异维甲酸综合征
Isotretinoin syndrome
定义 英文原文（暂无中文）
A rare tetrogenic embryofetopathy due to exposure to isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia.
别名
维甲酸胚胎病
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 产前、婴儿期、新生儿期
临床表型 12
极常见 99–80%4
- 外耳异常 HP:0000356
- 肌张力减退 HP:0001252
- 小耳畸形 HP:0008551
- 腱反射减低 HP:0001315
常见 79–30%6
- 双侧顶骨部收窄 HP:0004422
- 腭裂 HP:0000175
- 认知功能损害 HP:0100543
- 鼻梁塌陷 HP:0005280
- 趾甲发育不良 HP:0001800
- 小下颌 HP:0000347
偶见 29–5%2
- 骶骨浅窝 HP:0000960
- 隐性脊柱裂 HP:0003298
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）