鼻后孔闭锁-听力丧失-心脏缺陷-颅面畸形综合征
Burn-McKeown syndrome
ORPHA:1200疾病
定义 英文原文（暂无中文）
A rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with characteristic cranio-facial dysmorphisms (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. Affected individuals have normal intelligence.
别名
Burn-McKeown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
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TXNL4A | thioredoxin like 4A | Disease-causing germline mutation(s) (loss of function) in |
| POLR1A | RNA polymerase I subunit A | Disease-causing germline mutation(s) in |
临床表型 11
极常见 99–80%3
- 双侧后鼻孔闭锁 HP:0004502
- 眼距过宽 HP:0000316
- 短睑裂 HP:0012745
常见 79–30%2
- 心脏间隔异常 HP:0001671
- 鼻梁突出 HP:0000426
偶见 29–5%6
- 腭形态异常 HP:0000174
- 眼部异常 HP:0000478
- 视力异常 HP:0000504
- 短鼻 HP:0003196
- 身材矮小 HP:0004322
- 宽鼻梁 HP:0000431
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）