Registered for phenotyping at IMPC

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

Gene Summary

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

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 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
Pes planus, Abnormal finger flexion creases, Proximal/middle symphalangism of 5th finger, Clinoda... OMIM:615298
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Finger clinodactyly, Synostosis of... ORPHA:3250
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Bilateral single transverse... ORPHA:968
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Symphalangism aff... ORPHA:3237
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Abnormality of epiphysis morphology, Hip osteoarthritis, Short middle phalanx of f... 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
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Symphalangism, Proximal, 1B
Pes planus, Abnormal finger flexion creases, Proximal/middle symphalangism of 5th finger, Clinoda... OMIM:615298
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Brachydactyly, Combined B And E Types
Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ... OMIM:112440
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Wahab Syndrome
Ankylosis, Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Ad... OMIM:615170
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Brachydactyly, Type A1, D
Short proximal phalanx of finger, Short proximal phalanx of thumb, Short distal phalanx of the 2n... OMIM:616849
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... ORPHA:1453
Metachondromatosis
Abnormality of epiphysis morphology, Bone pain, Multiple enchondromatosis, Avascular necrosis, Ab... ORPHA:2499
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brac... OMIM:611263
Long-Thumb Brachydactyly Syndrome
Short finger, Long thumb, Brachydactyly OMIM:112430
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, J... ORPHA:93387
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short hallux, Short metatarsal, Hallux varus, Hitchhiker thumb, Short distal phalanx of finger, S... OMIM:112450
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Epiphyseal dysplasia, Limited elbow flexion, Double-layered patella, Short metacar... OMIM:226900
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay
Metatarsus adductus, Unusual dermatoglyphics OMIM:112370
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Eiken Syndrome
Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irregularity, Abnorma... ORPHA:79106
Banki Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... ORPHA:1228
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Joint stiffness,... ORPHA:1275
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Short 4th ... ORPHA:50809
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Synostos... ORPHA:93351
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Distal Symphalangism
Camptodactyly of finger, Joint stiffness, Symphalangism affecting the phalanges of the hand, Syno... ORPHA:3248
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Finger clinodactyly, Synostosis of... ORPHA:3250
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Curved Nail Of Fourth Toe
Short distal phalanx of finger OMIM:219070
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal OMIM:112410
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Synov... OMIM:609655
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Limited elbow extension, Upper limb undergrowth, Short metatarsa... OMIM:271650
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Radial head subluxatio... OMIM:186400
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Short 5th metacarpal, Ectopic ossification, Short distal ... ORPHA:79445
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movement, Duplic... ORPHA:93320
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Metaphyseal cupping of metacarpals, Short long bone, Meta... OMIM:250460
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Synostosis of carpals/tarsals, Coales... OMIM:301940
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Radioulnar Synostosis, Nonsyndromic, Susceptibility To
Dislocated radial head, Radioulnar synostosis, Limited elbow extension OMIM:179300
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... OMIM:228900
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Short metatarsal OMIM:113301
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachydactyly, Short metatarsal, Short metacarpal OMIM:113400
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Thiemann Disease, Familial Form
Abnormality of the metaphysis, Brachydactyly, Abnormality of epiphysis morphology ORPHA:3314
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Single t... OMIM:227270
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Cubitus valgus, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Mesomelia, Hypop... OMIM:249700
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Jackson-Weiss Syndrome
Craniosynostosis, Short metatarsal, Hallux varus, Broad metatarsal, 2-3 toe syndactyly, Calcaneon... OMIM:123150
Leri-Weill Dyschondrosteosis
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... OMIM:127300
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... OMIM:151200
Brachydactyly, Type E2
Brachydactyly, Short metatarsal, Short metacarpal OMIM:613382
