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camptobrachydactyly

Disease Summary
Associated Targets ()

Mondo Description Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
Mondo Term and Equivalent IDs
MONDO:0007249:  camptobrachydactyly
GARD:0001062: 
MESH:C537967: 
Orphanet:1319: 
SCTID:733045005: