罕见病知识库 RareSeen

阴茎发育不全

Penile agenesis

ORPHA:49疾病

定义 英文原文（暂无中文）

Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

别名

阴茎发育不全

基本事实

发病年龄
产前、新生儿期
患病率
<1 / 1 000 000

临床表型 29

极常见 99–80%18

  • 膀胱异常 HP:0000014
  • 阴茎缺如 HP:0030261
  • 外阴性别不明 HP:0000062
  • 肛门闭锁 HP:0002023
  • 肛肠异常 HP:0012732
  • 双侧肾发育不良 HP:0012584
  • 泄殖腔畸形 HP:0012620
  • 鼻梁塌陷 HP:0005280
  • 胎儿肾盂扩张 HP:0010945
  • 肾积水 HP:0000126
  • 输尿管积水 HP:0000072
  • 羊水过少 HP:0001562
  • 后旋耳 HP:0000358
  • 肺发育不良 HP:0002089
  • 直肠瘘 HP:0100590
  • 短鼻 HP:0003196
  • 单侧肾发育不良 HP:0012583
  • 尿道瘘 HP:0010480

偶见 29–5%11

  • 房间隔缺损 HP:0001631
  • 脊髓萎缩 HP:0006827
  • 双肺发育不全 HP:0005944
  • 双肾缺如 HP:0010958
  • 双侧马蹄内翻足 HP:0001776
  • 隐睾 HP:0000028
  • 囊性肾发育不良 HP:0000800
  • 母体糖尿病 HP:0009800
  • 气管食管瘘 HP:0002575
  • 男性尿道闭锁 HP:0000052
  • 室间隔缺损 HP:0001629

外部标识与链接

OrphanetMONDO:0018846GARD:4272ICD-10 Q55.5ICD-11 LB50ClinicalTrials.gov 检索

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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）