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Bilateral single transverse... ORPHA:968
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Multiple Synostoses Syndrome 3
Cutaneous syndactyly of toes, Humeroradial synostosis, Cubitus valgus, Broad thumb, Hallux varus,... OMIM:612961
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Short metacarpal, Mic... ORPHA:1278
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Adams-Oliver Syndrome 3
Absent toe, 2-3 toe syndactyly, Short metatarsal, Short distal phalanx of finger OMIM:614814
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Delayed epiphyseal ossification, Limited ... OMIM:600969
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger OMIM:190680
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Upington Disease
Arthralgia of the hip, Flattened femoral head, Multiple enchondromatosis, Broad femoral neck OMIM:191520
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... OMIM:611702
Metatarsus Varus, Type I
Metatarsus adductus OMIM:156520
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Lateral humeral condyle aplasia, Elbow disloca... OMIM:164900
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Finger syndactyly, Synosto... ORPHA:957
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Flat ace... ORPHA:750
Czech Dysplasia
Short toe, Short metatarsal, Flexion contracture, Narrow iliac wing, Narrow femoral neck, Coxa va... OMIM:609162
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dislocation, Hyp... ORPHA:90650
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Exostoses, Multiple, Type I
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133700
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Brachydactyly-Distal Symphalangism Syndrome
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... OMIM:113450
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Split hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Short metatarsal, Type B brac... OMIM:106990
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Limited elbow flexion/extension, Short 1st met... OMIM:164745
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Acromicric Dysplasia
Short phalanx of finger, Cone-shaped epiphysis, Short foot, Fifth metacarpal with ulnar notch, Sh... OMIM:102370
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, 11 pairs of ribs, Short metacarpal, Broad phalanx, Broad metacarpals OMIM:618724
Exostoses, Multiple, Type Ii
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133701
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Smith-Mccort Dysplasia 2
Genu valgum, Short metatarsal, Short phalanx of finger, Metaphyseal irregularity, Pes planus, Bro... OMIM:615222
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... OMIM:211369
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Short phalanx of finger, Short foot, Small hand, Short... OMIM:180870
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Abnormality of the metacarpal bones ORPHA:1078
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Short Stature-Obesity Syndrome
Limb undergrowth, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia OMIM:269870
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostos... OMIM:185900
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Short metacarpal, C... OMIM:605282
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Delayed pubic bone ossification, Limited elbow extension, Ab... ORPHA:1856
Humeroradial Synostosis
Humeroradial synostosis OMIM:143050
Epiphyseal Dysplasia, Multiple, 7
Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi... OMIM:617719
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Limited elbow extension, Metaphyseal chondrodysplasia,... OMIM:250230
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Cleidorhizomelic Syndrome
Short middle phalanx of the 5th finger, Rhizomelia, Clinodactyly of the 5th finger OMIM:119650
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Talipes, Elbow dislocation, Broad hallux phalanx, Hypoplas... ORPHA:2249
Metaphyseal Dysplasia, Spahr Type
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal dysplasia, Short lo... OMIM:250400
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Short metatarsal, Ulnar deviation of the hand, Acetabular dyspla... ORPHA:93307
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Lower limb asymmetry, Bilateral talip... OMIM:608571
Multiple Metaphyseal Dysplasia
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... ORPHA:93430
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Delayed ossification of carpal bones, Metaphyseal dysplasia, Genu varum OMIM:617974
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Rhizomelia, Short humerus, Coxa vara, Short metacarpal, Brac... ORPHA:2831
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Short phalanx of finger, Hypoplasia of the odontoid process, Micromelia, Sho... OMIM:250215
Symphalangism, C. S. Lewis Type
Synostosis involving the 1st metacarpal OMIM:185650
Metacarpal 4-5 Fusion
Fused fourth and fifth metacarpals OMIM:309630
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Gombo Syndrome
Clinodactyly, Brachydactyly, Radial deviation of finger OMIM:233270
Metachondromatosis
Abnormal joint morphology, Bowing of the long bones, Multiple enchondromatosis OMIM:156250
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Short metatarsal, Short phalanx of finger, Accelerated bone age after puberty, Short ... OMIM:190351
