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)