黑头粉刺样痣综合征
Nevus comedonicus syndrome
ORPHA:64754疾病
定义 英文原文（暂无中文）
A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 儿童期、婴儿期、新生儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NEK9 | NIMA related kinase 9 | Disease-causing somatic mutation(s) in |
临床表型 16
极常见 99–80%2
- 粉刺 HP:0025249
- 错构瘤 HP:0010566
偶见 29–5%14
- 足部形态异常 HP:0001760
- 椎骨形态异常 HP:0003468
- 毛发形态异常 HP:0001595
- 白内障 HP:0000518
- 手指并指 HP:0006101
- 鱼鳞病 HP:0008064
- 小头畸形 HP:0000252
- 鲜红斑痣 HP:0001052
- 轴前多指（趾） HP:0100258
- 脊柱侧弯 HP:0002650
- 癫痫发作 HP:0001250
- 脊柱裂 HP:0002414
- 隐性脊柱裂 HP:0003298
- 并趾 HP:0001770
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）