Hhhh Syndrome
Hemiatrophy OMIM:306960
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly OMIM:113300
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Abnormality of pelvic girdle bone morphology, Short finger, ... OMIM:259270
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Abnormality of the metacarpal bones, Joint stiffness, Micrognath... ORPHA:2496
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... OMIM:617102
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger ORPHA:1471
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia
Dislocated radial head, Radioulnar synostosis OMIM:266255
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of ... ORPHA:2141
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Short dista... OMIM:311300
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxity, Carpal b... OMIM:177170
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Pre... ORPHA:1540
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia OMIM:218550
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, Cervical sublux... OMIM:607095
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Flared fem... OMIM:609324
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Hypochondroplasia
Limited elbow extension, Aplasia/hypoplasia of the extremities, Short long bone, Flared metaphysi... OMIM:146000
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Pseudoepiphys... OMIM:105835
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bone, Coxa vara, Genu varum,... OMIM:618728
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Short palm, Micromelia ORPHA:168555
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Joint laxity, Metaphyseal irregularity, Pes planus, ... OMIM:610797
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Radioulnar synostosis, Upper limb asymmetry, Elbow ankylosis, Abnormal... ORPHA:3266
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankles, Tarsal synostosis, Abnormality of the wrist, Carpal synostosis ORPHA:2010
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... OMIM:113470
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Multiple Synostoses Syndrome
Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Symphalangism aff... ORPHA:3237
Acromicric Dysplasia
Abnormality of femur morphology, Abnormality of epiphysis morphology, Fifth metacarpal with ulnar... ORPHA:969
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Split h... OMIM:171480
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand OMIM:277150
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis Dissecans, Genu varum OMIM:259200
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Micrognathia, Short distal phalanx of finger,... OMIM:311895
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology ORPHA:228190
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Delayed skeletal maturation, Short thumb, Short metacarpal ORPHA:2489
Symphalangism, Distal
Craniosynostosis, Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin cr... OMIM:185700
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Desbuquois Dysplasia 1
Short metatarsal, Joint laxity, Pes planus, Phalangeal dislocation, Broad first metatarsal, Sanda... OMIM:251450
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation, Delayed skeletal maturation, Avascular necrosis ORPHA:2380
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short foot, Brachydactyly, Short metacarpal, Micrognathia, Patellar dislo... OMIM:614078
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Micromelia ORPHA:2252
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Genochondromatosis Type 1
Abnormality of the knee, Multiple enchondromatosis ORPHA:85197
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... ORPHA:52056
Pseudopseudohypoparathyroidism
Osteoporosis, Brachydactyly, Short metatarsal, Short metacarpal OMIM:612463
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of toe, Short 1st metacarpal, Single transverse palmar crease, Short distal ... OMIM:601957
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Adducted thumb, Sandal gap, Ulnar deviation of the wrist, Bra... OMIM:618435
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Metaphyseal Acroscyphodysplasia
Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Abnormal diaphy... ORPHA:1240
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Short metacarpal ORPHA:261524
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short finger, Short 5th metacarpal, Short toe, Clinodactyly of the 5th finger, Brachydactyly OMIM:604381
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Lower limb undergrowth, Short phalanx of finger, Short lowe... OMIM:127200
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Brachydactyly, Limb undergrowth, Micromelia OMIM:122900
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of the ankles, Abnormality of... ORPHA:166002
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Absent forearm, Overlapping toe, Fibular hypoplasia, Clinodact... OMIM:201170
Acromesomelic Dysplasia, Maroteaux Type
Radial bowing, Limited elbow extension, Hypoplasia of the radius, Short metatarsal, Short phalanx... OMIM:602875
Blount Disease
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... ORPHA:2768
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Saul-Wilson Syndrome
