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Brachydactyly type A2
1 OMIM reference -
3 associated genes
83 connected diseases
6 signs/symptoms
Disease Type of connection
Brachydactyly type C
Multiple synostoses syndrome
Proximal symphalangism
20p12.3 microdeletion syndrome
Acromesomelic dysplasia, Grebe type
Acromesomelic dysplasia, Hunter-Thomson type
Angel-shaped phalango-epiphyseal dysplasia
Brachydactyly type A1
Fibular aplasia - complex brachydactyly
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary mixed polyposis syndrome
Heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Pulmonary venoocclusive disease
Hereditary nonpolyposis colon cancer
Juvenile polyposis of infancy
Fibrodysplasia ossificans progressiva
Situs ambiguus
Familial thoracic aortic aneurysm and aortic dissection
14q22q23 microdeletion syndrome
Microphthalmia with brain and digit anomalies
Brachydactyly type B2
Stapes ankylosis with broad thumbs and toes
Tarsal-carpal coalition syndrome
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Colobomatous microphthalmia
Isolated Klippel-Feil syndrome
Leber congenital amaurosis
Familial cerebral saccular aneurysm
Hereditary hemorrhagic telangiectasia
Keutel syndrome
Autosomal dominant hypohidrotic ectodermal dysplasia
Estrogen resistance syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked lymphoproliferative disease
Duane retraction syndrome
Fanconi anemia
Giant cell glioblastoma
Neurofibromatosis type 3
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
46,XX gonadal dysgenesis
Amish nemaline myopathy
Amyotrophic lateral sclerosis
Camurati-Engelmann disease
Cystic fibrosis
Dedifferentiated liposarcoma
Familial melanoma
Haddad syndrome
Loeys-Dietz syndrome type 1
Microcephaly-capillary malformation syndrome
Multiple keratoacanthoma, Ferguson-Smith type
Ondine syndrome
Persistent Müllerian duct syndrome
Peters anomaly
Walker-Warburg syndrome
Well-differentiated liposarcoma
X-linked non-syndromic intellectual deficit
- Brachydactyly, Mohr-Wriedt type

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C537089

Gene symbol UniProt reference OMIM reference
BMP2 P12643112261
BMPR1B O00238603248
GDF5 P43026601146
Very frequent
- Autosomal dominant inheritance
- Short hand / brachydactyly

- Clinodactyly of fifth finger
- Short foot / brachydactyly of toes

- Metacarpal anomalies / Archibald's sign
- Terminal / third phalangeal bone of fingers hypoplasia