白内障-口腔系带异常-生长迟缓综合征

定义 英文原文（暂无中文）

Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.

别名

Wellesley-Carman-French综合征

基本事实

发病年龄

儿童期

患病率

<1 / 1 000 000

临床表型 10

外部标识与链接