Talipes equinovarus, Short metatarsal, Short distal phalanx of finger, Flared metaphysis, Short m... OMIM:618150
Hypochondroplasia
Short toe, Abnormality of the elbow, Bowing of the long bones, Genu varum, Abnormality of femur m... ORPHA:429
Spondylometaphyseal Dysplasia, Corner Fracture Type
Metaphyseal irregularity, Coxa vara, Genu varum, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short middle phalanx of the 2nd finger, Short 5th metacarpal, Metaphyseal dysplasia, Osteoporosis... OMIM:156510
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short metacarpal, Short thumb, Duplication of the distal phalanx of the 5th finger, Abnormality o... ORPHA:973
Satoyoshi Syndrome
Genu valgum, Short metatarsal, Pes planus, Short metacarpal, Brachydactyly, Osteolytic defects of... OMIM:600705
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Short phalanx of finger, Distal symphalan... OMIM:606895
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Autosomal Dominant Omodysplasia
Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Micrognathia, Patellar disloc... ORPHA:93328
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Short l... ORPHA:2256
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Short proximal phalanx of finger, Short metatarsal, Short middle phalanx of finger, Aplasia/Hypop... OMIM:613627
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Joint laxity, Flared metaphysis, Carpal synostosis, Talipe... OMIM:615349
Brachydactyly Type A4
Short middle phalanx of the 2nd finger, Shortening of all middle phalanges of the toes, Symphalan... ORPHA:93394
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Knee pain, Short long bone, Coxa vara, Av... ORPHA:93308
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Abnormality of the wrist... ORPHA:93316
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasia, Pes planus, Hypoplasia ... OMIM:618395
Muenke Syndrome
Broad thumb, Short middle phalanx of finger, Capitate-hamate fusion, Thimble-shaped middle phalan... OMIM:602849
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Acrodysostosis 2 With Or Without Hormone Resistance
Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, Cone-shaped epiphysis... OMIM:614613
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... ORPHA:2756
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Broad thumb, Short phalanx of finger, Enlar... OMIM:255980
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap OMIM:612916
Chromosome 16P13.3 Duplication Syndrome
Short phalanx of finger, Camptodactyly, Pes cavus, Short toe, Hip dislocation, Tapered finger, Pr... OMIM:613458
Isolated Brachycephaly
Metacarpal synostosis, Brachydactyly ORPHA:35099
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphol... ORPHA:1822
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Juberg-Hayward Syndrome
Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Abnorma... OMIM:216100
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology,... ORPHA:2928
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga OMIM:132450
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Rhizomelic Chondrodysplasia Punctata, Type 2
Stippled calcification proximal humeral epiphyses, Rhizomelia, Short humerus, Failure to thrive, ... OMIM:222765
Epiphyseal Dysplasia, Multiple, 2
Irregular epiphyses, Epiphyseal dysplasia, Flattened epiphysis, Small epiphyses, Genu varum, Knee... OMIM:600204
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Carpal synostosis, Coronal craniosynostosis... ORPHA:53271
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Short proximal phalanx of finger, Short finger, Short metacarpal, Short toe, Brachydactyly OMIM:191482
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Second Metatarsal-Metacarpal Syndrome
Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Talonavicular Coalition
Short hallux, Abnormality of the ankles, Foot pain, Proximal/middle symphalangism of 5th finger, ... OMIM:186750
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th finge... ORPHA:3268
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Short palm, Bowing of the legs, Antecubital pterygium, Short femoral neck, Equinova... ORPHA:2502
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Joint contracture of the hand, Micromelia OMIM:601016
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Micrognathia, Hypoplasia of the ulna, Decreased body weight ORPHA:357175
Platyspondylic Dysplasia, Torrance Type
Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing of the long bon... ORPHA:85166
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Craniosynostosis, Finger syndactyly, ... ORPHA:3210
Tetrasomy X
Hip dysplasia, Radioulnar synostosis, Joint hyperflexibility, Clinodactyly of the 5th finger, Bra... ORPHA:9
Osteochondrosis Of The Tarsal Bone
Chondritis, Flattening of the talar dome, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal ... ORPHA:563991
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short... ORPHA:1113
Spondyloepiphyseal Dysplasia, Kimberley Type
Micromelia, Abnormality of epiphysis morphology ORPHA:93283
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Postaxial oligodactyly, Carpal synostosis OMIM:609428
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Mesomelia, Syndactyly, Hypoplasia of the ulna OMIM:228940
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Micrognathia, Bowing of th... OMIM:249710
