小耳畸形
Microtia
ORPHA:83463疾病
定义 英文原文（暂无中文）
A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-5 / 10 000（Specific population）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| HOXA2 | homeobox A2 | Disease-causing germline mutation(s) in |
临床表型 9
必现 100%1
- 小耳畸形 HP:0008551
极常见 99–80%1
- 单侧传导性听力受损 HP:0040119
常见 79–30%5
- 耳廓形态异常 HP:0000377
- 无耳畸形 HP:0009892
- 外耳道闭锁 HP:0000413
- 语言发育迟缓 HP:0000750
- 耳轮发育不全 HP:0008589
偶见 29–5%2
- 注意力缺陷多动障碍 HP:0007018
- 前脑无裂畸形 HP:0001360
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）