微缩型前脑无裂畸形
Microform holoprosencephaly
ORPHA:280200疾病
定义
微小前脑无裂畸形是一种良性的前脑无裂畸形（HPE，见本术语），以中线缺陷为特征，无典型的HPE脑裂缺陷。
别名
微型前脑无裂畸形
基本事实
- 遗传方式
- 多基因/多因素
- 发病年龄
- 儿童期、婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 16
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PTCH1 | patched 1 | Disease-causing germline mutation(s) in |
| SHH | sonic hedgehog signaling molecule | Disease-causing germline mutation(s) in |
| SIX3 | SIX homeobox 3 | Disease-causing germline mutation(s) in |
| SUFU | SUFU negative regulator of hedgehog signaling | Candidate gene tested in |
| TGIF1 | TGFB induced factor homeobox 1 | Disease-causing germline mutation(s) in |
| ZIC2 | Zic family zinc finger 2 | Disease-causing germline mutation(s) in |
| FGFR1 | fibroblast growth factor receptor 1 | Candidate gene tested in |
| GLI2 | GLI family zinc finger 2 | Disease-causing germline mutation(s) in |
| CRIPTO | cripto, EGF-CFC family member | Disease-causing germline mutation(s) in |
| FOXH1 | forkhead box H1 | Disease-causing germline mutation(s) in |
| FGF8 | fibroblast growth factor 8 | Disease-causing germline mutation(s) in |
| DISP1 | dispatched RND transporter family member 1 | Disease-causing germline mutation(s) in |
| CDON | cell adhesion associated, oncogene regulated | Disease-causing germline mutation(s) in |
| NODAL | nodal growth differentiation factor | Disease-causing germline mutation(s) in |
| DLL1 | delta like canonical Notch ligand 1 | Disease-causing germline mutation(s) in |
| GAS1 | growth arrest specific 1 | Disease-causing germline mutation(s) in |
临床表型 35
极常见 99–80%3
- 鼻后孔闭锁 HP:0000453
- 中鼻道狭窄 HP:0010644
- 单个上门齿 HP:0006315
常见 79–30%9
- 眼距过窄 HP:0000601
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 小头畸形 HP:0000252
- 鼻梁狭窄 HP:0000446
- 早产 HP:0001622
- 人中短 HP:0000322
- 身材矮小 HP:0004322
- 帐篷状上唇 HP:0010804
偶见 29–5%23
- 心血管系统形态异常 HP:0030680
- 胼胝体发育不全 HP:0001274
- 外阴性别不明 HP:0000062
- 鼻孔前翻 HP:0000463
- 哮喘 HP:0002099
- 腭裂 HP:0000175
- 独眼 HP:0009914
- 十二指肠闭锁 HP:0002247
- EMG:肌病样异常 HP:0003458
- 血管瘤 HP:0001028
- 前脑无裂畸形 HP:0001360
- 阴茎发育不良 HP:0008736
- 甲状腺功能减退症 HP:0000821
- 虹膜缺损 HP:0000612
- 母体糖尿病 HP:0009800
- 口面裂 HP:0000202
- 全垂体功能减退 HP:0000871
- 肾缺如 HP:0000104
- 脊柱侧弯 HP:0002650
- 癫痫发作 HP:0001250
- 短鼻 HP:0003196
- 斜视 HP:0000486
- 法洛四联症 HP:0001636
外部标识与链接
OrphanetOMIM:147250OMIM:157170OMIM:609637MONDO:0017219ICD-10 Q04.2ICD-11 LA05.2ClinicalTrials.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）