Gene Summary

Name:
growth differentiation factor 5
Synonyms:
bp,  cartilage-derived morphogenetic protein-1,  CDMP-1,  brp

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
abnormal digit morphology Gdf5em1(IMPC)H HOM Early adult 1.10×10-23
abnormal bone structure Gdf5em1(IMPC)Bay HOM Early adult 2.16×10-09
limb grasping Gdf5em1(IMPC)H HOM Early adult 1.91×10-08
abnormal hindlimb morphology Gdf5em1(IMPC)H HOM Early adult 1.10×10-23
increased bone mineral density Gdf5em1(IMPC)H HOM Early adult 5.11×10-05
decreased lymphocyte cell number Gdf5em1(IMPC)H HOM Early adult 1.56×10-05
abnormal bone structure Gdf5em1(IMPC)H HOM Early adult 4.41×10-07
abnormal autopod morphology Gdf5em1(IMPC)H HOM Early adult 1.10×10-23
decreased locomotor activity Gdf5em1(IMPC)H HOM   Early adult 1.52×10-05
decreased leukocyte cell number Gdf5em1(IMPC)H HOM Early adult 8.06×10-05
decreased grip strength Gdf5em1(IMPC)Bay HOM Early adult 3.49×10-38
abnormal forelimb morphology Gdf5em1(IMPC)H HOM Early adult 1.10×10-23
abnormal gait Gdf5em1(IMPC)H HOM Early adult 5.71×10-18
decreased vertical activity Gdf5em1(IMPC)H HOM   Early adult 4.22×10-05
decreased exploration in new environment Gdf5em1(IMPC)H HOM   Early adult 2.24×10-07

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

VIP of right eye

15 Images

Eye Morphology

VIP of right fundus

15 Images

Eye Morphology

VIP of left eye

15 Images

Eye Morphology

VIP of left fundus

15 Images

Human diseases caused by Gdf5 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 Gdf5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Symphalangism, Proximal, 1B
Clinodactyly of the 5th finger, Short 2nd finger, Proximal/middle symphalangism of 5th finger, Ab... OMIM:615298
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... OMIM:610017
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Multiple Synostoses Syndrome
Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ... ORPHA:3237
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility, Short middle phalanx of the 5th finger, Delayed skeletal... ORPHA:63442

