Cohen-Gibson syndrome
定义 英文原文（暂无中文）
A rare PRC-2 complex-related overgrowth spectrum disorder characterized by tall stature, intellectual disability (more severe than other diseases-Weaver syndrome and Imagawa-Matsumoto syndome in the spectrum), persistent dysmorphic features (including hypertelorism, large fleshy ears, retrognathia, crease between the mouth and the chin) that remains distinguishable in adulthood, severe musculoskeletal abnormalities (including kyphosis and/or scoliosis, abnormalities of the cervical spine, restricted joint movement and unusually large hands). Cardiac problems, cryptorchidism and umbilical hernias are more frequent whereas presence of tumors is less frequent compared to other diseases in the spectrum.
别名
EED-related overgrowth syndrome
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| EED | embryonic ectoderm development | Disease-causing germline mutation(s) in |
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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）