颅缝早闭
Craniosynostosis
ORPHA:1531疾病组
定义 英文原文（暂无中文）
Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、不适用、未知、X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-5 / 10 000（Europe）
相关基因 23来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| CYP26B1 | cytochrome P450 family 26 subfamily B member 1 | ORPHA:293925 |
| FGFR1 | fibroblast growth factor receptor 1 | ORPHA:3366 |
| FGFR2 | fibroblast growth factor receptor 2 | ORPHA:207 |
| FGFR3 | fibroblast growth factor receptor 3 | ORPHA:53271 |
| FREM1 | FRAS1 related extracellular matrix 1 | ORPHA:3366 |
| FUZ | fuzzy planar cell polarity protein | ORPHA:620158 |
| IFT122 | intraflagellar transport 122 | ORPHA:1515 |
| IFT43 | intraflagellar transport 43 | ORPHA:1515 |
| IFT52 | intraflagellar transport 52 | ORPHA:1515 |
| IL11RA | interleukin 11 receptor subunit alpha | ORPHA:284149 |
| KAT6A | lysine acetyltransferase 6A | ORPHA:457193 |
| LRP5 | LDL receptor related protein 5 | ORPHA:178377 |
| MSX2 | msh homeobox 2 | ORPHA:1541 |
| POR | cytochrome p450 oxidoreductase | ORPHA:63269 |
| RECQL4 | RecQ like helicase 4 | ORPHA:1225 |
| RNU12 | RNA, U12 small nuclear | ORPHA:85199 |
| SKI | SKI proto-oncogene | ORPHA:2462 |
| SMO | smoothened, frizzled class receptor | ORPHA:1553 |
| TCF12 | transcription factor 12 | ORPHA:672979 |
| TWIST1 | twist family bHLH transcription factor 1 | ORPHA:794 |
| WDR19 | WD repeat domain 19 | ORPHA:1515 |
| WDR35 | WD repeat domain 35 | ORPHA:1515 |
| ZIC1 | Zic family zinc finger 1 | ORPHA:672985 |
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）