常染色体隐性遗传脉络膜视网膜病变-小头畸形综合征
Autosomal recessive chorioretinopathy-microcephaly syndrome
定义 英文原文（暂无中文）
A rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.
别名
常染色体隐性遗传脉络膜视网膜病变-小头畸形综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TUBGCP6 | tubulin gamma complex component 6 | Disease-causing germline mutation(s) in |
| PLK4 | polo like kinase 4 | Disease-causing germline mutation(s) in |
| TUBGCP4 | tubulin gamma complex component 4 | Disease-causing germline mutation(s) in |
临床表型 22
极常见 99–80%2
- 视网膜色素异常 HP:0007703
- 小头畸形 HP:0000252
常见 79–30%20
- 睫毛形态异常 HP:0000499
- 神经细胞迁移异常 HP:0002269
- 鼻孔前翻 HP:0000463
- 小脑发育缺陷/发育不全 HP:0007360
- 双侧顶骨部收窄 HP:0004422
- 大脑皮层萎缩 HP:0002120
- 肌张力增高 HP:0001276
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 眼球震颤 HP:0000639
- 视神经萎缩 HP:0000648
- 尖下巴 HP:0000307
- 招风耳 HP:0000411
- 脊柱侧弯 HP:0002650
- 癫痫发作 HP:0001250
- 身材矮小 HP:0004322
- 额头倾斜 HP:0000340
- 斜视 HP:0000486
- 视觉障碍 HP:0000505
- 宽鼻梁 HP:0000431
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）