Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 17
Synonyms:
AU023434

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 Adamts17 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 Adamts17 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Weill-Marchesani Syndrome 4
Brachydactyly OMIM:613195

The table below shows human diseases predicted to be associated to Adamts17 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Brachydactyly, Type A1
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... OMIM:112500
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Hypoplasia of the ulna, Valgus hand deformity, Flexion contracture, Fi... OMIM:200700
Brachydactyly, Type A1, D
Short distal phalanx of the thumb, Short proximal phalanx of finger, Clinodactyly of the 5th fing... OMIM:616849
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Platyspondyly, Short humerus, Deformed humeral heads... OMIM:601438
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Scoliosis, Abnormality of femoral epiphysis, Irregular carpal ... ORPHA:750
Brachydactyly Type A2
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Short tibia, Lim... OMIM:118651
Brachydactyly, Type A1, B
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... OMIM:607004
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Short lo... OMIM:611702
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Multiple Epiphyseal Dysplasia With Robin Phenotype
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... OMIM:601560
Wahab Syndrome
Clinodactyly, Short palm, Short metacarpal, Short thumb, Adducted thumb, Camptodactyly, Short foo... OMIM:615170
Heyn-Sproul-Jackson Syndrome
Decreased body weight, Short metacarpal, 11 pairs of ribs, Short phalanx of finger, Microcephaly,... OMIM:618724
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... OMIM:112700
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Clinodactyly, 2-5 finger cutaneous syndactyly, Symphalangism affecting the phalang... ORPHA:3246
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Short femur OMIM:600121
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Mesomelia, S... OMIM:611263
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Ovoid vertebral bodies,... OMIM:132400
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Abnormal form of the vertebral bodies, Deviation of finger, Short metacarpal, Rhiz... ORPHA:2831
Brachydactyly, Type A1, C
Brachydactyly, Bilateral talipes equinovarus, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Acromicric Dysplasia
Ovoid vertebral bodies, Short palm, Long eyelashes, Short metacarpal, Cone-shaped epiphysis, Shor... OMIM:102370
Sugarman Brachydactyly
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... OMIM:272150
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, P... OMIM:619598
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Delayed ossification of carpal bones, Short femora... OMIM:607078
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Limit... OMIM:146000
Brachydactyly, Combined B And E Types
Brachydactyly, Short 5th metacarpal, Short 4th metacarpal, Short 5th finger, Short thumb, Broad d... OMIM:112440
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Short middle ph... ORPHA:1453
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger OMIM:112410
Epiphyseal Dysplasia, Multiple, 3
Irregular epiphyses, Short metacarpal, Mildly elevated creatine kinase, Limited knee extension, A... OMIM:600969
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Brachydactyly, Type A4
Talipes calcaneovalgus, Type A brachydactyly, Congenital talipes calcaneovalgus, Short middle pha... OMIM:112800
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... OMIM:606835
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Flexion contracture, Rhizomelia, Micrognathia, Micr... OMIM:222765
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Irregular capital femoral epiphy... OMIM:616716
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips, Microcephaly, Clinodac... OMIM:211369
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Brachydactyly Type E
Upper limb asymmetry, Type E brachydactyly, Short metacarpal, Aplasia/Hypoplasia of the distal ph... ORPHA:93387
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short 5th metacarpal, Single transverse palmar cr... ORPHA:370010
Thiemann Disease, Familial Form
Brachydactyly, Abnormality of the metaphysis, Abnormality of epiphysis morphology ORPHA:3314
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Acromicric Dysplasia
Brachydactyly, Ovoid vertebral bodies, Short palm, Abnormality of epiphysis morphology, Long eyel... ORPHA:969
Brachydactyly Type B
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:93383
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Micromelia, Scoliosis,... OMIM:184260
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Broad middle phalanx of finger, Delayed ossification of carpal bones, Clinodactyly of the 5th fin... OMIM:182255
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short metacarpal, Short phalanx of finger ORPHA:1276
Ruvalcaba Syndrome
Kyphosis, Short palm, Short metacarpal, Short phalanx of finger, Micromelia, Limited elbow extens... OMIM:180870
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Short palm, Short metacarpal, Upper limb undergrowth, Broad femoral neck, Bro... OMIM:271650
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... ORPHA:2098
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Short metacarpal, Sho... ORPHA:968
Omodysplasia 2
Dislocated radial head, Rhizomelic arm shortening, Limited elbow flexion, Short humerus, Short 1s... OMIM:164745
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Decreased body weight, Short neck, Short metacarpa... OMIM:615222
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Camptodactyly of finger, Short distal phalanx of finger, Broad thumb ORPHA:1471
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... OMIM:609052
Gombo Syndrome
Brachydactyly, Clinodactyly, Microcephaly, Radial deviation of finger OMIM:233270
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short 5th metacarpal, Short mi... ORPHA:93409
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Short thumb, Short distal phalanx of finger, Hitchhiker thumb, Sh... OMIM:112450
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Microcephaly, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the ul... ORPHA:2491
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Brachydactyly-Distal Symphalangism Syndrome
Type A1 brachydactyly, Single transverse palmar crease, Aplasia of the middle phalanx of the hand... OMIM:113450
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Short palm, Cone-shaped epiphys... ORPHA:3237
