digital arthropathy-brachydactyly

(redirected from FDAB)
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digital arthropathy-brachydactyly

A 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.
 
Imaging
Severe platyspondyly, marked metaphyseal enlargement, shortened long bones.
 
Molecular pathology
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.