先天性巨舌
Congenital macroglossia
ORPHA:2430疾病
定义 英文原文（暂无中文）
A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 100 000（United States）
临床表型 4
极常见 99–80%1
- 巨舌症 HP:0000158
罕见 <4–1%3
- 异常肝糖原储积 HP:0500030
- 甲状腺功能减退症 HP:0000821
- 神经纤维瘤 HP:0001067
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）