Wt Limb-Blood Syndrome
Short phalanx of finger, Radioulnar synostosis, Micrognathia, Joint contracture of the 5th finger... OMIM:194350
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Iliac crest serration, Flat ... OMIM:223800
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Foot oligodactyly... OMIM:206920
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... OMIM:156500
Multiple Osteochondromas
Radial bowing, Genu valgum, Abnormality of tibia morphology, Elbow dislocation, Madelung deformit... ORPHA:321
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Clinodactyly, Cutaneous finger syndactyly, Joint contr... OMIM:148820
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Genu recurvatum, D... OMIM:184260
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Cardiospondylocarpofacial Syndrome
Brachydactyly, Short palm, Synostosis of carpal bones ORPHA:3238
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Brachydactyly, Metaphys... ORPHA:440354
Eiken Syndrome
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Decreased... OMIM:600002
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... OMIM:608940
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Pes planus, Positi... ORPHA:566943
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Aplasia/Hypoplasia of the radius, Fi... ORPHA:1788
Hand-Foot-Genital Syndrome
Short hallux, Postaxial hand polydactyly, Synostosis of carpal bones, Hallux varus, Short 1st met... ORPHA:2438
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Mental Retardation, Autosomal Recessive 35
Clinodactyly, Micrognathia, Hypoplasia of the ulna, Decreased body weight OMIM:615162
Ruvalcaba Syndrome
Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Abnormality of the elb... ORPHA:3121
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Limb undergrowth, Short long bone, Micrognathia, Micromelia ORPHA:1423
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad phalanx, Broad metatarsal, Micrognathia, Prominent metopic ridge OMIM:275595
Prenatal Bowing
Bowing of the long bones OMIM:264050
Mental Retardation, X-Linked 91
Cubitus valgus, Clinodactyly, Small hand, Short foot, Short 5th finger OMIM:300577
Nicolaides-Baraitser Syndrome
Short metatarsal, Short phalanx of finger, Sandal gap, Prominent interphalangeal joints, Short me... OMIM:601358
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Talipes, Elbow ankylosis, Hypoplasia ... ORPHA:2557
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of finger, Synostosis of carpal bones, Cutaneous finger synd... ORPHA:896
Atelosteogenesis, Type I
Radial bowing, Club-shaped proximal femur, Fibular aplasia, Short femur, Short metatarsal, Elbow ... OMIM:108720
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Hypoplastic pelvis, Carpal bone hypopla... OMIM:304950
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Laron Syndrome
Short long bone, Limb undergrowth, Delayed menarche OMIM:262500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Shortening of all phalanges of fingers, Mesomelia, Limb undergrowth, Shortening of... OMIM:601356
Acrodysostosis
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Irregular menstruati... ORPHA:950
Otofacioosseous-Gonadal Syndrome
Short hallux, Genu valgum, Wormian bones, Carpal synostosis, Talipes equinovarus, Delayed skeleta... OMIM:601976
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Irregular patellae, Patellar hypoplasia, Genu varum, Short femoral neck, Epiphyseal dysplasia, Br... OMIM:609325
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu valgum, Metaphyseal irregularity, Coxa vara, Abnormality of the wrist, Hypoplasia of the odo... ORPHA:93315
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth OMIM:218650
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density, ... OMIM:166740
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Metaphyseal irregularity, Joint laxity, Carpal bone hypoplasia, Long ... OMIM:603546
2q37 monosomy
Brachydactyly DECIPHER:44
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Syndactyly, Azoospermia, 2-4 toe syndactyly 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
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Small f... OMIM:607143
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Rhizomelia, Hypoplastic scapulae, Short humeru... OMIM:602471
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Hand-Foot-Genital Syndrome
Short hallux, Small thenar eminence, Hallux varus, Delayed ossification of carpal bones, Short 1s... OMIM:140000
Otoonychoperoneal Syndrome
Hip contracture, Aplasia/Hypoplasia of the fibula, Ankle flexion contracture, Knee flexion contra... OMIM:259780
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb ORPHA:435804
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Craniofacial hyperostosis, Bowing of the long bones, Abnormal co... ORPHA:1802
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Pes cavus, Carpal oste... OMIM:166300
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Decreased hip abduction, Flared iliac wing, Rhizomelia... OMIM:183849
Craniosynostosis 3
Brachydactyly, Hallux valgus, Single transverse palmar crease OMIM:615314
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Brachydactyly OMIM:618392
Trichorhinophalangeal Syndrome Type 1 And 3
Camptodactyly of finger, Short metatarsal, Micrognathia, Shortening of all phalanges of fingers, ... ORPHA:77258
