并指(趾)畸形-多指(趾)畸形-耳垂综合症
Syndactyly-polydactyly-ear lobe syndrome
ORPHA:3259疾病
定义 英文原文(暂无中文)
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
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)