三角头畸形-宽拇指综合征

定义 英文原文（暂无中文）

A rare syndromic craniosynostosis characterized by neonatal trigonocephaly with prominent metopic ridge/bregma, hypotelorism, shallow orbits, deviation of the digits, broad thumbs with duplication of the terminal phalanx and clinodactyly. Craniofacial dysmorphism may also include oxycephaly, facial asymmetry, epicanthic folds, ptosis, hooked nose with extended septum (the philtrum may be attached anteriorly on the septum), and a large mouth with a downturned upper lip. Nail and dermatoglyphic abnormalities have also been reported. There have been no further descriptions in the literature since 1976.

别名

Hunter-Rudd-Hoffmann 综合征

基本事实

遗传方式

常染色体显性

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