神经纤维瘤病-努南综合征
Neurofibromatosis-Noonan syndrome
定义 英文原文（暂无中文）
Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).
别名
神经纤维瘤病1型-努南综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MAP2K2 | mitogen-activated protein kinase kinase 2 | Disease-causing germline mutation(s) in |
| NF1 | neurofibromin 1 | Disease-causing germline mutation(s) in |
临床表型 18
极常见 99–80%13
- 腹壁肌无力 HP:0009023
- 耳轮形态异常 HP:0011039
- 脸部异常 HP:0000271
- 下斜睑裂 HP:0000494
- 眼距过宽 HP:0000316
- 肥厚型心肌病 HP:0001639
- 多发性咖啡斑 HP:0007565
- 后旋耳 HP:0000358
- 上睑下垂 HP:0000508
- 肺动脉瓣狭窄 HP:0001642
- 身材矮小 HP:0004322
- 特定的学习障碍 HP:0001328
- 蹼颈 HP:0000465
常见 79–30%5
- 胸廓形态异常 HP:0000765
- 淋巴系统异常 HP:0100763
- 隐睾 HP:0000028
- 吞咽困难 HP:0002015
- 出血时间延长 HP:0003010
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）