Brachydactyly type A2

How is brachydactyly type A2 diagnosed?

Brachydactyly type A2 is typically diagnosed by physical examination. A clinician may look at the hands and feet and determine that they seem to match what is commonly seen in brachydactyly type A2. X-ray may be used to get a better view of the bones in the fingers and toes. Genetic testing is typically not completed to confirm the diagnosis unless one is participating in a clinical trial.

Last updated on 05-01-20

How is brachydactyly type A2 inherited?

Brachydactyly type A2 is a genetic condition, meaning that it is caused by a change (mutation) in a person’s genes. Specifically, brachydactyly type A2 is caused by a mutation in one of two genes: BMPR1B _or GDF5. Mutations in areas of the genetic code that control a gene called BMP2_ can also cause brachydactyly type A2.

In families with multiple cases of brachydactyly type A2, it seems that the condition is inherited in an autosomal dominant manner. This means that every child of a person affected by the condition has a 50% chance of having the condition themselves.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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