brachydactyly type A2

An inherited malformation (OMIM:112600) characterised by shortened digits due to defective development of the phalanges and/or the metacarpals. BDA2 was described first in a large Norwegian kindred.

Brachydactyly syndromes have been classified on an anatomic and genetic basis into five groups, A to E, including three subgroups (A1 to A3), which usually manifest as autosomal dominant traits.
Molecular pathology
BMPR1B mutations cause BDA2 and function as dominant negatives.

单词	brachydactyly type a2
释义	DictionarySeebrachydactyly brachydactyly type A2 brachydactyly type A2 An inherited malformation (OMIM:112600) characterised by shortened digits due to defective development of the phalanges and/or the metacarpals. BDA2 was described first in a large Norwegian kindred. Brachydactyly syndromes have been classified on an anatomic and genetic basis into five groups, A to E, including three subgroups (A1 to A3), which usually manifest as autosomal dominant traits. Molecular pathology BMPR1B mutations cause BDA2 and function as dominant negatives.
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