Qazi-Markouizos综合征
Qazi-Markouizos syndrome
定义 英文原文（暂无中文）
A rare, genetic, syndromic intellectual disability disorder characterized by non-progressive, congenital, marked, central hypotonia, severe psychomotor delay and intellectual disability, chronic constipation, distended abdomen, abnormal dermatoglyphics, delayed and dysharmonic skeletal maturation, and preponderance of type 2 larger-sized muscle fibers. Additional features include narrow and high-arched palate, prominent nasal root, long philtrum, and open mouth with drooling, as well as variably present cryptorchidism, hypertelorism, and tapered fingers. Seizures and/or an abnormal electroencephalograph may also be associated. There have been no further descriptions in the literature since 1994.
别名
骨骼发育不协调-肌纤维不平衡综合征
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 23
极常见 99–80%6
- 慢性便秘 HP:0012450
- 腕骨骨化延迟 HP:0001216
- 骨骼成熟失调 HP:0200000
- 脑电图异常 HP:0002353
- 婴儿型肌张力减退 HP:0008947
- 严重的全面性发育迟缓 HP:0011344
常见 79–30%4
- 隐睾 HP:0000028
- 反复感染 HP:0002719
- 癫痫发作 HP:0001250
- 锥形指 HP:0001182
偶见 29–5%13
- 腹胀 HP:0003270
- 皮纹异常 HP:0007477
- 宽人中 HP:0000289
- 流涎 HP:0002307
- 腭高而窄 HP:0002705
- 眼距过宽 HP:0000316
- 牙齿发育不全 HP:0000685
- 闭口不能 HP:0000194
- 漏斗胸 HP:0000767
- 鼻梁突出 HP:0000426
- 微甲 HP:0001792
- 斜视 HP:0000486
- 斜颈 HP:0000473
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）