X连锁智力障碍-肢端肥大症-多动综合征

定义 英文原文（暂无中文）

X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers. Dysarthria, aggressive behaviour, a characteristic facies (an acromegalic and triangular face with a long nose) and macroorchidism were also present. The mother displayed moderate intellectual deficit and milder facial anomalies. Central nervous system anomalies were identified in the two boys: subarachnoid cysts and hyperdensity in the pontine region.

基本事实

遗传方式

X 连锁隐性

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 12

外部标识与链接