Long-Thumb Brachydactyly Syndrome
Brachydactyly, Short finger, Long thumb OMIM:112430
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Aplasia/Hypoplasia of the thumb, Sh... ORPHA:1350
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Type A brachydactyly, Abnormal thumb morphology, Obesity, Abnormal metacarpal morphology ORPHA:1078
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bodies, Short... OMIM:608940
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short 5th metacarpal, Multiple small vertebral fractures, Platyspondyly, Flared metaphysis, Short... OMIM:156510
Brachydactyly Type C
Symphalangism affecting the phalanges of the hand, Metatarsus valgus, Pseudoepiphysis of the 2nd ... ORPHA:93384
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Fibular hypoplasia, Broad pa... ORPHA:79106
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal form of the ve... ORPHA:3098
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Short neck, Rhizomelia, Cervical subluxation... OMIM:607095
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Radial club hand, Short metacarpal, Thick eyebrow, Micrognathia, Preaxial hand pol... ORPHA:1278
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, 11 pairs of ribs, Thoracic platyspondyly,... OMIM:108720
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Webbed neck, Flattened epiphysis, Short femoral neck, Dislocated ... OMIM:612350
Pseudopseudohypoparathyroidism
Brachydactyly, Short 5th metacarpal, Short distal phalanx of the thumb, Short 4th metacarpal, Sho... ORPHA:79445
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Ovoid vertebral bodies, Kyphosis, Abnorma... ORPHA:40
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Exostoses, Multiple, Type Ii
Short metacarpal, Protuberances at ends of long bones, Pelvic bone exostoses, Genu valgum, Madelu... OMIM:133701
Exostoses, Multiple, Type I
Short metacarpal, Protuberances at ends of long bones, Pelvic bone exostoses, Genu valgum, Madelu... OMIM:133700
Symbrachydactyly Of Hands And Feet
Vertebral segmentation defect, Abnormality of the ulna, Abnormality of the humeroulnar joint, Apl... ORPHA:1570
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Madelun... OMIM:249700
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Nicolaides-Baraitser Syndrome
Brachydactyly, Short metacarpal, Sandal gap, Short phalanx of finger, Sparse scalp hair, Absent e... OMIM:601358
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae OMIM:609655
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae ORPHA:50809
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Short toe, Short nail, Ovoid vertebral bodies, Cone-shape... OMIM:602875
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Pedal edema, Arthralgia of the hip, Gen... ORPHA:166011
Cono-Spondylar Dysplasia
Brachydactyly, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Failure ... ORPHA:420794
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb OMIM:176305
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Brachyolmia Type 1, Hobaek Type
Short neck, Kyphosis, Short femoral neck, Intervertebral space narrowing, Back pain, Sclerotic fo... OMIM:271530
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... OMIM:609616
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Acne, Platyspondyly, Lower limb undergrowth, Irregular vertebr... OMIM:612847
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Bilateral talipes equinovarus, Shortening of all phalanges of fingers, Platyspondyly, Limb underg... OMIM:601356
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Broad palm, Rhizomelic arm shortening, Mi... OMIM:223800
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Trichorhinophalangeal Syndrome, Type Iii
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Short palm,... OMIM:190351
Sillence Syndrome
Abnormal distal phalanx morphology of finger, Slender build, Aplasia of the middle phalanx of the... ORPHA:3168
Paternal Uniparental Disomy Of Chromosome X
Short metacarpal, Short neck, Cubitus valgus, Low posterior hairline ORPHA:261524
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Brachydactyly-Syndactyly Syndrome
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... OMIM:610713
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radiu... ORPHA:75508
Acromesomelic Dysplasia 2B
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Short metacarpal, ... OMIM:228900
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Fibular hypoplasia, 11 pairs of ribs, Triphalangea... OMIM:201170
Anauxetic Dysplasia 2
Brachydactyly, Coxa valga, Short neck, Hypoplasia of the femoral head, Short femoral neck, Ovoid ... OMIM:617396
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Summitt Syndrome
Brachydactyly, Finger syndactyly, Short palm, Short 4th metacarpal, Clinodactyly of the 5th finge... ORPHA:3210
Metaphyseal Chondrodysplasia, Kaitila Type
Finger joint hypermobility, Metaphyseal irregularity, Delayed proximal femoral epiphyseal ossific... OMIM:250230
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... OMIM:618167
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Flexion contracture, Abnormal form of the vertebral bodies, I... ORPHA:263463
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Upper-limb metaphyseal irregul... OMIM:618728
Congenital Disorder Of Glycosylation, Type Ig
Progressive microcephaly, Small for gestational age, Rhizomelia, Sandal gap, Short ribs, Hypoplas... OMIM:607143
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Thoracolumbar kyphoscoliosis, Short ... OMIM:618853
Brachydactyly Type A7
Short 2nd finger, Ulnar deviation of the 2nd finger, Absent middle phalanx of 2nd finger, Triangu... ORPHA:93397
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Pseudoarthrosis, Short tibia OMIM:156230
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta at S1, Pili torti, Short 4th metacarpal, Hypoplasia of the odontoid process,... OMIM:601829
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thoracic platyspondyly, Thick eyebrow, Sh... OMIM:619636
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Roifman Syndrome
Brachydactyly, Prominent eyelashes, Single transverse palmar crease, Short metacarpal, Clinodacty... OMIM:616651
Otospondylomegaepiphyseal Dysplasia
Brachydactyly, Coronal cleft vertebrae, Abnormal pelvis bone morphology, Short neck, Short metaca... ORPHA:1427
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Sandal gap, Overlapping fingers, Tapered finger, Broad hallux, Metat... OMIM:618435
Chromosome 8Q22.1 Duplication Syndrome
Brachydactyly, Cervical C2/C3 vertebral fusion, Short palm, Short metacarpal, Short phalanx of fi... OMIM:151200
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Curly eyelashes, Hypoplastic iliac wing, Short toe, Brac... OMIM:611717
