常染色体显性遗传凸颌畸形
Autosomal dominant prognathism
ORPHA:2964疾病
定义 英文原文（暂无中文）
A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 新生儿期
临床表型 3
极常见 99–80%2
- 下颌前突 HP:0000303
- 开牙合 HP:0010807
常见 79–30%1
- 下唇唇红外翻 HP:0000232
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）