锥状磨牙-上唇畸形综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973.

别名

Ackerman磨牙牙根融合综合征

基本事实

遗传方式

常染色体隐性

发病年龄

儿童期

患病率

<1 / 1 000 000

外部标识与链接