先天性指屈曲-身材高大-脊椎侧凸-听力丧失综合征
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
ORPHA:85164疾病
定义 英文原文（暂无中文）
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.
别名
先天性指屈曲-身材高大-脊椎侧凸-耳聋综合征
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FGFR3 | fibroblast growth factor receptor 3 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 4
极常见 99–80%4
- 下肢关节异常 HP:0100491
- 手指弯曲 HP:0100490
- 听力受损 HP:0000365
- 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）