心脏-脊柱-腕-面综合征
Cardiospondylocarpofacial syndrome
ORPHA:3238疾病
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others.
别名
二尖瓣反流-听力丧失-骨骼异常综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 各年龄段
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MAP3K7 | mitogen-activated protein kinase kinase kinase 7 | Disease-causing germline mutation(s) in |
临床表型 11
极常见 99–80%9
- 椎体形态异常 HP:0003312
- 短指（趾） HP:0001156
- 传导性听力受损 HP:0000405
- 腭高而窄 HP:0002705
- 二尖瓣反流 HP:0001653
- 二尖瓣脱垂 HP:0001634
- 严重的身材矮小 HP:0003510
- 短掌 HP:0004279
- 腕骨骨性融合 HP:0005048
常见 79–30%2
- 恒牙萌出失败 HP:0006352
- 牙列不齐 HP:0000692
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）