小颅骨综合征

定义 英文原文（暂无中文）

A rare syndromic craniosynostosis malformation syndrome characterized by intrauterine growth retardation, under-ossification of the skull with large fontanels, short limbs with absent phalanges, and finger and toe syndactyly. Reported dysmorphic features include a narrow face with small palpebral fissures, small pointed nose, microstomia, micrognathia, and low-set and posteriorly rotated ears. A posterior encephalocele and other congenital malformations can also be observed.

基本事实

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000（Europe）

外部标识与链接