Noonan综合征样异常伴生长期头发松动
Noonan syndrome-like disorder with loose anagen hair
ORPHA:2701疾病
定义 英文原文（暂无中文）
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.
别名
Tosti综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SHOC2 | SHOC2 leucine rich repeat scaffold protein | Disease-causing germline mutation(s) in |
| PPP1CB | protein phosphatase 1 catalytic subunit beta | Disease-causing germline mutation(s) in |
临床表型 29
极常见 99–80%7
- 骨成熟延迟 HP:0002750
- 后发际低 HP:0002162
- 后旋耳 HP:0000358
- 短鼻 HP:0003196
- 身材矮小 HP:0004322
- 脱发 HP:0002209
- 蹼颈 HP:0000465
常见 79–30%9
- 鼻孔前翻 HP:0000463
- 眉毛发育不全 HP:0100840
- 深人中沟 HP:0002002
- 内眦赘皮 HP:0000286
- 脑积水 HP:0000238
- 肥厚型心肌病 HP:0001639
- 巨耳畸形 HP:0000400
- 漏斗胸 HP:0000767
- 肺动脉瓣狭窄 HP:0001642
偶见 29–5%13
- 指甲形态异常 HP:0001231
- 椎间盘形态异常 HP:0005108
- 腭形态异常 HP:0000174
- 肘部异常 HP:0009811
- 短指（趾） HP:0001156
- 龋齿 HP:0000670
- 隐睾 HP:0000028
- 听力受损 HP:0000365
- 眼距过宽 HP:0000316
- 趾甲发育不良 HP:0001800
- 智力障碍 HP:0001249
- 厚下红唇 HP:0000179
- 下红唇薄 HP:0000233
外部标识与链接
OrphanetOMIM:607721OMIM:617506MONDO:0011899GARD:10719ICD-10 Q87.1ICD-11 LD2F.1YClinicalTrials.gov 检索
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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）