耳面颈综合征
Otofaciocervical syndrome
ORPHA:2792疾病
定义 英文原文（暂无中文）
Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.
别名
Fara-Chlupackova综合征
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 23
极常见 99–80%18
- 皮纹异常 HP:0007477
- 异常言语模式 HP:0002167
- 锁骨形态异常 HP:0000889
- 鼻孔前翻 HP:0000463
- 传导性听力受损 HP:0000405
- 鼻梁塌陷 HP:0005280
- 肩下斜 HP:0200021
- 脸颊丰满 HP:0000293
- 全面发育迟缓 HP:0001263
- 高腭 HP:0000218
- 反射亢进 HP:0001347
- 肌张力增高 HP:0001276
- 智力障碍 HP:0001249
- 巨耳畸形 HP:0000400
- 耳前凹陷 HP:0004467
- 招风耳 HP:0000411
- 翼状肩胛 HP:0003691
- 身材矮小 HP:0004322
常见 79–30%2
- 对耳轮形态异常 HP:0009738
- 骨成熟延迟 HP:0002750
偶见 29–5%3
- 外耳道闭锁 HP:0000413
- 面部不对称 HP:0000324
- 肾发育不良/不全 HP:0008678
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）