Familial Digital Arthropathy-Brachydactyly

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by interphalangeal, metacarpophalangeal, and metatarsophalangeal joint deformity and painful osteoarthritis becoming apparent during the first decade of life.

**Synonyms:** - FDAB