三角头畸形-鼻裂-肢端异常综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991.

基本事实

遗传方式

未知

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