毛发-视网膜-牙-指综合征

定义 英文原文（暂无中文）

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.

别名

难梳发-视网膜色素营养不良-牙齿异常-短指综合征

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 10

外部标识与链接