斜视
Unilateral ocular duplication
ORPHA:3374疾病
定义 英文原文（暂无中文）
A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate intellectual disability and epilepsy are typical.
别名
Triophthalmia、Triopia、Unilateral diplophthalmia、Unilateral diplophthalmos
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 18
极常见 99–80%18
- 眉毛形态异常 HP:0000534
- 瞳孔形态异常 HP:0000615
- 颅缝或囟门形态异常 HP:0000235
- 皮肤异常 HP:0000951
- 眼睑裂狭小 HP:0000581
- 腭裂 HP:0000175
- 长头畸形 HP:0000268
- 脑膨出 HP:0002084
- 面部不对称 HP:0000324
- 前额突出 HP:0002007
- 眼距过宽 HP:0000316
- 虹膜缺损 HP:0000612
- 喉软骨软化 HP:0001601
- 巨头畸形 HP:0000256
- 上唇正中裂 HP:0000161
- 小角膜 HP:0000482
- 面中裂 HP:0100629
- 羊水过多 HP:0001561
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）