斜颈-瘢痕疙瘩-隐睾-肾发育不良综合征

定义 英文原文（暂无中文）

Torticollis-keloids-cryptorchidism-renal dysplasia syndrome is an extremely rare developmental defect during embryogenesis malformation syndrome characterized by congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (e.g. chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies.

基本事实

遗传方式

X 连锁显性

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