鱼鳞病-口指畸形综合征

定义 英文原文（暂无中文）

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by ichthyosis, skeletal and digital anomalies (including flexion deformities of the large joints, proximal interphalangeal joints, absent distal flexion crease of fingers, tapering fingers, hypoplastic toes and nails, dislocatable ankles) and facial dysmorphism (including short forehead, epicanthic folds, small mouth with thin upper lip, midline lower lip groove, and fullness of the lateral eyelids, cleft palate can also be present). Additional clinical features may include developmental delay, generalized hypotonia, feeding difficulties, recurrent chest and gastrointestinal infections. There have been no further descriptions in the literature since 1989.

别名

Clayton Smith-Donnai综合征

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期、新生儿期

患病率

<1 / 1 000 000

外部标识与链接