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... ORPHA:52056
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Short long bone, Flexion contracture, Short palm, Short metacarpal, Larg... OMIM:215150
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Amelogenesis imperfecta, Pes planus, Micrognathia, Inguinal hernia, Scol... OMIM:618363
Feingold Syndrome Type 2
Brachydactyly, Toe syndactyly, Short thumb, Microcephaly, Short middle phalanx of finger ORPHA:391646
Syndactyly, Type V
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... OMIM:186300
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta, Prominent deltoid tuberosities, Short neck, Short femoral neck, Rhizomel... OMIM:610319
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Abnormal morphology of ulna, Short tibia, Sho... ORPHA:93323
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Microcephaly, Short tibia, Short femur,... OMIM:612447
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Obesi... OMIM:614613
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Short metacarpal, Micrognathia, Patellar dislocation, Short toe, Genu valgum, Shor... OMIM:614078
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Thoracic kyphosis, Hypoplastic sacrum, Short neck, Short femoral neck, Cone-s... OMIM:304950
Desbuquois Dysplasia 2
Genu varum, Pes planus, Microcephaly, Metaphyseal widening, Broad thumb, Hip dislocation, Toe cli... OMIM:615777
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Kyphoscoliosis, Hypoplastic cervical... OMIM:222600
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Brachydactyly-Nystagmus-Cerebellar Ataxia
Brachydactyly, Short metacarpal, Short metatarsal OMIM:113400
Autosomal Dominant Omodysplasia
Short palm, Rhizomelia, Elbow dislocation, Micrognathia, Patellar dislocation, Short humerus, Sho... ORPHA:93328
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Decreased body weight, Delayed ossification of carpal bones, Kyphosis, Small for g... OMIM:618392
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Short femoral neck, Spinal stenosis ... OMIM:100800
Ruvalcaba Syndrome
Brachydactyly, Synostosis of carpal bones, Generalized hirsutism, Kyphosis, Short metacarpal, Cli... ORPHA:3121
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Short finger, Short toe, Pili ... OMIM:191482
Saul-Wilson Syndrome
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Micrognathia, P... OMIM:618150
Syndactyly Type 5
3-4 finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short distal phalanx o... ORPHA:93406
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Short metacarpal, Short thumb ORPHA:2489
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Absen... OMIM:120400
Nasodigitoacoustic syndrome
Enlarged epiphyses, Short phalanx of finger, Broad hallux, Broad distal phalanx of finger, Rounde... OMIM:255980
Chromosome 15Q13.3 Deletion Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Synophrys OMIM:612001
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Stuve-Wiedemann Syndrome 1
Talipes, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Single transverse palmar... OMIM:601559
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Ectrodac... ORPHA:2878
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short neck, Multiple palmar creases, Preaxial polydactyly, Oligoda... ORPHA:2756
Brachydactyly, Type E2
Brachydactyly, Short metacarpal, Short metatarsal OMIM:613382
Pseudopseudohypoparathyroidism
Brachydactyly, Short neck, Enamel hypoplasia, Short metacarpal, Obesity, Short metatarsal OMIM:612463
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... OMIM:617102
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormal form of the vertebral bodie... ORPHA:2370
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Tetrasomy X
Brachydactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia ORPHA:9
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Marinesco-Sjogren Syndrome
Coxa valga, Kyphosis, Flexion contracture, Short metacarpal, Pes planus, Microcephaly, Elevated c... OMIM:248800
Brachydactyly, Type A2
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... OMIM:112600
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Bardet-Biedl Syndrome 5
Brachydactyly, Obesity, Syndactyly, Polydactyly OMIM:615983
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Short phalanx of finger, Pes cavus, Long fingers, Proximal placement of thumb, Sh... OMIM:613458
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... OMIM:617604
Atelosteogenesis Type Ii
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviati... ORPHA:56304
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Absent radius, Hand polydactyly, Abnormal vertebral morpholo... OMIM:314390
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Hernia of the abdominal wall, Micrognathia, Mesomelia, Abnormal shoulder morphology ORPHA:1277
Tarsal-Carpal Coalition Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Progressive fusion 2nd-5th pip joints, Distal sym... OMIM:186570
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Satoyoshi Syndrome
Brachydactyly, Short metacarpal, Pes planus, Mildly elevated creatine kinase, Osteolytic defects ... OMIM:600705
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Achondroplasia
Hip joint hypermobility, Spinal canal stenosis, Narrow greater sciatic notch, Macrocephaly, Brach... ORPHA:15
Wt Limb-Blood Syndrome
Absent thumb, Clinodactyly of the 5th finger, Short phalanx of finger, Short thumb, Joint contrac... OMIM:194350
Leri Pleonosteosis
Brachydactyly, Abnormally straight spine, Abnormal form of the vertebral bodies, Abnormality of e... ORPHA:2900
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Pde4D Haploinsufficiency Syndrome
Brachydactyly, Bilateral coxa valga, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fi... ORPHA:439822
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Brachydactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, Short finger, Short toe OMIM:604381
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Brachydactyly, Short distal phalanx of finger, Microcephaly ORPHA:2787
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Brachydactyly, Coxa valga, Short phalanx of finger, Genu valgum, Epiphyseal dysplasia OMIM:132450
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Thoracic scoliosis, Decreased body weight, Joint contracture of the ... OMIM:600325
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Flexion contracture, Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Hypoplastic s... OMIM:602471
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Ap... ORPHA:1113
Codas Syndrome
Pes valgus, Coronal cleft vertebrae, Delayed ossification of carpal bones, Absent epiphyses, Enam... OMIM:600373
