鳃耳综合征
Branchiootic syndrome
ORPHA:52429疾病
定义 英文原文（暂无中文）
Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 100 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SIX1 | SIX homeobox 1 | Disease-causing germline mutation(s) in |
| EYA1 | EYA transcriptional coactivator and phosphatase 1 | Disease-causing germline mutation(s) in |
临床表型 16
极常见 99–80%2
- 听力受损 HP:0000365
- 耳前凹陷 HP:0004467
常见 79–30%7
- 内耳异常 HP:0000359
- 外耳异常 HP:0000356
- 外耳道闭锁 HP:0000413
- 鳃裂瘘管 HP:0009795
- 传导性听力受损 HP:0000405
- 中耳形态异常 HP:0008609
- 感音神经性听力受损 HP:0000407
偶见 29–5%7
- 鼻泪管系统的异常 HP:0000614
- 腭裂 HP:0000175
- 面部不对称 HP:0000324
- 面部神经麻痹 HP:0010628
- 唇点凹 HP:0100267
- 小下颌 HP:0000347
- 耳前皮赘 HP:0000384
外部标识与链接
OrphanetOMIM:120502OMIM:602588OMIM:608389MONDO:0018878GARD:10148ICD-10 Q87.0ICD-11 LD2F.1YClinicalTrials.gov 检索
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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）