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Non-syndromic unilambdoid craniosynostosis

ORPHA:620113疾病暂无中文名

定义 英文原文(暂无中文)

A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two lambdoid sutures, resulting in ipsilateral occipitoparietal flattening, contralateral parietal and frontal bossing, occipitomastoid bulge, and posterior-inferior displacement of the ipsilateral ear. The skull appears trapezoid from above, while the face is typically C-shaped with ipsilateral convexity.

别名

Isolated occipital plagiocephaly、Isolated unilamboid craniosynostosis、Non-syndromic posterior synostotic plagiocephaly、Non-syndromic unilateral lambdoid synostosis

基本事实

遗传方式
常染色体隐性
发病年龄
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;本条目在该版本中无中文名
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)