先天性食管短缩-胸腔胃-椎体畸形综合征

定义 英文原文（暂无中文）

A rare syndromic esophageal malformation characterized by severe congenital brachyesophagus with midline diaphragmatic hernia and secondary intrathoracic stomach, and vertebral anomalies (in particular rachischisis of the cervical/thoracic spine). Additional reported manifestations include intrauterine growth restriction, short neck, intestinal malrotation, herniation of other abdominal organs, and cleft lip, among others. The condition is mostly fatal in the neonatal or early infantile period.

别名

索样综合征

基本事实

发病年龄

产前、新生儿期

患病率

<1 / 1 000 000

外部标识与链接