巨脑-多小脑回-轴后性多指症-脑积水综合征
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
ORPHA:83473疾病
定义 英文原文（暂无中文）
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.
别名
MPPH综合征
基本事实
- 遗传方式
- 常染色体显性、不适用
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 4
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PIK3R2 | phosphoinositide-3-kinase regulatory subunit 2 | Disease-causing germline mutation(s) in |
| PIK3R2 | phosphoinositide-3-kinase regulatory subunit 2 | Disease-causing somatic mutation(s) in |
| CCND2 | cyclin D2 | Disease-causing germline mutation(s) (gain of function) in |
| AKT3 | AKT serine/threonine kinase 3 | Disease-causing germline mutation(s) in |
临床表型 16
极常见 99–80%5
- 脑积水 HP:0000238
- 巨头畸形 HP:0000256
- 巨脑 HP:0001355
- 多小脑回 HP:0002126
- 轴后多指畸形 HP:0001162
常见 79–30%11
- 心脏间隔异常 HP:0001671
- 肾脏位置异常 HP:0100542
- 鼻形态异常 HP:0005105
- 鼻梁塌陷 HP:0005280
- 额头高 HP:0000348
- 眼距过宽 HP:0000316
- 二尖瓣反流 HP:0001653
- 小口畸形 HP:0000160
- 癫痫发作 HP:0001250
- 内眦距过宽 HP:0000506
- 室间隔缺损 HP:0001629
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）