骨内膜骨质增生，Worth型
Endosteal hyperostosis, Worth type
定义 英文原文（暂无中文）
A rare primary bone dysplasia characterized by increased and diffuse skeletal densification, particularly of the cranial vault and tubular long bones, that is not associated with an increased risk of fracture. Craniofacial anomalies usually develop during adolescence and include a prominent forehead, wide and deep mandibles, a flat nasal bridge, taurus palatinus and an increased gonial angle. Neurological complications are present in approximately one fifth of affected patients, usually in the form of entrapment neuropathies such as hearing loss, and are secondary to nerve tissue compression by hyperostotic bone, cerebellar disturbances due to a reduction in size of the posterior cranial fossa or tonsillar herniation, and chronic intracranial hypertension.
别名
常染色体显性遗传性骨硬化，Worth型
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| LRP5 | LDL receptor related protein 5 | Disease-causing germline mutation(s) in |
临床表型 13
极常见 99–80%7
- 皮质骨形态异常 HP:0003103
- 肋骨形态异常 HP:0000772
- 锁骨硬化 HP:0100923
- 颅面骨骨质增生 HP:0004493
- 骨干发育不全 HP:0005019
- 周身性骨硬化 HP:0005789
- 腭隆凸 HP:0100789
常见 79–30%2
- 椎体形态异常 HP:0003312
- 椎体硬化 HP:0100861
偶见 29–5%4
- 面部神经麻痹 HP:0010628
- 下颌前突 HP:0000303
- 眼球震颤 HP:0000639
- 感音神经性听力受损 HP:0000407
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）