Cooper-Jabs综合征
Cooper-Jabs syndrome
ORPHA:1488疾病
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.
别名
耳道闭锁-多发性先天性异常-智力障碍综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 26
极常见 99–80%12
- 中耳异常 HP:0000370
- 肛门前置 HP:0001545
- 鼻孔前翻 HP:0000463
- 外耳道闭锁 HP:0000413
- 短头畸形 HP:0000248
- 传导性听力受损 HP:0000405
- 前额突出 HP:0002007
- 智力障碍 HP:0001249
- 颧骨扁平 HP:0000272
- 后旋耳 HP:0000358
- 拇指近置 HP:0009623
- 室间隔缺损 HP:0001629
常见 79–30%14
- 皮纹异常 HP:0007477
- 肋骨形态异常 HP:0000772
- 髋骨形态异常 HP:0003272
- 手指弯曲 HP:0100490
- 先天性膈疝 HP:0000776
- 肌张力减退 HP:0001252
- 关节过度活动 HP:0001382
- 肋骨缺失 HP:0000921
- 骨密度降低 HP:0004349
- 呼吸功能不全 HP:0002093
- 脊柱侧弯 HP:0002650
- 身材矮小 HP:0004322
- 斜视 HP:0000486
- 脐疝 HP:0001537
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）