眉重复-并指(趾)综合征
Eyebrow duplication-syndactyly syndrome
ORPHA:3172疾病
定义 英文原文（暂无中文）
A rare syndrome with syndactyly characterized by partial duplication of the eyebrows (mainly in the lateral portions) and syndactyly of the fingers and toes. Additional clinical features may include long eyelashes, hypertrichosis, excessive wrinkling of the periorbital skin, congenital lip fibroma, skin hyperelasticity (on the face and chest) and hypermobility of the interphalangeal joints. There have been no further descriptions in the literature since 1989.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
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）