Sheldon-Hall综合征
Sheldon-Hall syndrome
ORPHA:1147疾病
定义 英文原文（暂无中文）
A form of distal arthrogryposis characterized by multiple congenital non-progressive contractures of the distal joints of the limbs, in the absence of a primary neurological and/or muscle disease, and distinctive facial features, such as a triangular face shape, downslanting palpebral fissures, small mouth and high arched palate.
别名
Freeman-Sheldon综合征变异型
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 新生儿期
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TNNI2 | troponin I2, fast skeletal type | Disease-causing germline mutation(s) in |
| TNNT3 | troponin T3, fast skeletal type | Disease-causing germline mutation(s) in |
| TPM2 | tropomyosin 2 | Disease-causing germline mutation(s) in |
| MYH3 | myosin heavy chain 3 | Disease-causing germline mutation(s) in |
| NALCN | sodium leak channel, non-selective | Disease-causing germline mutation(s) in |
临床表型 20
极常见 99–80%6
- 拇指内收 HP:0001181
- 桡骨发育不良/发育不全 HP:0006501
- 双侧单掌横折痕 HP:0007598
- 关节僵硬 HP:0001387
- 脊柱侧弯 HP:0002650
- 蹼颈 HP:0000465
常见 79–30%14
- 髋骨形态异常 HP:0003272
- 高腭 HP:0000218
- 小下颌 HP:0000347
- 脸狭窄 HP:0000275
- 指交叠 HP:0010557
- 招风耳 HP:0000411
- 圆耳 HP:0100830
- 短颈 HP:0000470
- 身材矮小 HP:0004322
- 跗骨骨性融合 HP:0008368
- 手指尺侧偏斜 HP:0009465
- 手腕向尺侧偏斜 HP:0003049
- 椎体分节缺陷 HP:0003422
- 宽鼻梁 HP:0000431
外部标识与链接
OrphanetOMIM:108120OMIM:601680OMIM:616266MONDO:0011128ICD-10 Q68.8ICD-11 LD26.4YClinicalTrials.gov 检索
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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）