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones OMIM:165590
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Joint laxity, Cone-shaped epiphysis, Synostosis of carpals/tarsals, Short foot... OMIM:157800
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Toe clinodactyly, S... ORPHA:457395
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Scapular winging, Short metatarsal, Short phalanx of finger, Toe syndactyl... OMIM:170390
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Flat acetabular roof, Sc... OMIM:271530
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Abnormality of epiphysis morphology, Hip osteoarthritis, Short middle phalanx of f... ORPHA:63442
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... ORPHA:93333
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe, Pes planus, Delayed ossif... OMIM:609616
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteoporotic tarsals, B... OMIM:609052
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Irregular epiphyses, Narrow iliac wing, Hypoplastic pubic bone, Short lo... OMIM:608728
Chromosome 2Q37 Deletion Syndrome
Short metatarsal, Short phalanx of finger, Short metacarpal, Short toe OMIM:600430
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Dislocated radial head, Camptodactyly of finger, Short phalanx of finger, Joint laxity, Pes planu... OMIM:612350
Arthrogryposis, Distal, Type 7
Cutaneous syndactyly of toes, Arthrogryposis multiplex congenita, Micrognathia, Metatarsus adduct... OMIM:158300
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1795
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Upper limb undergrowth, Short metatarsal, Short phalanx of finge... ORPHA:439822
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Flattened metatarsal heads, Congenital finger flexion contractures, Flattened metacarpal heads, C... OMIM:208250
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... OMIM:613091
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Syndactyly, Abnormal hip bone morphology, Upper limb phocomelia ORPHA:294975
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Heart-Hand Syndrome Type 3
Short middle phalanx of finger, Short toe, Brachydactyly, Abnormality of the metacarpal bones ORPHA:1342
Nievergelt Syndrome
Genu valgum, Tarsal synostosis, Radioulnar synostosis, Mesomelia, Radial head subluxation, Talipe... OMIM:163400
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
Immunodeficiency 43
Radial bowing, Hypoplasia of the ulna OMIM:241600
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Camptodactyly of finger, Short foot, Short distal phalanx of finger, Aplasi... ORPHA:3201
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality of epiphysis morphology, Bowing of the l... ORPHA:2501
Pfeiffer Syndrome
Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Symphalangism affectin... ORPHA:710
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthritis, Osteopenia... ORPHA:2619
Congenital Varicella Syndrome
Micromelia ORPHA:291
Acrocapitofemoral Dysplasia
Flared iliac wing, Short palm, Cone-shaped epiphysis, Coxa vara, Genu varum, Abnormal femoral nec... ORPHA:63446
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Solitary Bone Cyst
Abnormal ilium morphology, Prominent calcaneus, Abnormality of tibia morphology, Abnormality of t... ORPHA:83468
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Synostosis of carp... ORPHA:3258
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Slender long bones with narrow diaphyses, Disharmonious carpal bone,... OMIM:608154
Kyphomelic Dysplasia
Bowing of the long bones, Large hands, Flat acetabular roof, Abnormality of the metaphysis, Micro... ORPHA:1801
Craniosynostosis, Philadelphia Type
Craniosynostosis, Finger syndactyly ORPHA:1527
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Aplasia/Hypoplasia of the capital femoral epiphysis, Enlarged joints, Large tarsal bones, Short p... OMIM:215150
Chst3-Related Skeletal Dysplasia
Genu valgum, Cubitus valgus, Enlarged joints, Rhizomelia, Irregular epiphyses, Abnormality of the... ORPHA:263463
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypoplastic ischia, Syndactyly, Microgna... OMIM:617866
Shox-Related Short Stature
Genu valgum, Cubitus valgus, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Abnormal hip bone morphol... ORPHA:1323
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs, Cortical irregula... OMIM:114000
Cono-Spondylar Dysplasia
Short humerus, Short 4th toe, Failure to thrive, Short lower limbs, Cone-shaped epiphyses of the ... ORPHA:420794
Smith-Mccort Dysplasia 1
Genu valgum, Multicentric femoral head ossification, Short phalanx of finger, Metaphyseal irregul... OMIM:607326
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Multiple joint dislocation, Hip subluxation, Joint laxity, Metaphyseal irregularity, Delayed epip... ORPHA:93360
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Short ribs, Flared metaphysis, Advanced ossifi... OMIM:215045
Frontometaphyseal Dysplasia 1
Genu valgum, Camptodactyly of finger, Scapular winging, Long foot, Fused cervical vertebrae, Part... OMIM:305620
Marinesco-Sjogren Syndrome
Cubitus valgus, Short metatarsal, Pes planus, Flexion contracture, Short metacarpal, Coxa valga OMIM:248800
Cooks Syndrome
Split hand, Triphalangeal thumb, Broad thumb, Brachydactyly ORPHA:1487
