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双阴茎畸形

Diphallia

ORPHA:227疾病

定义 英文原文(暂无中文)

A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.

基本事实

发病年龄
婴儿期、新生儿期
患病率
<1 / 1 000 000

临床表型 29

极常见 99–80%3

  • 泌尿生殖系统异常 HP:0000119
  • 二裂阴茎 HP:0100599
  • 阴囊对裂 HP:0000048

常见 79–30%5

  • 肛门闭锁 HP:0002023
  • 远端尿道重复畸形 HP:0008706
  • 异位阴囊 HP:0030275
  • 尿道下裂 HP:0000047
  • 阴茎阴囊转位 HP:0100600

偶见 29–5%15

  • 心脏形态异常 HP:0001627
  • 生精异常 HP:0008669
  • 胃肠道异常 HP:0011024
  • 耻骨形态异常 HP:0003172
  • 房间隔缺损 HP:0001631
  • 膀胱外翻 HP:0002836
  • 泄殖腔外翻 HP:0010475
  • 隐睾 HP:0000028
  • 尿道上裂 HP:0000039
  • 胃肠重复 HP:0011140
  • 马蹄肾 HP:0000085
  • 腹股沟疝 HP:0000023
  • 肾重复 HP:0000075
  • 肾旋转不良 HP:0004712
  • 输尿管重复 HP:0000073

罕见 <4–1%6

  • 拇指缺如 HP:0009777
  • 蝴蝶椎 HP:0003316
  • 重复结肠 HP:0005223
  • 半椎体 HP:0002937
  • 直肠会阴瘘 HP:0004792
  • 脊柱侧弯 HP:0002650

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)