Richieri Costa-da Silva综合征
Richieri Costa-da Silva syndrome
ORPHA:3101疾病
定义 英文原文（暂无中文）
Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertrophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.
别名
肌强直-智力障碍-骨骼异常综合征
基本事实
- 发病年龄
- 儿童期
- 患病率
- <1 / 1 000 000
临床表型 36
极常见 99–80%8
- 广泛性骨矿质密度降低 HP:0006462
- 抓握性肌强直 HP:0012899
- 极重度智力障碍 HP:0002187
- 间歇性痛性肌痉挛 HP:0011964
- 脊柱后侧凸 HP:0002751
- 上肢肌强直 HP:0012903
- 鸡胸 HP:0000768
- 身材矮小 HP:0004322
常见 79–30%8
- 腰椎椎体前后径减小 HP:0005638
- 下肢远端肌无力 HP:0009053
- 吞咽困难 HP:0002015
- 肌电图:肌纤维颤搐放电 HP:0100288
- 跌倒 HP:0002527
- 骨骼肌肥大 HP:0003712
- 椎体楔形变 HP:0008422
- 嗓音微弱 HP:0001621
偶见 29–5%9
- 神经反射消失 HP:0001284
- 不对称的肢体肌肉僵硬 HP:0007156
- 椎体鸟喙样改变 HP:0004568
- 肌量减少 HP:0003199
- 内斜视 HP:0000565
- 膝外翻 HP:0002857
- 腱反射减弱 HP:0001265
- 行走不能 HP:0002540
- 跖内收 HP:0001840
排除 0%11
- 牙列异常 HP:0000164
- 声音异常尖锐 HP:0001620
- 眼睑裂狭小 HP:0000581
- 腹直肌分离 HP:0001540
- 扁平脸 HP:0012368
- 关节脱位 HP:0001373
- 关节活动受限 HP:0001376
- 前发际低 HP:0000294
- 低位耳 HP:0000369
- 小口畸形 HP:0000160
- 短颈 HP:0000470
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）