进展性耳聋伴镫骨固定
Progressive deafness with stapes fixation
ORPHA:3235疾病
定义 英文原文（暂无中文）
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis, but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).
别名
进行性听力丧失伴镫骨固定
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期
临床表型 2
极常见 99–80%2
- 双侧传导性听力受损 HP:0008513
- 镫骨固定 HP:0000381
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）