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喉气管血管瘤

Airway infantile hemangioma

ORPHA:137935疾病

定义 英文原文(暂无中文)

A rare benign vascular tumor characterized by rapid growth after birth (followed by spontaneous partial regression over the course of years), potentially leading to life-threatening airway obstruction due to the subglottic location. Patients present with respiratory symptoms including biphasic stridor, recurrent croup, cyanosis, apnea, and sternal and intercostal retractions. The tumor may be accompanied by cutaneous hemangiomata, especially in the lower facial ("beard") distribution.

别名

Airway infantile haemangioma、Laryngotracheal angioma

基本事实

遗传方式
不适用
发病年龄
婴儿期

临床表型 13

极常见 99–80%1

  • 喘鸣 HP:0010307

常见 79–30%4

  • 咳嗽 HP:0012735
  • 喂养困难 HP:0011968
  • 肋间隙回缩 HP:0030864
  • 呼吸窘迫 HP:0002098

偶见 29–5%5

  • 紫绀 HP:0000961
  • 语言发育迟缓 HP:0000750
  • 面部血管瘤 HP:0000329
  • 声音嘶哑 HP:0001609
  • 哮鸣音 HP:0030828

罕见 <4–1%3

  • 呼吸暂停 HP:0002104
  • 睡眠异常 HP:0002360
  • 呕吐 HP:0002013

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)