camptobrachydactyly

Camptobrachydactyly is an extremely rare brachydactyly syndrome characterized by short, broad hands and feet, alongside congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers. It has been associated with syndactyly of the feet and occasionally polydactyly, septate vagina, and urinary incontinence. The condition appears to follow an autosomal dominant inheritance pattern, as evidenced by its occurrence in one family with 18 affected members. However, no specific genes have been identified, and systematic clinical documentation is lacking since the last report in 1972.

Documentation for camptobrachydactyly is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 people globally. This scarcity hinders systematic clinical studies and comprehensive phenotypic characterization. Additionally, the lack of recent literature since 1972 contributes to the challenges in understanding this condition fully.