小头畸形-小角膜综合征Seemanova型

定义 英文原文（暂无中文）

Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.

别名

Seemanova-Lesny综合征

基本事实

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

临床表型 15

外部标识与链接