髋关节发育不良，Beukes型
Hip dysplasia, Beukes type
ORPHA:2114疾病
定义 英文原文（暂无中文）
A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.
别名
髋关节发育不良，Beukes型
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000（Europe）
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| UFSP2 | UFM1 specific peptidase 2 | Disease-causing germline mutation(s) in |
临床表型 11
极常见 99–80%8
- 骨化异常 HP:0011849
- 股骨颈和股骨头骨化异常 HP:0009107
- 骨密度异常 HP:0004348
- 骨骺形态异常 HP:0005930
- 股骨头骨骺异常 HP:0010574
- 股骨颈变宽 HP:0006429
- 髋关节发育不良 HP:0001385
- 骨关节炎 HP:0002758
偶见 29–5%3
- 髋内翻 HP:0002812
- 脊柱后凸畸形（驼背） HP:0002808
- 脊柱侧弯 HP:0002650
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）