无虹膜-上睑下垂-智力障碍-家族性肥胖综合征
Aniridia-ptosis-intellectual disability-familial obesity syndrome
ORPHA:1067疾病
定义 英文原文（暂无中文）
An extremely rare syndrome described in three members of a family (a mother and her two children) that is characterized by the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, , persistent pupillary membrane, lenticular opacities, foveal hypoplasia, and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children, and alopecia, cardiac abnormalities, and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 11
极常见 99–80%7
- 虹膜发育缺陷/不全 HP:0008053
- 角膜混浊 HP:0007957
- 智力障碍 HP:0001249
- 近视 HP:0000545
- 瞳孔膜存留 HP:0009917
- 上睑下垂 HP:0000508
- 视觉障碍 HP:0000505
偶见 29–5%4
- 心脏形态异常 HP:0001627
- 脱发 HP:0001596
- 白内障 HP:0000518
- 毛发色素减退 HP:0005599
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）