罕见病知识库 RareSeen

双面畸形

Diprosopus

ORPHA:1681疾病

定义 英文原文(暂无中文)

Diprosopus is a rare, life-threatening developmental defect during embryogenesis, and a subtype of conjoined twins, characterized by partial or complete duplication of the facial structures on a single head, neck, trunk and body. It may be associated with congenital anomalies involving the cardiovascular, gastrointestinal, respiratory and central nervous systems. Cleft lip and palate have been reported in rare cases.

别名

颅面重复畸形

基本事实

遗传方式
No data available
发病年龄
产前
患病率
1-9 / 1 000 000(Argentina)

临床表型 10

极常见 99–80%9

  • 心脏间隔异常 HP:0001671
  • 耳廓形态异常 HP:0000377
  • 视网膜色素异常 HP:0007703
  • 眼部异常 HP:0000478
  • 脸部异常 HP:0000271
  • 鼻异常 HP:0000366
  • 视力异常 HP:0000504
  • 无脑畸形 HP:0002323
  • 腭裂 HP:0000175

常见 79–30%1

  • 上唇非中线裂 HP:0100335

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)