The table below shows human diseases predicted to be associated to Gdf5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Liebenberg Syndrome
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Brachydactyly, Type A1, D
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short proximal phalanx of finger, Abn... OMIM:616849
Symphalangism, Proximal, 1B
Clinodactyly of the 5th finger, Short 2nd finger, Proximal/middle symphalangism of 5th finger, Ab... OMIM:615298
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... OMIM:272150
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... OMIM:112700
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Cleidorhizomelic Syndrome
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Rhizomelia, Clinodactyly ... ORPHA:1453
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Distal symphalangism of hands, Cubit... OMIM:186570
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Syndactyly Type 5
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... ORPHA:93406
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Familial Digital Arthropathy-Brachydactyly
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... ORPHA:85169
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... OMIM:611263
Metaphyseal Anadysplasia 2
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... OMIM:613073
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Brachydactyly Type A7
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... ORPHA:93397
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... OMIM:250460
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... ORPHA:93405
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Short metacarpal, Hypoplasia of the femor... OMIM:226900
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay
Metatarsus adductus, Unusual dermatoglyphics OMIM:112370
Eiken Syndrome
Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi... ORPHA:79106
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... ORPHA:3246
Banki Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... ORPHA:1228
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Metachondromatosis
Abnormal metaphysis morphology, Avascular necrosis, Bone pain, Multiple enchondromatosis, Abnorma... ORPHA:2499
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial de... OMIM:102510
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... ORPHA:50809
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Distal Symphalangism
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Brachydactyly, Type A1, C
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... OMIM:615072
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Hypoplasia of the femoral head, Short humerus, Short ... OMIM:619598
Digital Arthropathy-Brachydactyly, Familial
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... OMIM:606835
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Proximal Symphalangism
Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of... ORPHA:3250
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture... ORPHA:93320
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt... OMIM:271650
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx... ORPHA:79445
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Radial head subluxation, Carpal synostosis, Metacarpophalang... OMIM:186400
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal OMIM:113301
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... OMIM:185800
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... ORPHA:1278
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Ta... ORPHA:1836
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia OMIM:276821
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Aplasia of the mi... OMIM:112800
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Proximal s... OMIM:610017
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, K... OMIM:600969
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep... OMIM:249600
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe OMIM:190680
Upington Disease
Flattened femoral head, Broad femoral neck, Multiple enchondromatosis, Arthralgia of the hip OMIM:191520
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... OMIM:186100
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Limited pronation/supination of forearm, Radioulnar synostosis OMIM:179300
Syndactyly Type 1
Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger... ORPHA:93402
Ophthalmomandibulomelic Dysplasia
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... OMIM:164900
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Acropectorovertebral Dysplasia
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Spina bifi... ORPHA:957
Metatarsus Varus, Type I
Metatarsus adductus OMIM:156520
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... ORPHA:90650
Pseudoachondroplasia
Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Joint stif... ORPHA:750
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1891
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... ORPHA:2741
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Short palm, Short phalanx of finger, Delayed skele... OMIM:102370
Exostoses, Multiple, Type Ii
Genu valgum, Cervical myelopathy, Protuberances at ends of long bones, Short metacarpal, Madelung... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Cervical myelopathy, Protuberances at ends of long bones, Short metacarpal, Madelung... OMIM:133700
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Li... OMIM:151200
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx OMIM:618724
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormality of the hand, Abnormal foot morphology, Anterior ... OMIM:605274
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short metacarpal, Micromelia, Short palm, Short phalan... OMIM:180870
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly ORPHA:1078
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... OMIM:112600
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Cutaneous syndactyly, S... OMIM:185900
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... ORPHA:85170
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... OMIM:605282
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Pacman Dysplasia
Bowing of the long bones, Epiphyseal stippling OMIM:167220
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
Steel Syndrome
Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Coxa ... OMIM:615155
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Upper... ORPHA:3266
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia OMIM:246570
Smith-Mccort Dysplasia 2
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... OMIM:615222
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Cleidorhizomelic Syndrome
Rhizomelia, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger OMIM:119650
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Micromelia, Metatarsus adductus, Broad... ORPHA:2249
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short... OMIM:612447
Syndactyly Type 3
Finger syndactyly, Camptodactyly of finger, Short toe ORPHA:93404
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, De... OMIM:617974
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Multiple Epiphyseal Dysplasia Type 4
