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Statistic
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Details for phenotype: brachydactyly type A2
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EndoNet ID: ENP00523
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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
regulation of chondrocyte differentiation
cartilage condensation
OMIM
112600
MeSH term
67537089
Disease database
29782
Phenotype triggers
BMP receptor type IB
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in
chondrocyte
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BDA2 is caused by heterozygous missense mutations in BMPR1B. These mutations affect cartilage differentiation and bone formation in a dominant-negative way.
[1]
Reference