Imagawa-Matsumoto syndrome
ORPHA:659463疾病暂无中文名
定义 英文原文（暂无中文）
A rare PRC-2 complex-related overgrowth spectrum disorder characterized by generalized pre- and post-natal overgrowth, dysmorphic features (including macrocephaly, prominent forehead, round face, hypertelorism, down-slanting palpebral fissures, and low and broad nasal bridge), intellectual disability, scoliosis, and excessive loose skin. While these clinical features are shared with other diseases-Weaver syndrome and Cohen-Gibson syndrome- in the spectrum), they are less prevalent. Retrognathia, hoarse/low-pitched cry and a low nasal bridge are usually absent.
别名
SUZ12-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 |
|---|---|---|
| SUZ12 | SUZ12 polycomb repressive complex 2 subunit | 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）