短指畸形-肘腕发育不良综合征
Brachydactyly-elbow wrist dysplasia syndrome
ORPHA:1275疾病
定义 英文原文（暂无中文）
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
别名
短指畸形-关节发育不良综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PITX1 | paired like homeodomain 1 | Disease-causing germline mutation(s) in |
| MACROH2A1 | macroH2A.1 histone | Disease-causing germline mutation(s) in |
临床表型 11
极常见 99–80%11
- 末节指骨形态异常 HP:0009832
- 指甲形态异常 HP:0001231
- 肱骨形态异常 HP:0031095
- 尺骨形态异常 HP:0040071
- 桡骨发育不良/发育不全 HP:0006501
- 短指（趾） HP:0001156
- 第五指屈指畸形 HP:0004209
- 肘关节脱位 HP:0003042
- 关节僵硬 HP:0001387
- 巨头畸形 HP:0000256
- 腕骨骨性融合 HP:0005048
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）