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Accelerated skeleta... ORPHA:93307
Peripheral Dysostosis
Short phalanx of finger, Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology OMIM:259270
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis ORPHA:71289
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:233270
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ... ORPHA:2141
Hhhh Syndrome
Hemiatrophy OMIM:306960
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... ORPHA:2831
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of the wrist, Abnormal metacarpal... ORPHA:1350
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox... OMIM:616716
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S... ORPHA:1540
Congenital Vertical Talus
Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Myelo... ORPHA:178382
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Brachydactyly ORPHA:35099
Arthrogryposis, Distal, Type 11
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... OMIM:620019
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly ORPHA:1471
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... OMIM:177170
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Joint stiffness, Mesomelia, Umbilical hernia, Abnormality of the hand,... ORPHA:2496
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... OMIM:271700
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... OMIM:610713
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... OMIM:609432
Spondylometaphyseal Dysplasia, A4 Type
Short palm, Coxa vara, Micromelia ORPHA:168555
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal ORPHA:228190
Acromegaloid Facial Appearance Syndrome
Micrognathia, Large hands, Joint hypermobility, Tapered finger, Short 5th metacarpal OMIM:102150
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Easily subluxated first metacarpophalangeal joints, Micrognathia,... OMIM:311895
Acromicric Dysplasia
Abnormal femur morphology, Short metacarpal, Joint stiffness, Short palm, Delayed skeletal matura... ORPHA:969
Van Bogaert-Hozay Syndrome
Micrognathia, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand OMIM:277150
Epiphyseal Dysplasia, Baumann Type
Marked delay in bone age, Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypop... OMIM:610797
Coloboma Of Macula With Type B Brachydactyly
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... OMIM:120400
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short thumb, Delayed skeletal maturation, Short metacarpal ORPHA:2489
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... OMIM:105835
Multiple Synostoses Syndrome
Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ... ORPHA:3237
Symphalangism, Distal
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... OMIM:185700
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... OMIM:113310
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis, Carpal synostosis ORPHA:2010
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... OMIM:609324
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... OMIM:190351
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... ORPHA:370010
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy... OMIM:251450
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Short 5th metacarpal OMIM:604381
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Short foot, Small hand OMIM:300261
Winchester Syndrome
Carpal osteolysis, Arthropathy, Broad metacarpals, Generalized osteoporosis, Osteolysis involving... OMIM:277950
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Osteochondrosis Of The Metatarsal Bone
Difficulty walking, Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthrit... ORPHA:564003
Legg-Calvé-Perthes Disease
Delayed skeletal maturation, Cartilage destruction, Joint dislocation, Avascular necrosis ORPHA:2380
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, B... OMIM:618435
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... OMIM:147891
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... ORPHA:166002
Odontotrichoungual-Digital-Palmar Syndrome
Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Brachydacty... OMIM:601957
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced ossification... OMIM:614613
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Short metacarpal ORPHA:261524
Pseudopseudohypoparathyroidism
Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly OMIM:612463
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Lower-limb metaphyseal irregularity, Enlarged metaphyses, Short long bone, Upper-limb metaphyseal... OMIM:618728
Satoyoshi Syndrome
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... OMIM:600705
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Bowing of the long bones, Abnormal pel... ORPHA:429
Multiple Epiphyseal Dysplasia Type 1
Genu valgum, Knee joint hypermobility, Arthralgia of the hip, Delayed epiphyseal ossification, Kn... ORPHA:93308
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Acromesomelic Dysplasia 1
Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep... OMIM:602875
Osseous Heteroplasia, Progressive
Limb undergrowth OMIM:166350
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Brachydactyly Type A4
Short middle phalanx of the 5th finger, Symphalangism affecting the phalanges of the hand, Short ... ORPHA:93394
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short thumb, Short metacarpal, Abnormal metacarpal morphology, Duplication of the distal phalanx ... ORPHA:973
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Spondylometaphyseal Dysplasia, Corner Fracture Type
Corner fracture of metaphysis, Coxa vara, Hypoplasia of the odontoid process, Short femoral neck,... OMIM:184255
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... OMIM:201170
Second Metatarsal-Metacarpal Syndrome
Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Blount Disease
Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the proximal tibial epiphysi... ORPHA:2768
Crossed Polysyndactyly
Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb ORPHA:2935
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... ORPHA:1788
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap OMIM:612916
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint... ORPHA:1570
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... OMIM:606895
Talonavicular Coalition
Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm... OMIM:186750
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... ORPHA:2438
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... OMIM:135750
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormal to... OMIM:216100
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Metaphyseal... OMIM:156510
Autosomal Dominant Omodysplasia
Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Patellar dislocation, ... ORPHA:93328
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Chromosome 2Q31.1 Duplication Syndrome
Triphalangeal thumb, Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus OMIM:613681
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing... OMIM:249710
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar... ORPHA:2928
Ivic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Carpal bone hypoplasia, T... OMIM:147750
