Camptobrachydactyly

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Camptobrachydactyly

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Camptobrachydactyly?

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