digital arthropathy-brachydactyly(redirected from FDAB)
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digital arthropathy-brachydactylyA disorder (OMIM:606835) characterised by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand, which first appear in late childhood, and by adulthood affect all interphalangeal, metacarpophalangeal and metatarsophalangeal joints, resulting in deforming and painful osteoarthritis.
Severe platyspondyly, marked metaphyseal enlargement, shortened long bones.
Defects in TRPV4, which encodes a nonselective cation channel thought to sense mechanical and osmotic changes and regulate systemic osmotic pressure, cause digital arthropathy-brachydactyly.