半肢畸形骨骺发育异常
Dysplasia epiphysealis hemimelica
ORPHA:1822疾病
定义 英文原文（暂无中文）
A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.
别名
Trevor病
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 青少年期、儿童期
- 患病率
- 1-9 / 1 000 000
临床表型 16
极常见 99–80%10
- 骨骺形态异常 HP:0005930
- 骨骼成熟加速 HP:0005616
- 不对称生长 HP:0100555
- 骨痛 HP:0002653
- 外生骨疣 HP:0100777
- 不规则骨骺 HP:0010582
- 关节僵硬 HP:0001387
- 骨关节炎 HP:0002758
- 扁平足 HP:0001763
- 跗骨骨性融合 HP:0008368
常见 79–30%2
- 膝外翻 HP:0002857
- 膝内翻 HP:0002970
偶见 29–5%4
- 股骨颈形态异常 HP:0003367
- 股骨形态异常 HP:0002823
- 股骨头扁平 HP:0008812
- 复发性骨折 HP:0002757
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）