Kuskokwim综合征
Kuskokwim syndrome
ORPHA:1149疾病
定义 英文原文（暂无中文）
A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
别名
关节挛缩样综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 儿童期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FKBP10 | FKBP prolyl isomerase 10 | Disease-causing germline mutation(s) in |
临床表型 10
极常见 99–80%3
- 髌骨发育不良/发育不全 HP:0006498
- 步态异常 HP:0001288
- 关节僵硬 HP:0001387
常见 79–30%1
- 畸形足 HP:0001883
偶见 29–5%6
- 椎体形态异常 HP:0003312
- 锁骨形态异常 HP:0000889
- 桡骨发育不良/发育不全 HP:0006501
- 黑素细胞痣 HP:0000995
- 腱反射减低 HP:0001315
- 脊柱侧弯 HP:0002650
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）