动脉夹层-雀斑样痣病综合征
Arterial dissection-lentiginosis syndrome
ORPHA:1682疾病
定义 英文原文(暂无中文)
A rare association syndrome, reported in several members of two families to date, characterized by arterial dissection, occurring at an early age and presenting with a range of manifestations depending on the vascular territory involved (ex. headache, dysphasia, hemiparesis), in association with cystic medial necrosis and multiple lentigines (brown and black in color and mainly affecting the skin of the trunk and extremities).
基本事实
- 遗传方式
- 未知
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 4
极常见 99–80%3
- 动脉夹层 HP:0005294
- 动静脉畸形 HP:0100026
- 黑素细胞痣 HP:0000995
常见 79–30%1
- 轻偏瘫 HP:0001269
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)