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Pes planus, Sandal gap, Broad femoral neck, Scoliosis, Short ... OMIM:251450
Eng-Strom Syndrome
Brachydactyly, Camptodactyly of finger, Scoliosis ORPHA:1937
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Microcephaly, Large hands, Hip dislocation... OMIM:210710
Czech Dysplasia
Flat capital femoral epiphysis, Narrow iliac wing, Narrow femoral neck, Thoracic kyphosis, Flexio... OMIM:609162
Trichorhinophalangeal Syndrome Type 1 And 3
Leukonychia, Shortening of all phalanges of fingers, Short metacarpal, Clinodactyly of the 5th fi... ORPHA:77258
Pelger-Huet Anomaly
Short 5th metacarpal, Kyphosis, Short 4th metacarpal, Upper limb undergrowth, Polydactyly, Eczema... OMIM:169400
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Brachydactyly, Clinodactyly, Widow's peak, Thick eyebrow, Short phalanx of finger, Small hand, Br... OMIM:614684
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal phalanx of finger, Eas... OMIM:311895
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Type E brachydactyly, Short 4th metacarpal, Short metatarsal OMIM:113301
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Scoliosis, Hip disloc... OMIM:311300
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Short neck, Short 3rd toe, M... OMIM:211920
Bardet-Biedl Syndrome 18
Brachydactyly, Obesity OMIM:615995
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Short tibia, Talipes equinoval... OMIM:605274
Cooks Syndrome
Brachydactyly, Triphalangeal thumb, Dystrophic toenail, Dystrophic fingernails, Broad thumb, Spli... ORPHA:1487
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Abnormal form of the vertebral bo... ORPHA:950
Heart-Hand Syndrome, Spanish Type
Brachydactyly, Ulnar deviation of the 2nd finger, Short middle phalanx of finger OMIM:140450
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Short long bone, Abnormality of t... ORPHA:93316
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the long bones, Bowing of the legs, Brachydactyly, Metaphyseal irregularity, Ovoid vert... ORPHA:85167
Brachydactyly Type B2
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... ORPHA:140908
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Micrognathia, Platyspondyly, Flared met... OMIM:211350
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short neck, Short 4th metacarpal, Obesity, Absent facial hair, Sparse facial hair, Cubitus valgus... ORPHA:2183
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Short metacarpal, Metacarpophalangeal synostosis, Tarsal synostosis, Aplasia/H... OMIM:186400
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Pes planus, Delayed pubic bone o... OMIM:184250
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Acropectorovertebral Dysplasia
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... OMIM:102510
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Irregular metacarpals, Short ribs, Spondylolysis... OMIM:304120
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachydactyly, Abnormal thumb morphology, Shagreen patch, Short palm, Cone-shaped epiphysis, Hype... ORPHA:2511
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Epiphyseal stippling of the humerus, Micrognathia,... ORPHA:56305
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Brachydactyly, Clinodactyly, Hypoplastic sacrum, Short femoral neck, Small for gestational age, S... OMIM:614813
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Webbed neck, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Postaxial foot polydac... OMIM:263540
2Q37 Microdeletion Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Short palm, Short neck, Short metacarpal, Clino... ORPHA:1001
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Short 5th metacarpal, Short 4th metacarpal, Rhizomelia, Pes planus, Platyspond... OMIM:619638
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology ORPHA:228190
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Highly arched eyebrow, Radiouln... OMIM:605282
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Decreased palmar creases, Small for gestational... ORPHA:2980
Chromosome 2Q37 Deletion Syndrome
Short metacarpal, Obesity, Short phalanx of finger, Highly arched eyebrow, Eczema, Short toe, Sho... OMIM:600430
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short neck, Short femoral neck, Short metacarpal, Proximal femoral epiphysiolysis, Thoracolumbar ... OMIM:616723
Wiedemann-Steiner Syndrome
Sacral dimple, Long eyelashes, Clinodactyly of the 5th finger, Thick eyebrow, Tapered finger, Sho... OMIM:605130
Linear Verrucous Nevus Syndrome
Toe syndactyly, Talipes, Short metacarpal, Scoliosis, Genu recurvatum, Sparse scalp hair, Macroce... ORPHA:2611
Emery-Nelson Syndrome
Brachydactyly, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Contractures of ... ORPHA:1927
Melnick-Needles Syndrome
Coarse hair, Frontal hirsutism, Pes planus, Micrognathia, Anterior concavity of thoracic vertebra... OMIM:309350
Cohen Syndrome
Thoracic scoliosis, Single transverse palmar crease, Small for gestational age, Short metacarpal,... OMIM:216550
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral
Short metacarpal, Short thumb, Duplication of the distal phalanx of the 5th finger, Short nail, A... ORPHA:973
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Small for gestational age, Micrognathia, Microcephaly, Failure to thrive, Short mi... OMIM:612626
Brachydactyly, Type E1
Brachydactyly, Type E brachydactyly, Short metacarpal, Short clavicles, Short metatarsal OMIM:113300
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Kyphosis, Enamel hypoplasia, Platyspondyly, Microcephaly, Failure to thrive, Scoli... OMIM:234250
Dwarfism With Stiff Joints And Ocular Abnormalities
Short lower limbs, Lower limb undergrowth, Short phalanx of finger, Delayed ossification of carpa... OMIM:127200
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short 4th metacarpal, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, Mic... ORPHA:3201
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Tarsal osteovalgus, Adducted thumb, Finger clinodactyly, Camptodactyly OMIM:614257
Microcephaly-Micromelia Syndrome
Short neck, Absent radius, Oligodactyly, Micrognathia, Micromelia, Microcephaly, Short tibia, Hum... OMIM:251230
Nicolaides-Baraitser Syndrome
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Hernia, Long eyelashes, Sandal ga... ORPHA:3051
Nivelon-Nivelon-Mabille Syndrome
Brachydactyly, Trapezoidal vertebral body, Short metacarpal, Short phalanx of finger, Microcephal... OMIM:600092
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Short tibia, Radial bowing OMIM:127350
Acrodysplasia Scoliosis
