brachyolmia type 3

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brachyolmia type 3

An autosomal dominant form (OMIM:113500) of brachyolmia, a group of clinically and genetically heterogeneous skeletal dysplasias characterised by a short trunk, scoliosis and mild short stature. BRAC3 is remarkable for severe kyphoscoliosis and flattened, irregular cervical vertebrae.

Molecular pathology
Caused by defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure.