四肢多发性良性圆周形皮纹
Multiple benign circumferential skin creases on limbs
定义 英文原文（暂无中文）
A rare genetic disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia, among others). Variable additional features have been reported, such as seizures, infantile hypotonia, hearing impairment, strabismus, and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles.
别名
环形皮肤皱襞，Kunze型
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 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 |
|---|---|---|
| MAPRE2 | microtubule associated protein RP/EB family member 2 | Disease-causing germline mutation(s) in |
| TUBB | tubulin beta class I | Disease-causing germline mutation(s) in |
临床表型 30
极常见 99–80%3
- 水肿 HP:0000969
- 皮肤皱褶增多 HP:0007522
- 皮肤增厚 HP:0001072
常见 79–30%2
- 腭裂 HP:0000175
- 不规则色素沉着 HP:0007400
偶见 29–5%25
- 耳廓形态异常 HP:0000377
- 脸部异常 HP:0000271
- 肌肉组织异常 HP:0003011
- 阴囊形态异常 HP:0000045
- 充血性心力衰竭 HP:0001635
- 隐睾 HP:0000028
- 内眦赘皮 HP:0000286
- 全身性多毛症 HP:0002230
- 全面发育迟缓 HP:0001263
- 尿道下裂 HP:0000047
- 腹股沟疝 HP:0000023
- 智力障碍 HP:0001249
- 局灶神经母细胞瘤 HP:0006768
- 长人中 HP:0000343
- 下肢不对称 HP:0100559
- 小头畸形 HP:0000252
- 小角膜 HP:0000482
- 小下颌 HP:0000347
- 小眼症 HP:0000568
- 后旋耳 HP:0000358
- 视网膜病变 HP:0000488
- 身材矮小 HP:0004322
- 小阴囊 HP:0000046
- 脐疝 HP:0001537
- 上肢不对称 HP:0100560
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）