Brachydactyly, Vertebral segmentation defect, Spina bifida occulta, Scoliosis ORPHA:2956
Andersen Cardiodysrhythmic Periodic Paralysis
Brachydactyly, Toe syndactyly, Short palm, Enamel hypoplasia, Short metacarpal, Clinodactyly of t... OMIM:170390
Codas Syndrome
Brachydactyly, Coronal cleft vertebrae, Abnormality of pelvic girdle bone morphology, Abnormal fo... ORPHA:1458
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachydactyly, Short neck, Short metacarpal, Obesity, Microcephaly, Short metatarsal OMIM:617157
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly OMIM:610140
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Brachydactyly, Abnormal sacrum morphology, Scoliosis, Short middle phalanx of finger, Fused cervi... ORPHA:1436
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Macular scar, Kyphosis, Lateral femoral bowing, Relative macrocephaly, ... OMIM:239000
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Coxa valga, Failure to thrive in infancy, ... ORPHA:356961
Keipert Syndrome
Brachydactyly, Clinodactyly, Broad hallux, Broad distal phalanx of finger, Broad thumb, Macrocephaly OMIM:301026
Duane-Radial Ray Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... OMIM:607323
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Squared iliac bones, Bea... OMIM:618961
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Knee osteoarthritis, Abnormality of the ankles, Osteoarthritis of the elb... ORPHA:2619
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Short 5th metacarpal, ... OMIM:185800
Santos Syndrome
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... OMIM:613005
Moebius Syndrome
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Short neck, Pes planus... OMIM:157900
Symphalangism, Distal
Brachydactyly, Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal... OMIM:185700
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Postaxial Oligodactyly, Tetramelic
Single transverse palmar crease, Postaxial foot polydactyly, Partial-complete absence of 5th phal... OMIM:176240
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Short neck, Abnormal form of the vertebral bodies, Pili torti, Short 4th metac... ORPHA:1787
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Scoliosis, Hip d... ORPHA:1858
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Short ribs, Pla... ORPHA:2347
Cornelia De Lange Syndrome 2
Brachydactyly, Clinodactyly, Short neck, Long eyelashes, Thick eyebrow, Micrognathia, Highly arch... OMIM:300590
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Microcephaly, Hypoplastic iliac wing,... OMIM:609945
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
20Q11.2 Microdeletion Syndrome
Brachydactyly, Talipes calcaneovalgus, Adducted thumb, Finger clinodactyly, Camptodactyly ORPHA:444051
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Short toe, Narrow greater sciatic notch, Brac... OMIM:250220
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Pseudohypoparathyroidism, Type Ib
Brachydactyly, Obesity, Short metacarpal OMIM:603233
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Cutaneous syndactyly, Abnormal vertebral morphology, Spindle-shaped finger, Delayed... ORPHA:166024
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Single transverse palmar crease, Short neck, Short phalanx of finger, Cong... OMIM:114300
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Narrow iliac wing, Genu varum, Broad palm, Scoliosis, Metaphyseal widening, Genu valgum, Brachyda... OMIM:250420
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Brachydactyly, Toe syndactyly, Bilateral triphalangeal thumbs, Triphalangeal thumb, Nail dystroph... OMIM:124480
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Microcephaly, Micromelia, Limb undergrowth, Massively thickened long bone cortices... OMIM:122900
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Finger syndactyly, Short metacarpal, Sandal gap, Short phalanx of finger, Micrognathia, Failure t... OMIM:264475
Orofaciodigital Syndrome Xviii
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... OMIM:617927
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... OMIM:113310
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Single transverse palmar crease, Talipes, Small for gestational age, Fibu... OMIM:227270
Weyers Acrofacial Dysostosis
Brachydactyly, Short palm, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial ... OMIM:193530
Holoprosencephaly, Recurrent Infections, And Monocytosis
Brachydactyly, Recurrent skin infections, Tapered finger, Microcephaly, Failure to thrive, Short ... OMIM:610680
Dyssegmental Dysplasia With Glaucoma
Short long bone, Elbow flexion contracture, Platyspondyly, Flared metaphysis, Micromelia, Hip con... OMIM:601561
Schneckenbecken Dysplasia
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Short neck, Advan... OMIM:269250
Intellectual Developmental Disorder, Autosomal Dominant 59
Brachydactyly, Short palm, Highly arched eyebrow, Macrocephaly, Short foot OMIM:618522
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Acrocephalopolydactyly
Brachydactyly, Short neck, Genu recurvatum, Limb undergrowth, Short long bone ORPHA:221054
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Deformed radius, Inguinal hernia, Aplasia of the ulna, Short 4th t... OMIM:181450
Trichorhinophalangeal Syndrome, Type I
Flat capital femoral epiphysis, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the ... OMIM:190350
Proximal Symphalangism
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... ORPHA:3250
Tricho-Retino-Dento-Digital Syndrome
Brachydactyly, Short 5th metacarpal, Sparse hair, Uncombable hair, Abnormality of the hand ORPHA:1264
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Synostosis of carpal bones, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Fi... ORPHA:157801
Greenberg Dysplasia
Talipes, Hypoplastic vertebral bodies, 11 pairs of ribs, Broad palm, Micrognathia, Absent distal ... OMIM:215140
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... OMIM:610797
C Syndrome
Clinodactyly, Toe syndactyly, Postaxial foot polydactyly, Dislocated radial head, Short metacarpa... OMIM:211750
Muenke Syndrome
Brachydactyly, Clinodactyly, Thimble-shaped middle phalanges of hand, Cone-shaped epiphyses of th... OMIM:602849
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Obesity, Polydactyly... ORPHA:65759
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Shortening of all middle phalanges of the fing... OMIM:600593
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Bilateral coxa valga, Abnormal vertebral morphology, Abnormality of th... ORPHA:163665
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, Thoracic kyphosis, Short neck, Flexion contracture, Short fem... OMIM:300232
