唇腭裂
Cleft lip/palate
ORPHA:199306疾病
定义
唇腭裂是一种发生于上唇、鼻基底、牙槽嵴及软硬腭的裂隙型胚胎病。
别名
唇裂-牙槽突裂-腭裂综合征
基本事实
- 遗传方式
- 多基因/多因素
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 13
| 基因 | 名称 | 关联类型 |
|---|---|---|
| NECTIN1 | nectin cell adhesion molecule 1 | Major susceptibility factor in |
| CDH1 | cadherin 1 | Major susceptibility factor in |
| TP63 | tumor protein p63 | Major susceptibility factor in |
| IRF6 | interferon regulatory factor 6 | Major susceptibility factor in |
| MSX1 | msh homeobox 1 | Major susceptibility factor in |
| PDGFRA | platelet derived growth factor receptor alpha | Major susceptibility factor in |
| BMP4 | bone morphogenetic protein 4 | Major susceptibility factor in |
| DLX4 | distal-less homeobox 4 | Disease-causing germline mutation(s) in |
| DLG1 | discs large MAGUK scaffold protein 1 | Major susceptibility factor in |
| ARHGAP29 | Rho GTPase activating protein 29 | Major susceptibility factor in |
| RIC1 | RIC1 partner of RAB6A GEF complex | Major susceptibility factor in |
| COBLL1 | cordon-bleu WH2 repeat protein like 1 | Major susceptibility factor in |
| ARHGEF38 | Rho guanine nucleotide exchange factor 38 | Major susceptibility factor in |
临床表型 21
极常见 99–80%1
- 牙萌出异常 HP:0006292
常见 79–30%10
- 腭裂 HP:0000175
- 语言发育迟缓 HP:0000750
- 婴儿期喂养困难 HP:0008872
- 口咽部吞咽困难 HP:0200136
- 口面裂 HP:0000202
- 吸吮无力 HP:0002033
- 反复发作型中耳炎 HP:0000403
- 言语表达困难 HP:0009088
- 单侧腭裂 HP:0100334
- 腭咽机能不全 HP:0000220
偶见 29–5%9
- 恒牙数目异常 HP:0011044
- 侧切牙发育不全 HP:0200153
- 双侧腭裂 HP:0100337
- 传导性听力受损 HP:0000405
- 牙齿错位咬合 HP:0000689
- 鼻音过重的言语 HP:0001611
- 营养不良 HP:0004395
- 腭瘘 HP:0010294
- 钉形上颌侧切牙 HP:0006342
罕见 <4–1%1
- 上颌骨发育不全 HP:0000327
外部标识与链接
OrphanetOMIM:119530OMIM:129400OMIM:225060MONDO:0016044ICD-10 Q37.0、Q37.1、Q37.2、Q37.3ICD-11 LA40、LA42ClinicalTrials.gov 检索
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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）