Grubben-de Cock-Borghgraef综合征

定义 英文原文（暂无中文）

Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.

别名

发育迟缓-张力过低-四肢肥大综合征

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

临床表型 15

外部标识与链接