短指弯曲畸形

定义 英文原文（暂无中文）

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.

基本事实

遗传方式

常染色体显性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 9

外部标识与链接