罕见病知识库 RareSeen

先天性阴囊发育不全

Congenital agenesis of the scrotum

ORPHA:495879疾病

定义 英文原文(暂无中文)

A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies.

别名

Congenital scrotal agenesis

基本事实

遗传方式
不适用
发病年龄
新生儿期
患病率
<1 / 1 000 000

外部标识与链接

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
  • 中文病名:Orphanet 中文包,冻结于 2020-06-01
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)