Enchondromatosis, Multiple, Ollier Type
Multiple enchondromatosis, Abnormal long bone morphology OMIM:166000
Muenke Syndrome
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... OMIM:602849
Dysplasia Epiphysealis Hemimelica
Tarsal synostosis, Irregular epiphyses, Abnormal femur morphology, Genu valgum, Bone pain, Abnorm... ORPHA:1822
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Prominent m... ORPHA:3210
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga OMIM:132450
Muenke Syndrome
Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm, Cone-shaped epiphysis, Carpa... ORPHA:53271
Microphthalmia With Limb Anomalies
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... OMIM:206920
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormal epiphysis morphology, Micromelia ORPHA:93283
Eiken Syndrome
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... OMIM:600002
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Type D brachydactyly OMIM:306980
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... OMIM:164745
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Dislocated radial head, Delayed ossification of c... OMIM:618395
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... OMIM:184260
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... ORPHA:440354
Waardenburg Syndrome Type 3
Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal b... ORPHA:896
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... ORPHA:93356
Craniosynostosis-Mental Retardation-Clefting Syndrome
Lower limb undergrowth, Forearm undergrowth OMIM:218650
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... ORPHA:2502
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Ruvalcaba Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiphysis morphol... ORPHA:3121
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Waardenburg Syndrome, Type 3
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Brachydactyly, Clinodacty... OMIM:148820
Aphalangy-Syndactyly-Microcephaly Syndrome
Abnormal metacarpal morphology, Split foot, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:1113
Acrodysostosis
Abnormal femur morphology, Short metacarpal, Accelerated skeletal maturation, Cone-shaped epiphys... ORPHA:950
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi... ORPHA:85166
Cardiospondylocarpofacial Syndrome
Short palm, Synostosis of carpal bones, Brachydactyly ORPHA:3238
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes cavus, Pes planus, Tapered finger, Short foot OMIM:309585
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the... ORPHA:2557
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Micrognathia, Decreased body weight, Clinodactyly ORPHA:357175
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Mueller-Weiss Syndrome
Equinovarus deformity, Fragmented, irregular epiphyses, Talipes calcaneovarus, Knee osteoarthriti... ORPHA:566943
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... OMIM:612576
Intellectual Developmental Disorder, X-Linked 91
Cubitus valgus, Short foot, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Nievergelt Syndrome
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli... OMIM:163400
Lethal Recessive Chondrodysplasia
Short long bone, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth ORPHA:1423
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Syndactyly OMIM:615938
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
2q37 monosomy
Brachydactyly DECIPHER:44
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r... OMIM:602471
Mesomelia-Synostoses Syndrome
Narrow foot, Short umbilical cord, Carpometacarpal synostosis, Short metatarsal, Metacarpal synos... OMIM:600383
Prenatal Bowing
Bowing of the long bones OMIM:264050
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Limitation of joint mobility... OMIM:609162
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Micrognathia, Decreased body weight, Clinodactyly OMIM:615162
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... OMIM:601356
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Delayed skeletal maturation, Radioulnar synost... ORPHA:3268
Acromesomelic Dysplasia 4
Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ... OMIM:619636
Fatco Syndrome
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... ORPHA:2492
Tetrasomy X
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Joint hypermobility, Hip dy... ORPHA:9
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, 2-4 toe syndactyly, Syndactyly, Azoospermia OMIM:241000
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility, Short middle phalanx of the 5th finger, Delayed skeletal... ORPHA:63442
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Mesomelia, Brachydactyly, Abnormal shoulder morphology ORPHA:1277
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Multiple joint dislocation, Slender metacarpals, Metaphyseal irregularity, Joint hypermobility, G... ORPHA:93360
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Saul-Wilson Syndrome
Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared... OMIM:618150
Laron Syndrome
Delayed menarche, Short long bone, Limb undergrowth OMIM:262500
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... ORPHA:710
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... OMIM:166740
Feingold Syndrome Type 2
Toe syndactyly, Short middle phalanx of finger, Short thumb, Brachydactyly ORPHA:391646
Arthrogryposis, Distal, Type 7
Hammertoe, Metatarsus adductus, Micrognathia, Distal arthrogryposis, Cutaneous syndactyly of toes... OMIM:158300
Trichorhinophalangeal Syndrome Type 1
Clinodactyly of the 5th finger, Short metatarsal, Short metacarpal, Camptodactyly of finger, Micr... ORPHA:77258
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Flattened metacarpal heads, Flattened metatarsal heads, Synovial lining hyperplasia, Arthritis, A... OMIM:208250
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia OMIM:165590
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Thalidomide Embryopathy
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... ORPHA:3312
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c... ORPHA:1802
Otoonychoperoneal Syndrome
Ankle flexion contracture, Hip contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contra... OMIM:259780
Jeune Syndrome
Abnormal metaphysis morphology, Cone-shaped epiphysis, Postaxial hand polydactyly, Abnormal pelvi... ORPHA:474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Met... OMIM:613091
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... OMIM:119100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, Flat capital femoral epiphysis, Flared metaphysis, Dislocated radial head, Short meta... OMIM:612350
Metaphyseal Chondrodysplasia, Schmid Type
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... OMIM:156500
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... ORPHA:3258
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Joint dislocation, Tapered finger, Camptodactyly of finger, Aplasia/Hypopla... ORPHA:3201
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Delayed skeletal maturation, Wormi... OMIM:619638
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Kyphomelic Dysplasia
Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing, Femoral b... OMIM:211350
