疾病条目id

DI-00131

基因病名称(英)

Apert syndrome

基因病名称

阿珀特综合征

关键字(英)

Craniosynostosis

关键字

颅缝早闭

别名(英)

Acrocephalosyndactyly type 1,ACS1,ACS I

别名

1型，ACS1，ACS I

统计

reviewed:1; annotated:0

交叉引用

101200,C0001193,C1863389,C1863390,C1863391,D000168

助记符

APRS

描述(英)

A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations.

描述

一种以面颅骨接合、四肢骨膜性并指和面中部发育不全为特征的综合征。颅缝早闭是双冠状的，并导致短蝶形头颅畸形。手指和脚趾的并指可能是全部（手套手和袜子脚）或部分影响第二、第三和第四指。智力缺陷很常见，而且通常很严重，通常与脑畸形有关。