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轴后性四肢少指畸形

Postaxial tetramelic oligodactyly

ORPHA:2730疾病

定义 英文原文(暂无中文)

Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.

基本事实

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%4

  • 掌骨形态异常 HP:0005916
  • 手指形态异常 HP:0001167
  • 缺趾/指畸形 HP:0100257
  • 少指(趾)畸形 HP:0012165

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)