枕骨裂脑露畸形
Iniencephaly
ORPHA:63259疾病
定义 英文原文（暂无中文）
A rare neural tube defect characterized by an abnormally short neck, with extreme retroflexion of the head and upward turned face resulting from involvement of the occiput and the inion, which are variably combined with rachischisis of the upper cervical and thoracic spine, leading to the incomplete closure of the vertebral arches and/or even their absence. Patients frequently present with malformations of the central nervous system (spina bifida and/or anencephaly), marked lordosis, and appear to have no neck as the skin of the head is continuous with the chest and the back.
基本事实
- 遗传方式
- 多基因/多因素、不适用
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-5 / 10 000（Europe）
临床表型 31
极常见 99–80%2
- 肢体近端缩短 HP:0008905
- 椎管闭合不全 HP:0010301
常见 79–30%12
- 心血管系统形态异常 HP:0030680
- 椎体缺如 HP:0008465
- 无脑畸形 HP:0002323
- 腹裂 HP:0001543
- 前脑无裂畸形 HP:0001360
- 脊柱前凸过度 HP:0003307
- 低位耳 HP:0000369
- 下颌骨发育不全 HP:0009939
- 小口畸形 HP:0000160
- 羊水过多 HP:0001561
- 摇椅足 HP:0001838
- 脊柱裂 HP:0002414
偶见 29–5%17
- 生殖系统异常 HP:0000078
- 枕骨形态异常 HP:0012294
- 肛门闭锁 HP:0002023
- 先天性多发性关节挛缩 HP:0002804
- 先天性膈疝 HP:0000776
- 囊状水瘤 HP:0000476
- 第四脑室孔闭塞综合征（Dandy-Walker畸形） HP:0001305
- 十二指肠闭锁 HP:0002247
- 脑膨出 HP:0002084
- 脑积水 HP:0000238
- 无脑回畸形 HP:0001339
- 脊髓脊膜膨出 HP:0002475
- 脐膨出 HP:0001539
- 口面裂 HP:0000202
- 肾缺如 HP:0000104
- 脊髓空洞症 HP:0003396
- 马蹄内翻足 HP:0001762
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）