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Rhizomelia, Short humerus, Short ribs, Short clavicles, Short femoral neck, Prominent deltoid tub... OMIM:610319
Tricho-Retino-Dento-Digital Syndrome
Short 5th metacarpal, Brachydactyly, Abnormality of the hand ORPHA:1264
Mesomelia-Synostoses Syndrome
Short umbilical cord, Microretrognathia, Metacarpal synostosis, Mesomelia, Partial fusion of prox... OMIM:600383
Robin Sequence With Cleft Mandible And Limb Anomalies
Radial deviation of the hand, Hypoplasia of the radius, Hip subluxation, Short phalanx of finger,... OMIM:268305
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Coxoauricular Syndrome
Hip dislocation, Abnormality of pelvic girdle bone morphology, Micromelia, Abnormality of femur m... ORPHA:1508
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Roifman-Chitayat Syndrome
Short metatarsal, Cone-shaped epiphysis, Umbilical hernia, Short metacarpal, Osteopenia, Arthritis OMIM:613328
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Short metacarpal OMIM:603233
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Hypoplasia of the radius, Short thumb, Distally placed thumb OMIM:179270
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... OMIM:251230
Seckel Syndrome 7
Hip dysplasia, Madelung deformity, Clinodactyly, Abnormality of the carpal bones, Delayed skeleta... OMIM:614851
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Proximal placement of thumb, Absent radius, Hand polydactyly, Short humerus OMIM:314390
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Cutaneous finger syndactyly, Spina bifida occulta at S1, Hypoplasia of the ... OMIM:601829
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachydactyly, Short metatarsal, Short metacarpal OMIM:617157
Vertical Talus, Congenital
Rocker bottom foot, Calcaneovalgus deformity, Equinus calcaneus, Arthritis OMIM:192950
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Hypermobility of interphalangeal joints, 2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Femoral-Facial Syndrome
Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/Hypoplasia ... ORPHA:1988
Humeroradial Synostosis With Craniofacial Anomalies
Humeroradial synostosis, Tarsal synostosis, Carpal synostosis OMIM:236410
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Camptodactyly of finger, Absent Achilles reflex, Intrinsic hand muscle atrophy, Peroneal muscle a... ORPHA:324442
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Cubitus valgus, Short toe, Short phalanx of finger, Tapered metacarpals, Single interphalangeal c... OMIM:611717
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Frontometaphyseal Dysplasia
Limited wrist movement, Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger,... ORPHA:1826
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Enlarged joints, Carpal bone hypoplasia, Delayed skeletal maturation, ... OMIM:184252
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Short metatarsal, Short phalanx of finger, Short metacarpal, Short toe OMIM:211370
Otospondylomegaepiphyseal Dysplasia
Dumbbell-shaped femur, Abnormality of long bone morphology, Enlarged joints, Short phalanx of fin... ORPHA:1427
Summitt Syndrome
Craniosynostosis, Syndactyly OMIM:272350
Arthrogryposis, Distal, Type 1A
Overlapping fingers, Rocker bottom foot, Arthrogryposis multiplex congenita, Decreased hip abduct... OMIM:108120
Weismann-Netter Syndrome
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... ORPHA:3344
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Patellar dislocation, Elbow dislocati... ORPHA:56305
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, Thickened co... ORPHA:53697
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Brachydactyly, Short distal phalanx of finger ORPHA:2787
Feingold Syndrome Type 2
Short middle phalanx of finger, Brachydactyly, Toe syndactyly, Short thumb ORPHA:391646
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Micrognathia, Short 1st ... OMIM:619135
Zechi-Ceide Syndrome
Short distal phalanx of finger, Long foot, Short metatarsal, Sandal gap ORPHA:217017
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Microcephaly 13, Primary, Autosomal Recessive
Metaphyseal sclerosis, Micrognathia, Small hand, Short foot OMIM:616051
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Abnormal hand morphology, Small hand, Short foot OMIM:300261
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Short toe, Short metatarsal, Short finger, Short metacarpal, Brachydactyly OMIM:103580
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... OMIM:304120
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Short middle phalanx of finger, Hitchhiker thumb, Short greater sciatic no... OMIM:256050
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Hypoplastic scapulae, Shortening of all phal... OMIM:114290
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypoplastic sacrum, Short metatarsal, Hypoplastic pelvis, Cone-shaped epiphysis, Short distal pha... OMIM:614813
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Multiple pterygia, Craniosynostosis, Tarsal synostosis, Arthrogryposis multiplex congenita, Campt... OMIM:178110
Cohen Syndrome
Genu valgum, Cubitus valgus, Joint hypermobility, Short metatarsal, Pes planus, Narrow palm, Sing... OMIM:216550
Seckel Syndrome 1
Dislocated radial head, Hypoplasia of proximal fibula, Talipes, Pes planus, Elbow flexion contrac... OMIM:210600