粘膜下腭裂
Submucosal cleft palate
ORPHA:155878疾病
定义 英文原文（暂无中文）
A rare form of cleft palate characterized by congenital muscular diastasis of the soft palate along the midline with an intact oral and nasal mucosal lining. It is diagnosed by the triad of a bifid uvula, a translucent zone in the soft palate, and a bony notch in the posterior edge of the hard palate, all of which may vary in severity. Velopharyngeal insufficiency in the absence of this triad is classified as occult submucosal cleft palate. Patients may be asymptomatic or present with early feeding problems with fluid reflux through the nose, speech problems, recurrent otitis media with effusions, and hearing loss.
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| GRHL3 | grainyhead like transcription factor 3 | Major susceptibility factor in |
| UBB | ubiquitin B | Candidate gene tested in |
临床表型 6
常见 79–30%4
- 悬雍垂裂 HP:0000193
- 鼻音过重的言语 HP:0001611
- 鼻腔返流 HP:0011469
- 黏膜下颚裂 HP:5201016
偶见 29–5%2
- 听力受损 HP:0000365
- 反复发作型中耳炎 HP:0000403
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）