点状软骨发育不良(CDPX)是 X 连锁隐性遗传病,其特征为矮个,鼻发育不全导致的异常面孔,软骨灶性钙化,先天性钙化性软骨发育不良,末端指骨发育不全。近年来研究表明,CDPX 与 X 染色体短臂末端缺失或 X 染色体远端的 X/Y 易位有关,并确定CDPX 的基因位于 Xp22.3位点,与类固醇硫酸酯酶(STS)基因邻近。X 连锁性干皮病(XLI)与 STS 缺乏有关,它是一种以棕色磷状皮肤为特征的先天代谢失常。 Dot-shaped cartilage dysplasia (CDPX) is an X-linked recessive genetic disease characterized by a short, abnormal face due to nasal hypoplasia, focal cartilage calcification, congenital calcified achondroplasia, and terminal phalangeal aplasia. In recent years, studies have shown that CDPX is related to deletion of the short arm of X chromosome or X / Y translocation on the distal X chromosome. The CDPX gene is located at Xp22.3 and is adjacent to the steroid sulfatase (STS) gene. X-linked dry skin disease (XLI) is associated with a lack of STS and is an inborn error of metabolism characterized by brown phosphorescent skin.