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familial digital arthropathy-brachydactyly

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.
Uniprot Description A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected.
Mondo Term and Equivalent IDs
MONDO:0011732:  familial digital arthropathy-brachydactyly
MESH:C564656: 
Orphanet:85169: 
UMLS:C1847406: