McDonough 综合征
McDonough syndrome
ORPHA:2471疾病
定义 英文原文（暂无中文）
McDonough syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism. There have been no further descriptions in the literature since 1984.
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 27
极常见 99–80%13
- 心血管系统形态异常 HP:0030680
- 腹壁肌群发育不良/发育不全 HP:0010318
- 智力障碍 HP:0001249
- 脊柱后凸畸形（驼背） HP:0002808
- 巨耳畸形 HP:0000400
- 开牙合 HP:0010807
- 鼻前突 HP:0000448
- 眶上嵴突出 HP:0000336
- 招风耳 HP:0000411
- 脊柱侧弯 HP:0002650
- 身材矮小 HP:0004322
- 斜视 HP:0000486
- 连眉 HP:0000664
常见 79–30%14
- 腭形态异常 HP:0000174
- 双侧单掌横折痕 HP:0007598
- 恶病质 HP:0004326
- 隐睾 HP:0000028
- 牙齿错位咬合 HP:0000689
- 眼距过宽 HP:0000316
- 下颌前突 HP:0000303
- 小下颌 HP:0000347
- 漏斗胸 HP:0000767
- 后旋耳 HP:0000358
- 上睑下垂 HP:0000508
- 短睑裂 HP:0012745
- 人中短 HP:0000322
- 鼻翼发育不全 HP:0000430
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）