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Pes planus, 11 pairs of ribs, Micrognathia, Hallux valgus, Metaphyseal widenin... OMIM:271640
Phenobarbital Embryopathy
Brachydactyly, Microcephaly, Aplasia/Hypoplasia of fingers ORPHA:1919
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Pes planus, Narrow vertebral interpedicular distan... OMIM:143095
2q37 monosomy
Brachydactyly DECIPHER:44
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Elbow flexion contracture, Abnormality of epiphysis morphology, Radioulnar dislocation, Dislocate... ORPHA:93359
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Micromelia, Scoliosis, Broad long bones, Bowing of the legs, Short ribs, Short phal... OMIM:271665
Orofaciodigital Syndrome Ix
Toe syndactyly, Hand polydactyly, Microcephaly, Short tibia, Camptodactyly OMIM:258865
Non-Syndromic Bicoronal Craniosynostosis
Brachydactyly, Metacarpal synostosis ORPHA:35099
Alopecia-Intellectual Disability Syndrome
Brachydactyly, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse ... ORPHA:2850
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Nail dystrophy, Spl... OMIM:106990
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Talipes, Clinodactyly of the 5th finge... ORPHA:1836
Mesomelia-Synostoses Syndrome
Clinodactyly of the 5th finger, Micrognathia, Micromelia, Abnormality of the humerus, Genu valgum... ORPHA:2496
Pseudohypoparathyroidism, Type Ia
Brachydactyly, Short neck, Enamel hypoplasia, Short metacarpal, Obesity, Short finger, Short toe,... OMIM:103580
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Roifman Syndrome
Brachydactyly, Prominent eyelashes, Irregular capital femoral epiphysis, Delayed proximal femoral... ORPHA:353298
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Banki Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carp... ORPHA:1228
Erythrokeratodermia Variabilis
Brachydactyly, Generalized hirsutism, Abnormal hair morphology, Tapered finger, Microcephaly, Alo... ORPHA:317
11Q22.2Q22.3 Microdeletion Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Thick eyebrow, Obesity, Micrognathia, Small hand, ... ORPHA:444002
Martsolf Syndrome 1
Short palm, Short metacarpal, Broad fingertip, Short phalanx of finger, Metatarsus adductus, Micr... OMIM:212720
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Knee joint hypermobility, Delayed epiphyseal ossification... ORPHA:93308
Frontometaphyseal Dysplasia
Pes valgus, Limitation of knee mobility, Micrognathia, Pes cavus, Scoliosis, Metaphyseal widening... ORPHA:1826
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Kyphosis, Flexion contracture, Long e... OMIM:618658
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Absent pubic hair, Short metacarpal, Short phalanx of finger, Fine hair, Hypoplastic nipples, Spa... OMIM:211370
Pycnodysostosis
Brachydactyly, Abnormality of pelvic girdle bone morphology, Spondylolysis, Osteolytic defects of... OMIM:265800
Osteoglophonic Dysplasia
Bowing of the long bones, Short neck, Short palm, Short metacarpal, Rhizomelia, Broad palm, Short... OMIM:166250
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Epiphyseal stippling, Microcephaly, Short distal phalanx of finger, Abnormal ca... ORPHA:86822
Lowry-Wood Syndrome
Brachydactyly, Irregular epiphyses, Abnormality of epiphysis morphology, Dislocated radial head, ... ORPHA:1824
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Poorly ossified ver... ORPHA:1263
Cri-Du-Chat Syndrome
Premature graying of hair, Single transverse palmar crease, Short neck, Small for gestational age... OMIM:123450
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly, Macrocephaly, Relative macrocephaly OMIM:617169
Spondyloepiphyseal Dysplasia Tarda
Increased arm span, Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobil... ORPHA:93284
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Short neck, Congenital hip dislocati... ORPHA:93333
Chondrodysplasia-Disorder Of Sex Development Syndrome
Abnormality of pelvic girdle bone morphology, Short metacarpal, Short phalanx of finger, Micromel... ORPHA:1422
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Multiple joint contractures, Mesomelic leg shortening, Abnormali... OMIM:300244
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Clinoda... ORPHA:3409
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Obesity, Micrognathia, Micromelia, Limb undergrowth OMIM:269870
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Brachydactyly, Abnormality of pelvic girdle bone morphology, Truncal obesity, Micromelia, Ulnar d... ORPHA:2928
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Pes planus, Clinodactyly of the 5th finger, Inguinal hernia, ... OMIM:272460
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the toes, Carpal synostosis, Aplasia/Hypoplasia of ... OMIM:611377
Thanatophoric Dysplasia, Type Ii
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neonatal death,... OMIM:187601
Ring Chromosome 6 Syndrome
Microcephaly, Short distal phalanx of finger, Short neck, Low posterior hairline ORPHA:1448
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Brachydactyly, Short proximal phalanx of finger, Aplasia/Hypoplasia of toe, Microcephaly, Scolios... OMIM:613627
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Sacral dimple, Micrognat... OMIM:616331
Acrodysostosis 1 With Or Without Hormone Resistance
Brachydactyly, Neonatal epiphyseal stippling, Short palm, Small for gestational age, Hypoplastic ... OMIM:101800
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezoid bone, Short phalanx o... OMIM:606895
Peripheral Dysostosis
Brachydactyly, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand ORPHA:1795
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Short distal phalan... OMIM:601957
Keratoconus Posticus Circumscriptus
Brachydactyly, Webbed neck, Short neck, Clinodactyly of the 5th finger, Limited elbow extension a... OMIM:244600
Hall-Riggs Syndrome
Brachydactyly, Coarse hair, Abnormality of epiphysis morphology, Platyspondyly, Slow-growing hair... ORPHA:2107
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Pear-shaped verteb... OMIM:602111
Spastic Paraplegia 20, Autosomal Recessive
Brachydactyly, Clinodactyly, Flexion contracture, Hammertoe, Pes cavus, Kyphoscoliosis, Camptodac... OMIM:275900
Shox-Related Short Stature
Short neck, Ulnar radial head dislocation, Tibial bowing, Obesity, Madelung deformity, Micrognath... ORPHA:314795
Jeune Syndrome
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... ORPHA:474
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Micrognathia, Microcephaly, Narrow greater sciatic notch, Severe platy... ORPHA:508533
Greenberg Dysplasia
Brachydactyly, Abnormal pelvis bone ossification, Abnormal form of the vertebral bodies, Rhizomel... ORPHA:1426
