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缺指(趾)-多指(趾)综合征

Ectrodactyly-polydactyly syndrome

ORPHA:1892疾病

定义 英文原文(暂无中文)

Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.

基本事实

发病年龄
产前
患病率
<1 / 1 000 000

临床表型 7

极常见 99–80%2

  • 缺趾/指畸形 HP:0100257
  • 轴后多指畸形 HP:0001162

常见 79–30%5

  • 掌骨形态异常 HP:0005916
  • 短指(趾) HP:0001156
  • 手指弯曲 HP:0100490
  • 手指并指 HP:0006101
  • 指关节融合 HP:0009773

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)