短肢侏儒症，Mseleni型
Brachydactylous dwarfism, Mseleni type
ORPHA:2619疾病
定义 英文原文（暂无中文）
A rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern KwaZulu-Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short stature and brachydactyly have been reported in a few patients with MJD.
别名
Mseleni 关节病
基本事实
- 遗传方式
- 未知
- 发病年龄
- 儿童期
临床表型 19
极常见 99–80%11
- 脚踝异常 HP:0003028
- 股骨头形态异常 HP:0003368
- 关节疼痛 HP:0002829
- 中远节指（趾）骨缩短 HP:0005872
- 髋关节骨关节炎 HP:0008843
- 膝关节骨性关节炎 HP:0005086
- 多发性骨骺发育不良 HP:0002654
- 骨质减少 HP:0000938
- 扁平椎 HP:0000926
- 严重的身材矮小 HP:0003510
- 短趾 HP:0001831
常见 79–30%5
- 手腕异常 HP:0003019
- 关节半脱位 HP:0032153
- 关节活动受限 HP:0001376
- 肘关节骨性关节炎 HP:0003940
- 肩部僵硬 HP:0009742
偶见 29–5%1
- 髋臼内陷 HP:0003179
排除 0%2
- 自身免疫 HP:0002960
- 炎症反应增强 HP:0012649
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）