Carey-Fineman-Ziter综合征
Carey-Fineman-Ziter syndrome
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by non-specific or central hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), congenital myopathy, developmental delay and failure to thrive. Intellectual disability have also been reported in some patients. Variable clinical features may include macro/micro or plagiacephaly, facial dysmorphism, brain anomalies, septal defects, respiratory insufficiency, gastrointestinal problems including poor/absent swallowing, joint contactures, tapering fingers, clubfoot and scoliosis.
别名
肌病-Moebius-Robin综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MYMK | myomaker, myoblast fusion factor | Disease-causing germline mutation(s) in |
| MYMX | myomixer, myoblast fusion factor | Disease-causing germline mutation(s) (loss of function) in |
临床表型 36
极常见 99–80%15
- 鼻孔前翻 HP:0000463
- 舌未发育/舌发育不全 HP:0010295
- 短指（趾） HP:0001156
- 下斜睑裂 HP:0000494
- 内眦赘皮 HP:0000286
- 面部神经麻痹 HP:0010628
- 肌张力减退 HP:0001252
- 眼外展障碍 HP:0000634
- 长人中 HP:0000343
- 小下颌 HP:0000347
- 皮埃尔 - 罗宾序列征 HP:0000201
- 上睑下垂 HP:0000508
- 短鼻 HP:0003196
- 骨骼肌萎缩 HP:0003202
- 下红唇薄 HP:0000233
常见 79–30%10
- 腭裂 HP:0000175
- 颅神经麻痹 HP:0006824
- 舌后坠 HP:0000162
- 生长延迟 HP:0001510
- 高腭 HP:0000218
- 智力障碍 HP:0001249
- 小头畸形 HP:0000252
- 脊柱侧弯 HP:0002650
- 身材矮小 HP:0004322
- 马蹄内翻足 HP:0001762
偶见 29–5%11
- 喉部异常 HP:0001600
- 胸大肌发育不全 HP:0009751
- 小脑发育缺陷/发育不全 HP:0007360
- 脑钙化 HP:0002514
- 阴茎头型尿道下裂 HP:0000807
- 肾积水 HP:0000126
- 高血压危象 HP:0100735
- 喉狭窄 HP:0001602
- 肌病 HP:0003198
- 手指尺侧偏斜 HP:0009465
- 巨脑室 HP:0002119
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）