肱桡尺骨融合
Isolated humero-radio-ulnar synostosis
ORPHA:3266疾病
定义 英文原文(暂无中文)
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.
别名
肱骨-桡骨-尺骨融合
基本事实
- 遗传方式
- 未知
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 9
极常见 99–80%9
- 掌骨形态异常 HP:0005916
- 拇指形态异常 HP:0001172
- 上尿路异常 HP:0010935
- 输尿管异常 HP:0000069
- 拇指发育不全或发育不良 HP:0009601
- 海绵状血管瘤 HP:0001048
- 肘运动受限 HP:0003070
- 桡尺骨融合 HP:0002974
- 上肢不对称 HP:0100560
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)