罕见病知识库 RareSeen

心-手综合征3型

Heart-hand syndrome type 3

ORPHA:1342疾病

定义 英文原文(暂无中文)

A rare multiple congenital anomalies/dysmorphic syndrome characterized by cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, affecting principally the middle phalanges of both hands, in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. There have been no further descriptions in the literature since 1980.

别名

心-手综合征,西班牙型

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)