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胸腹小肠重复畸形

Thoraco-abdominal enteric duplication

ORPHA:1759疾病

定义 英文原文(暂无中文)

Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.

基本事实

发病年龄
婴儿期
患病率
1-9 / 1 000 000

临床表型 12

极常见 99–80%12

  • 皮纹异常 HP:0007477
  • 三尖瓣形态异常 HP:0001702
  • 不对称生长 HP:0100555
  • 手指弯曲 HP:0100490
  • 右位心 HP:0001651
  • 脊髓纵裂 HP:0100563
  • 十二指肠狭窄 HP:0100867
  • 肝脏肿大 HP:0002240
  • 肠旋转不良 HP:0002566
  • 脑脊膜膨出 HP:0002435
  • 肋骨缺失 HP:0000921
  • 呼吸功能不全 HP:0002093

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)