耳聋-颅面综合征
Deafness-craniofacial syndrome
ORPHA:3241疾病
定义 英文原文（暂无中文）
Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant.
别名
听力丧失-颅面综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 14
极常见 99–80%9
- 腭形态异常 HP:0000174
- 舌裂 HP:0010297
- 面部不对称 HP:0000324
- 前额突出 HP:0002007
- 感音神经性听力受损 HP:0000407
- 舌系带过短 HP:0000200
- 颞部少毛症 HP:0004524
- 鼻翼发育不全 HP:0000430
- 宽鼻梁 HP:0000431
常见 79–30%5
- 牙列异常 HP:0000164
- 眼睛深陷 HP:0000490
- 动脉导管未闭 HP:0001643
- 人中短 HP:0000322
- 睑裂上斜 HP:0000582
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）