplasia, Abse... OMIM:218600
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Short femoral neck, Broad radial metaphysis, Wide distal femoral metaphysis, ... ORPHA:99642
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Flattened epiphysis, Coxa valga, Short femoral neck, Obesi... OMIM:618363
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Radial head subluxation, 11 pairs of ribs, Micrognathia, Hallux valgus, Metaph... OMIM:271640
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Acrodysplasia Scoliosis
Brachydactyly ORPHA:2956
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Hypoplastic il... OMIM:223800
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Hypoplasia of the ulna, Absent radius, Clinodactyly of the 5th finger, Micrognathia, Aplasia of t... OMIM:600123
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Chondrodysplasia-Disorder Of Sex Development Syndrome
Abnormality of pelvic girdle bone morphology, Short metacarpal, Short phalanx of finger, Micromel... ORPHA:1422
Microcephaly-Albinism-Digital Anomalies Syndrome
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Micrognathia ORPHA:2513
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short metatarsal, 2-3 toe syndactyly, Absent toe OMIM:614814
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Short thumb OMIM:613390
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Finger syndactyly, Short metacarpal, Sandal gap, Short phalanx of finger, Micrognathia, Failure t... OMIM:264475
Mesomelia-Synostoses Syndrome
Brachydactyly, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of the han... ORPHA:2496
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Obesity, Short phalanx of finger, Short toe, Short metatarsal OMIM:600430
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Narrow iliac wing, Flattened epiphysis, Coxa valga, Irregular tarsal ossi... OMIM:226980
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Aplasia of the ulna, Carpal bone aplasia, Aplasia/... OMIM:276820
Moebius Syndrome
Brachydactyly, Clinodactyly, Hypogonadotropic hypogonadism, Abnormality of pelvic girdle bone mor... OMIM:157900
Mesomelia-Synostoses Syndrome
Micromelia, Microretrognathia, Ulnar deviation of the hand or of fingers of the hand, Progressive... OMIM:600383
Mesomelic Dysplasia, Savarirayan Type
Delayed closure of the anterior fontanelle, Dislocated radial head, Fibular aplasia, Short tibia,... OMIM:605274
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Cutaneous finger syndactyly, Hypoplasia of the odontoid process OMIM:601829
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micromelia, Abnorma... ORPHA:1263
Acrocephalopolydactyly
Brachydactyly, Genu recurvatum, Limb undergrowth, Short long bone ORPHA:221054
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the long bones, Bowing of the legs, Brachydactyly, Metaphyseal irregularity, Abnormalit... ORPHA:85167
Craniosynostosis And Dental Anomalies
Clinodactyly, Lambdoidal craniosynostosis, Craniosynostosis, 2-3 toe syndactyly, Coronal craniosy... OMIM:614188
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Sillence Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal proximal phalanx morphology... ORPHA:3168
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Short metacarpal, Squared iliac bone... OMIM:618853
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Multiple palmar creases, Preaxial polydactyly, Mesomelic leg short... ORPHA:2756
Marinesco-Sjogren Syndrome
Coxa valga, Short metacarpal, Failure to thrive, Cubitus valgus, Hypergonadotropic hypogonadism, ... OMIM:248800
Atelosteogenesis, Type Ii
Abnormality of pelvic girdle bone morphology, Short greater sciatic notch, Sandal gap, Micrognath... OMIM:256050
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Flattened metatarsal heads, Flattened metacarpal heads, Arthritis, Arthropathy, Wrist flexion con... OMIM:208250
Wiedemann-Steiner Syndrome
Clinodactyly of the 5th finger, Tapered finger, Short phalanx of finger, Failure to thrive, Short... OMIM:605130
Pde4D Haploinsufficiency Syndrome
Brachydactyly, Bilateral coxa valga, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fi... ORPHA:439822
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal pelvis bone morphology, Broad femoral neck, Genu valgum, W... ORPHA:239
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Distal Trisomy 5Q
Brachydactyly, Absent thumb, Hypoplasia of the ulna, Craniosynostosis, Hypoplasia of the radius, ... ORPHA:96097
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Short 1st metacarpal, Metaphy... OMIM:251450
Trichorhinophalangeal Syndrome Type 1 And 3
Shortening of all phalanges of fingers, Short metacarpal, Clinodactyly of the 5th finger, Cone-sh... ORPHA:77258
