X连锁角膜皮样瘤
X-linked corneal dermoid
ORPHA:1661疾病
定义 英文原文（暂无中文）
X-linked corneal dermoid (X-CND) is an exceedingly rare, benign, congenital, corneal tumor characterized by bilateral opacification of the cornea with superficial grayish layers and irregular raised whitish plaques, as well as fine blood vessels covering the central cornea, and intact peripheral corneal borders. No other ocular or systemic abnormality is noted. The pattern of inheritance described in the affected family is consistent with X-linked transmission.
别名
角膜上皮营养不良-身材矮小综合征
基本事实
- 遗传方式
- X 连锁隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 4
极常见 99–80%2
- 角膜混浊 HP:0007957
- 视觉障碍 HP:0000505
常见 79–30%1
- 瞳孔形态异常 HP:0000615
偶见 29–5%1
- 视力丧失 HP:0000572
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）