Familial digital arthropathy-brachydactyly

Definition:

Familial digital arthropathy-brachydactyly (FDAB) is an autosomal dominant disorder characterized by aggressive osteoarthropathy of the fingers and toes and consequent shortening of the middle and distal phalanges. It is caused by mutations in TRPV4 that encodes the cation channel.

References:

[1]. Shireen R Lamandé, et al. Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet. 2011 Oct 2;43(11):1142-6. [Content Brief]

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