小头畸形-腭裂-视网膜异常色素沉着综合征

定义 英文原文（暂无中文）

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.

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

临床表型 12

外部标识与链接