Schaaf-Yang Syndrome
Brachydactyly, Clinodactyly, Kyphosis, Flexion contracture, Failure to thrive in infancy, Rocker ... OMIM:615547
Pseudohypoparathyroidism, Type Ic
Brachydactyly, Short neck, Enamel hypoplasia, Short metacarpal, Obesity, Short metatarsal OMIM:612462
Angel-Shaped Phalango-Epiphyseal Dysplasia
Abnormality of epiphysis morphology, Short middle phalanx of finger, Short 1st metacarpal, Short ... ORPHA:63442
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Irregular epiphyses, Short neck, Rhizomelia, Relative macrocephaly, Platyspondyly,... OMIM:612813
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Talipes, Absent radius, Absent tibia, Mirror image polydactyly... ORPHA:2378
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Craniofrontonasal Dysplasia
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Widow's peak, Finger syndactyly, Wooll... ORPHA:1520
Tetralogy Of Fallot
Brachydactyly, Clinodactyly of the 5th finger ORPHA:3303
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Short metacarpal, Tibial bowing, Platyspondyly, Inguina... OMIM:610915
Charlie M Syndrome
Brachydactyly, Finger syndactyly, Triphalangeal thumb, Micrognathia, Split hand, Abnormal metacar... ORPHA:1406
Microcephalic Primordial Dwarfism, Toriello Type
Clinodactyly, Short palm, Enamel hypoplasia, Short middle phalanx of toe, Micrognathia, Microceph... OMIM:251190
Omodysplasia 1
Umbilical hernia, Short neck, Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited... OMIM:258315
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
2-4 toe cutaneous syndactyly, Short 5th metacarpal, Short 4th metacarpal, Short 3rd toe, Intrinsi... OMIM:618569
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Hitchhiker thumb, Widened distal pha... OMIM:108721
Multiple Osteochondromas
Limitation of knee mobility, Abnormal pelvis bone morphology, Deformed radius, Abnormal morpholog... ORPHA:321
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Brachydactyly, High anterior hairline, Sparse lateral eyebrow OMIM:618879
Cranioectodermal Dysplasia 1
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Broad distal phalanges of all finger... OMIM:218330
Femoral-Facial Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Abnormality of pelvic girdle bone morp... ORPHA:1988
Marinesco-Sjögren Syndrome
Brachydactyly, Coxa valga, Short palm, Metatarsus valgus, Abnormality of finger, Microcephaly, Sc... ORPHA:559
Femoral-Facial Syndrome
Toe syndactyly, Missing ribs, Absent vertebra, Hypoplastic acetabulae, Dysplastic sacrum, Microgn... OMIM:134780
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Decreased body weight, Finger syndactyly, Failure to thrive in infan... ORPHA:313781
Frank-Ter Haar Syndrome
Brachydactyly, Kyphosis, Clinodactyly of the 5th finger, Beaking of vertebral bodies, Acne, Ingui... ORPHA:137834
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Brachydactyly, Lumbar hyperlordosis, Short thumb, Broad hallux OMIM:165800
Roifman-Chitayat Syndrome
Short neck, Short metacarpal, Cone-shaped epiphysis, Umbilical hernia, Short metatarsal OMIM:613328
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Orofaciodigital Syndrome Vi
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Micrognathia, Preaxial ... OMIM:277170
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ribs, Metaphyseal cupping, Disc-lik... OMIM:151210
Bardet-Biedl Syndrome 4
Brachydactyly, Obesity, Syndactyly, Polydactyly OMIM:615982
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia of the 3rd finger, Absent tibia, Short hallux, Absent forearm, Aplasia/Hypoplasia of the ... OMIM:119100
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Abnormal hair morphology, Abnormal foot morphology, Preaxial p... ORPHA:64754
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microcephaly, Hypoplastic iliac wing, Shor... OMIM:210720
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Proteasome-Associated Autoinflammatory Syndrome 2
Brachydactyly, Clinodactyly, Failure to thrive, Skin rash OMIM:618048
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Brachydactyly, Long eyelashes, Clinodactyly of the 5th finger, Thick eyebrow, Micrognathia, Synop... OMIM:618381
Temtamy Syndrome
Brachydactyly, Genu varum, Pes planus, Clinodactyly of the 5th finger, Micrognathia, Short toe, M... ORPHA:1777
Fountain Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Abnormal foot morphology, Thick e... ORPHA:3219
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Brachydactyly, Short neck, Multiple rows of eyelashes, Thick eyebrow, Aplasia/Hypoplasia involvin... ORPHA:163654
Spondyloepiphyseal Dysplasia, Nishimura Type
Brachydactyly, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification OMIM:618618
Jansen-De Vries Syndrome
Brachydactyly, Hyperlordosis, Short foot, Small hand OMIM:617450
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Short r... OMIM:613091
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Corneodermatoosseous Syndrome
Brachydactyly, Palmoplantar hyperkeratosis, Short distal phalanx of finger, Erythroderma, Hypomat... OMIM:122440
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Single transverse palmar crease, Aplasia/Hypoplasia of the middle phalanx of the 5th finger, Apla... OMIM:609432
Baller-Gerold Syndrome
Carpal synostosis, Hypoplasia of the ulna, Patellar hypoplasia, Absent radius, Aplasia/Hypoplasia... OMIM:218600
Hirschsprung Disease-Type D Brachydactyly Syndrome
Brachydactyly, Short distal phalanx of the thumb, Short phalanx of hallux ORPHA:2150
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Brachydactyly, Coxa valga, Delayed ossification of carpal bones, Single transverse palmar crease,... OMIM:617425
Maxillonasal Dysplasia, Binder Type
Short distal phalanx of finger, Vertebral clefting, Patchy distortion of vertebrae OMIM:155050
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Abnormality of epiphysis morphology, H... ORPHA:2746
Multiple Synostoses Syndrome 2
Brachydactyly, Carpal synostosis, Finger symphalangism, Vertebral fusion, Humeroradial synostosis... OMIM:610017
Trichothiodystrophy 9, Nonphotosensitive
Brachydactyly, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding OMIM:619692
Campomelic Dysplasia
Narrow iliac wing, Absent sternal ossification, Fibular hypoplasia, Pes planus, 11 pairs of ribs,... OMIM:114290
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Brachydactyly, Short metacarpal, Rhizomelic arm shortening, Eczema, Panniculitis, Short humerus ORPHA:508542
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Abnormal ... ORPHA:337
Juberg-Hayward Syndrome
Toe syndactyly, Abnormal eyebrow morphology, Hammertoe, Short thumb, Hypoplasia of the radius, Ab... ORPHA:2319
Camptodactyly Syndrome, Guadalajara Type 1
