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Details for phenotype: brachydactyly type A2

EndoNet ID: ENP00523

Name

brachydactyly type A2

General information

This phenotype is pathologic
  • Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the first and second toes. [1]

Links to other resources

GO
OMIM 112600
MeSH term 67537089
Disease database 29782

Phenotype triggers

  • BMP receptor type IB
    in chondrocyte
    • BDA2 is caused by heterozygous missense mutations in BMPR1B. These mutations affect cartilage differentiation and bone formation in a dominant-negative way. [1]
Reference