非典型Rett综合征
Atypical Rett syndrome
定义 英文原文（暂无中文）
A rare genetic neurological disorder characterized by the presence of two or more of the main criteria for classic Rett syndrome (loss of acquired purposeful hand skills, loss of acquired spoken language, gait abnormalities, stereotypic hand movements), a period of regression followed by recovery or stabilization, and five out of eleven supportive criteria (breathing difficulties, bruxism, impaired sleep pattern, abnormal muscle tone, peripheral vasomotor disturbances, scoliosis/kyphosis, delayed growth, small cold hands and feet, inappropriate laughter or screaming spells, decreased pain sensation, and intense eye communication). Like classic Rett syndrome, it almost exclusively affects girls, while the disease course may be either milder or more severe.
别名
Rett综合征变体
基本事实
- 遗传方式
- 常染色体显性、X 连锁显性
- 发病年龄
- 新生儿期
- 患病率
- 1-9 / 100 000
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CDKL5 | cyclin dependent kinase like 5 | Disease-causing germline mutation(s) in |
| SMC1A | structural maintenance of chromosomes 1A | Disease-causing germline mutation(s) in |
| MECP2 | methyl-CpG binding protein 2 | Disease-causing germline mutation(s) in |
| NTNG1 | netrin G1 | Disease-causing germline mutation(s) in |
| GABBR2 | gamma-aminobutyric acid type B receptor subunit 2 | Disease-causing germline mutation(s) in |
临床表型 54
极常见 99–80%16
- 呼吸模式异常 HP:0002793
- 运动异常 HP:0100022
- 焦虑不安 HP:0000713
- 自闭症行为 HP:0000729
- 发育倒退 HP:0002376
- 脑电图异常 HP:0002353
- 喂养困难 HP:0011968
- 功能性运动障碍 HP:0004302
- 步态异常 HP:0001288
- 智力障碍 HP:0001249
- 不自主运动 HP:0004305
- 言语不能 HP:0002371
- 减少目光接触 HP:0000817
- 癫痫发作 HP:0001250
- 睡眠异常 HP:0002360
- 刻板性手部扭动 HP:0012171
常见 79–30%22
- 肌张力异常 HP:0003808
- 失用 HP:0002186
- 肌张力障碍 HP:0001332
- 阵发性呼吸急促 HP:0002876
- 胃肠道功能异常 HP:0012719
- 共济失调步态 HP:0002066
- 手失用症 HP:0032588
- 肌张力减退 HP:0001252
- 行走不能 HP:0002540
- 肢体肌阵挛 HP:0045084
- 丧失行走能力 HP:0002505
- 缄默症 HP:0002300
- 新生儿癫痫发作 HP:0032807
- 社交反应能力下降 HP:0012760
- 限制性行为 HP:0000723
- 继发性小头畸形 HP:0005484
- 严重的全面性发育迟缓 HP:0011344
- 短足 HP:0001773
- 小手 HP:0200055
- 痉挛 HP:0001257
- 突然发作性呼吸暂停 HP:0002882
- 吐舌习惯 HP:0100703
偶见 29–5%15
- 粗大运动发育迟缓 HP:0002194
- 发育停滞 HP:0007281
- 全面性肌阵挛发作 HP:0002123
- 生长延迟 HP:0001510
- 痛觉障碍 HP:0007328
- 不合时宜的哭泣 HP:0030215
- 不适宜的发笑 HP:0000748
- 婴儿痉挛 HP:0012469
- 轻度智力障碍 HP:0001256
- 脊柱后凸畸形（驼背） HP:0002808
- 新生儿肌张力减退 HP:0001319
- 惊恐发作（急性焦虑发作） HP:0025269
- 搓丸样震颤 HP:0025387
- 脊柱侧弯 HP:0002650
- 震颤 HP:0001337
排除 0%1
- 全眼肌麻痹 HP:0007824
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）