Brachydactyly, Toe syndactyly, Sacral dimple, Abnormal form of the vertebral bodies, Highly arche... ORPHA:1327
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Brachydactyly, Synostosis of carpal bones, Biparietal narrowing, Finger syndactyly, Kyphosis, Cli... ORPHA:1005
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Brachydactyly, Short metacarpal, Sparse eyebrow, Metaphyseal chondrodysplasia, Micrognathia, Shor... OMIM:250410
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the t... ORPHA:2513
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Brachydactyly, Coronal cleft vertebrae, Finger joint hypermobility, Scapular winging, 2-3 toe syn... OMIM:618870
Larsen Syndrome
Cervical kyphosis, Multiple carpal ossification centers, Bipartite calcaneus, Short metacarpal, D... OMIM:150250
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Brachydactyly, Short thumb ORPHA:435804
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Sandal gap, Clinodactyly of the 5th finger, 11 pairs of ribs, Spondylolisth... OMIM:617877
Adams-Oliver Syndrome 3
2-3 toe syndactyly, Microcephaly, Short distal phalanx of finger, Absent toe, Short metatarsal OMIM:614814
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Brachydactyly, Kyphosis, Small for g... ORPHA:94065
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Keloids, Kyphosis, Obesity, Hyperlordosis, Broad foot, Short toe ORPHA:3085
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Brachydactyly, Sparse hair, Alopecia, Broad thumb OMIM:617763
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Abnormal form of the vertebral bodies, Sandal gap, Obesity, Scoliosis, Abnormal de... ORPHA:2180
Lowry-Wood Syndrome
Brachydactyly, Irregular epiphyses, Shallow acetabular fossae, Small for gestational age, Clinoda... OMIM:226960
Cranioectodermal Dysplasia
Brachydactyly, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, Short distal phalan... ORPHA:1515
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Bowing of the long bones, Hypoplastic frontal sinuses, Short palm, Sa... ORPHA:90650
Coffin-Lowry Syndrome
Brachydactyly, Narrow iliac wing, Pseudoepiphyses of the metacarpals, Kyphosis, Abnormal form of ... ORPHA:192
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Neon... OMIM:187600
Carpenter Syndrome 1
Genu varum, Clinodactyly of the 5th finger, Complete duplication of proximal phalanx of the thumb... OMIM:201000
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Femoral bowing, P... ORPHA:1860
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Brachydactyly, Tibial deviation of... ORPHA:363417
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Short femoral neck, Short ribs, Cone-shaped epiphysis, Short phalanx of finger, Microcephaly, Hyp... OMIM:266920
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Carpal synostosis, Clinodactyly of the 5th finger, Micrognathia, Patellar dislocation... OMIM:274000
Okur-Chung Neurodevelopmental Syndrome
Brachydactyly, Clinodactyly, Micrognathia, Highly arched eyebrow, Microcephaly, Failure to thrive... OMIM:617062
Alg6-Cdg
Brachydactyly, Shortening of all distal phalanges of the fingers, Failure to thrive, Scoliosis, H... ORPHA:79320
Craniosynostosis 3
Brachydactyly, Low anterior hairline, Single transverse palmar crease, Hallux valgus OMIM:615314
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hypoplastic pubic bone, Short long bone, Short neck, Fibular hypoplasia, Short ribs, Preaxial pol... OMIM:617925
Wiedemann-Rautenstrauch Syndrome
Long foot, Micrognathia, Scoliosis, Macrocephaly, Large hands, Flexion contracture, Lipoatrophy, ... OMIM:264090
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Obesity, Short long bone, Postaxial polydactyly OMIM:615633
Spondyloepiphyseal Dysplasia Congenita
Micrognathia, Scoliosis, Genu valgum, Aplasia/hypoplasia involving bones of the extremities, Shor... ORPHA:94068
Autosomal Recessive Omodysplasia
Hernia, Rhizomelia, Elbow dislocation, Micrognathia, Abnormality of the radius, Abnormality of fe... ORPHA:93329
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Short 4th metacarpal, Microcephaly, Short clavicles, Microretrognathia OMIM:606220
Brachydactyly, Mononen Type
Aplasia of the distal phalanx of the 2nd finger, Proximal fibular overgrowth, Coalescence of tars... OMIM:301940
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Bowing of the legs, Metaphyseal irregularity, Delayed epiphyseal ossification, Short ... ORPHA:93352
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Single transverse palmar crease, Short neck, Rhizomelia, H... OMIM:602613
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Abnormal foot morphology ORPHA:168796
Acrofacial Dysostosis, Catania Type
Brachydactyly, Webbed neck, Finger syndactyly, Short palm, Coarse hair, Clinodactyly of the 5th f... ORPHA:1786
Occipital Horn Syndrome
Hiatus hernia, Coxa valga, Kyphosis, Coarse hair, Pes planus, Limited knee extension, Platyspondy... OMIM:304150
Dermatoosteolysis, Kirghizian Type
Brachydactyly, Abnormal foot morphology, Dystrophic toenail, Scoliosis, Abnormality of the metaph... ORPHA:1657
Xylt1-Cdg
Clinodactyly, Short long bone, Coxa valga, Short femoral neck, Pes planus, Acne, Relative macroce... ORPHA:370930
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Microcephaly, Abnormality of epiphysis morphology, Enamel hypoplasia ORPHA:2643
Camptobrachydactyly
Brachydactyly, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulnar deviatio... ORPHA:1319
Poland Syndrome
Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid muscle, Unilateral oligodactyly, Hemi... OMIM:173800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Short neck, Cutaneous syndact... OMIM:236500
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Pruritus, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Sho... OMIM:619269
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly OMIM:228250
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Pruritus, Abnormality of epiphysis morphology, Elevated circulating C-reactive protein concentrat... ORPHA:324964
Mandibuloacral Dysplasia With Type B Lipodystrophy
Brittle hair, Flexion contracture, Loss of facial adipose tissue, Decreased adipose tissue around... OMIM:608612
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Long foot, Talipes valgus, Irregu... OMIM:169170
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Brachydactyly, Hypertrichosis, Flexion contracture, Trident pelvis, Short humerus, Short long bon... OMIM:619479
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Ventral hernia, Long eyelashes, Relative macrocephaly, Micrognathia,... OMIM:618529
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... ORPHA:988
Congenital Disorder Of Glycosylation, Type Iic