颈内动脉发育不全
Internal carotid absence
ORPHA:981疾病
定义 英文原文(暂无中文)
A rare vascular anomaly characterized by agenesis (complete absence of the carotid canal), aplasia (a remnant of the artery remains) or hypoplastic (incomplete embryonic development) of the internal carotid artery, which can be unilateral or bilateral. Children with the condition are mostly asymptomatic due to the presence of collateral circulation. With increasing age, the risk of cerebrovascular events increases. Patients may present with headache, seizures, or transient ischemic attacks. Cerebral aneurysms may form in the context of the condition.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 各年龄段
- 患病率
- <1 / 1 000 000
临床表型 5
常见 79–30%3
- 脑缺血 HP:0002637
- 脑动脉扩张 HP:0004944
- 蛛网膜下腔出血 HP:0002138
偶见 29–5%2
- 蛛网膜囊肿 HP:0100702
- 头痛 HP:0002315
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)