翼状颈-智力障碍-指异常综合征

定义 英文原文（暂无中文）

A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.

别名

Khalifa-Graham综合征

基本事实

遗传方式

常染色体显性、X 连锁显性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 16

外部标识与链接