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
3M Syndrome
Hypoplastic ischia, Hypoplastic pubic bone, Hypoplasia of the ulna, Rocker bottom foot, Clinodact... ORPHA:2616
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Brachydactyly, Clinodactyly, Hypoplastic sacrum, Short femoral neck, Small for gestational age, S... OMIM:614813
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Brachydactyly, Narrow iliac wing, Genu varum, Metaphyseal irregularity, Short long bone, Short pa... OMIM:250420
Multiple Synostoses Syndrome 4
Brachydactyly, Overlapping toe, Tarsal synostosis OMIM:617898
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Decreased palmar creases, Small for gestational... ORPHA:2980
Osteoglophonic Dysplasia
Bowing of the long bones, Craniosynostosis, Short palm, Chordee, Short metacarpal, Rhizomelia, Br... OMIM:166250
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Genu valgum,... ORPHA:457395
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short femoral neck, Short ribs, Micro... OMIM:602557
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Bardet-Biedl Syndrome 4
Brachydactyly, Syndactyly, Polydactyly OMIM:615982
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Short middle phalanx of finger, Fused cervical vertebrae ORPHA:1436
Kyphomelic Dysplasia
Bowing of the long bones, Missing ribs, Micrognathia, Micromelia, Abnormality of the metaphysis, ... ORPHA:1801
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Hypoplastic iliac wing, Hip dysplasia, Short distal phalanx of finger ORPHA:1858
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Brachydactyly OMIM:618879
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb, Micrognathia... ORPHA:3098
Muenke Syndrome
Brachydactyly, Clinodactyly, Thimble-shaped middle phalanges of hand, Coronal craniosynostosis, C... OMIM:602849
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Po... ORPHA:65759
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
C Syndrome
Clinodactyly, Toe syndactyly, Postaxial foot polydactyly, Dislocated radial head, Short metacarpa... OMIM:211750
Weill-Marchesani Syndrome 4
Brachydactyly OMIM:613195
Image Syndrome
Micromelia, Hypogonadism, Metaphyseal dysplasia ORPHA:85173
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Mesomelic leg shortening, Mesomelic arm shortening, Abnormal han... OMIM:300244
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Phenobarbital Embryopathy
Brachydactyly, Aplasia/Hypoplasia of fingers ORPHA:1919
Meckel Syndrome, Type 9
Talipes equinovarus, Limb undergrowth OMIM:614209
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Micromelia, Flared metaphysis, Short long bone, Broad long bones... OMIM:601561
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Delayed pubic bone ossification,... OMIM:184250
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Short metacarpal, Obesity, Short finger, Short toe, Short metatarsal, Hypogonadism OMIM:103580
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciatic notch, Brac... OMIM:250220
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Nivelon-Nivelon-Mabille Syndrome
Micromelia, Short phalanx of finger, Short metacarpal, Brachydactyly OMIM:600092
Hand-Foot-Genital Syndrome
Brachydactyly, Small thenar eminence, Ulnar deviation of the 2nd finger, Delayed tarsal ossificat... OMIM:140000
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormality of epiphysis morphology, Carpal osteolysis, Metacarpal osteolysis, Micrognathia, Wris... ORPHA:2774
Roifman Syndrome
Brachydactyly, Single transverse palmar crease, Short metacarpal, Clinodactyly of the 5th finger,... OMIM:616651
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Short distal phalan... OMIM:601957
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Short 3rd toe, Micrognathia,... OMIM:211920
Microcephalic Primordial Dwarfism, Toriello Type
Clinodactyly, Short palm, Short middle phalanx of toe, Micrognathia, Short proximal phalanx of th... OMIM:251190
Anauxetic Dysplasia 2
Brachydactyly, Coxa valga, Hypoplasia of the femoral head, Short femoral neck, Cubitus valgus, Me... OMIM:617396
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Short palm, Cone-shaped epiphysis, Abnormality of the p... ORPHA:2511
Mucolipidosis Iii Alpha/Beta
Short long bone, Shallow acetabular fossae, Craniosynostosis, Short ribs, Irregular carpal bones,... OMIM:252600
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short 4th metacarpal, Short clavicles, Microretrognathia, Joint dislocation OMIM:606220
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the radius, Microg... OMIM:263750
Pelger-Huet Anomaly
Short 5th metacarpal, Short 4th metacarpal, Upper limb undergrowth, Polydactyly, Failure to thriv... OMIM:169400
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 42