无虹膜-髌骨缺如综合征
Aniridia-absent patella syndrome
ORPHA:1069疾病
定义 英文原文（暂无中文）
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 8
极常见 99–80%2
- 无虹膜 HP:0000526
- 髌骨发育不良/发育不全 HP:0006498
常见 79–30%6
- 白内障 HP:0000518
- 隐睾 HP:0000028
- 青光眼 HP:0000501
- 肌张力减退 HP:0001252
- 腹股沟疝 HP:0000023
- 上睑下垂 HP:0000508
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）