Medullary tegmental cap dysplasia

定义 英文原文（暂无中文）

A rare syndrome with a brainstem malformation as a major feature characterized by an abnormal mass, also called cap, of different shape and size, protruding from the posterior medullary surface. Patients may present a variable phenotype ranging from normal neurodevelopment to profound developmental delay, as well as variable neurologic manifestations such as hypotonia, strabismus, nystagmus, absent eye contact and hyperkinetic movements. Sometimes, extracerebral anomalies are observed such as cutaneous lesions, respiratory problems, hematologic and hepatic disorders.

别名

MTCD

基本事实

遗传方式

未知

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接