颅端脑发育不良
Craniotelencephalic dysplasia
ORPHA:1528疾病
定义 英文原文（暂无中文）
Craniotelencephalic dysplasia is an extremely rare, genetic developmental defect during embryogenesis syndrome characterized by craniosynostosis with frontal encephalocele and various additional brain anomalies (severe hydrocephalus, agenesis of the corpus callosum, lissencephaly and polymicrogyria, parenchymal cysts, septo-optic dysplasia) resulting in marked cerebral dysfunction, seizures and very severe psychomotor delay. There have been no further descriptions in the literature since 1983.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 15
极常见 99–80%3
- 颅缝早闭 HP:0001363
- 前额突出 HP:0002007
- 全面发育迟缓 HP:0001263
常见 79–30%12
- 胼胝体发育不全 HP:0001274
- 无鼻无脑畸形 HP:0002139
- 小脑发育不全 HP:0001321
- 额筛部脑膨出 HP:0007330
- 脑积水 HP:0000238
- 无脑回畸形 HP:0001339
- 小头畸形 HP:0000252
- 小眼症 HP:0000568
- 视神经萎缩 HP:0000648
- 后旋耳 HP:0000358
- 透明隔-视神经发育不良 HP:0100842
- 视觉障碍 HP:0000505
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）