Gordon综合征
Gordon syndrome
ORPHA:376疾病
定义 英文原文（暂无中文）
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.
别名
先天性指屈曲-腭裂-先天性畸形足综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PIEZO2 | piezo type mechanosensitive ion channel component 2 | Disease-causing germline mutation(s) in |
临床表型 14
极常见 99–80%2
- 手指弯曲 HP:0100490
- 畸形足 HP:0001883
常见 79–30%2
- 肌量减少 HP:0003199
- 高腭 HP:0000218
偶见 29–5%10
- 腭裂 HP:0000175
- 第五指屈指畸形 HP:0004209
- 隐睾 HP:0000028
- 面部不对称 HP:0000324
- 手指并指 HP:0006101
- 听力受损 HP:0000365
- 关节活动受限 HP:0001376
- 漏斗胸 HP:0000767
- 脊柱侧弯 HP:0002650
- 身材矮小 HP:0004322
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）