花斑秃-神经缺陷综合征

定义 英文原文（暂无中文）

Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.

别名

Telfer-Sugar-Jaeger综合征

基本事实

发病年龄

无数据

患病率

<1 / 1 000 000

临床表型 14

外部标识与链接