Roifman-Chitayat Syndrome
Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Umbilical hernia, Cone-shaped epiphysis OMIM:613328
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Reduced bone mineral density, Short femoral neck, Brachydac... OMIM:618392
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... OMIM:614851
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Finger syndactyly, Aplasia/Hypoplasia of the pat... ORPHA:3320
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t... OMIM:609052
Acrocapitofemoral Dysplasia
Flared iliac wing, Micromelia, Abnormal femoral neck morphology, Short palm, Cone-shaped metacarp... ORPHA:63446
Pde4D Haploinsufficiency Syndrome
Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa... ORPHA:439822
Solitary Bone Cyst
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... ORPHA:83468
Stickler Syndrome, Type Iv
Genu valgum, Flat capital femoral epiphysis, Hypoplastic iliac wing, Short metacarpal, Coxa vara,... OMIM:614134
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim... OMIM:600785
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly ORPHA:294975
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Aplasia/H... ORPHA:337
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly OMIM:228250
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger aplasia, Micrognathia, Abn... ORPHA:3104
Congenital Varicella Syndrome
Micromelia ORPHA:291
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Failure to thrive, Shor... ORPHA:420794
Split-Hand/Foot Malformation 6
Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly OMIM:225300
Variegate Porphyria, Childhood-Onset
Short finger, Delayed skeletal maturation, Short metacarpal OMIM:620483
Coxoauricular Syndrome
Abnormal femur morphology, Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia ORPHA:1508
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Micrognathia, Broad hall... OMIM:212780
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Micrognathia, Broad... OMIM:613684
Atelosteogenesis Type Ii
Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, E... ORPHA:56304
Marinesco-Sjogren Syndrome
Cubitus valgus, Short metatarsal, Short metacarpal, Flexion contracture, Pes planus, Coxa valga OMIM:248800
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... ORPHA:2619
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Joint stiffness, Cam... ORPHA:1323
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Short... ORPHA:2307
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Delayed s... ORPHA:2501
Chst3-Related Skeletal Dysplasia
Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Cubitus valgus, Short metacarpal, ... ORPHA:263463
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Flat acetabular roof, Bowing of the long bones, Missing ribs, Mic... ORPHA:1801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Short metacarpal, Wr... ORPHA:1826
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis, Dense metaphyseal bands, Metaphyseal dysplasia OMIM:615198
Pelviscapular Dysplasia
Elbow flexion contracture, Abnormality of the joint spaces of the elbow, Hypoplastic ilia, Congen... ORPHA:93333
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Increased susceptibility to fractures, Osteopenia, Talipes equinovarus, Flared metaphysis, Dyspla... OMIM:615349
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn... OMIM:183600
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Bifid distal phalanx of toe, Preaxial hand poly... OMIM:186350
Greenberg Dysplasia
Rhizomelia, Abnormal pelvis bone ossification, Micromelia, Micrognathia, Brachydactyly ORPHA:1426
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, F... OMIM:616723
Cooks Syndrome
Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly ORPHA:1487
Sclerosteosis
Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Finger ... ORPHA:3152
Otospondylomegaepiphyseal Dysplasia
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... ORPHA:1427
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Short long... ORPHA:1106
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Absent thumb, Radioulnar synost... OMIM:614900
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Small epiphyses, Single interp... OMIM:611717
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence OMIM:179270
Vertical Talus, Congenital
Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity OMIM:192950
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Shortening of... OMIM:619135
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Carpal bone hypoplasia, Abnormal foot morphology, Cone-shaped epiph... OMIM:184252
Arthrogryposis, Distal, Type 1A
Rocker bottom foot, Single transverse palmar crease, Elbow flexion contracture, Ulnar deviation o... OMIM:108120
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap ORPHA:217017
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Short 5th metacarpal, Brachydactyly ORPHA:1264
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Postaxial hand polydactyly, Short thumb, Short 2nd toe OMIM:176305
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Pes cavus, Distal lower limb muscle weakness, Abnormal foot morphology, Split hand, Weakness of t... ORPHA:324442
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Short metacarpal, Osteoporosis, Subcutaneous ossification, Short ... OMIM:103580
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... ORPHA:166119
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla... ORPHA:971
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Hitchhiker thumb, Short greater sciatic notch, Flat acetabular roof, A... OMIM:256050
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic... ORPHA:3344
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Wormian bones, Brachydactyly ORPHA:2787
Hypochondroplasia
Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie... OMIM:146000
Smith-Mccort Dysplasia 1
Genu valgum, Irregular epiphyses, Hypoplastic acetabulae, Limitation of joint mobility, Short met... OMIM:607326
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic... ORPHA:246
Seckel Syndrome 1
Clinodactyly of the 5th finger, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalan... OMIM:210600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... OMIM:608728
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Abnormal hip bone morphology, Bow... ORPHA:2631
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Femoral-Facial Syndrome
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... ORPHA:1988
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R... ORPHA:53697
W Syndrome
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Camptodactyly, Metatarsus adductus, Radial bow... ORPHA:2804
Desbuquois Dysplasia 2
Short long bone, Flat acetabular roof, Short metacarpal, Broad thumb, Joint hypermobility, Genu v... OMIM:615777
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... OMIM:272460
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short toe OMIM:600430
Fibrochondrogenesis 1
Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin... OMIM:228520
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Cohen Syndrome
Genu valgum, Cubitus valgus, Short metatarsal, Single transverse palmar crease, Short metacarpal,... OMIM:216550
Orofaciodigital Syndrome Iv