指屈曲-牛磺酸尿综合征

定义 英文原文（暂无中文）

Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.

别名

家族性指屈曲畸形-氨基酸尿症

基本事实

遗传方式

常染色体显性

发病年龄

婴儿期

患病率

<1 / 1 000 000

临床表型 4

外部标识与链接