指伸肌腱异常
Extensor tendons of finger anomalies
ORPHA:3294疾病
定义 英文原文(暂无中文)
Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980.
别名
Hapnes-Boman-Skeie综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 6
极常见 99–80%3
- 手指弯曲 HP:0100490
- 多发性脂肪瘤 HP:0001012
- 黄瘤病 HP:0000991
常见 79–30%3
- 关节活动受限 HP:0001376
- 骨质疏松 HP:0000939
- 骨骼肌萎缩 HP:0003202
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)