甲巯咪唑胚胎胎儿病
Methimazole embryofetopathy
ORPHA:1923疾病
定义 英文原文（暂无中文）
A teratogenic embryofetopathy that results from maternal exposition to methimazole (MMI; or the parent compound carbimazole) in the first trimester of pregnancy. MMI is an antithyroid thionamide drug used for the treatment of Graves' disease. In the infant, MMI may result in choanal atresia, esophageal atresia, omphalocele, omphalomesenteric duct anomalies, congenital heart disease (such as ventricular septal defect), renal system malformations and aplasia cutis. Additional features that may be observed include facial dysmorphism (short upslanting palpebral fissures, a broad nasal bridge with a small nose and a broad forehead) and athelia/hypothelia.
别名
甲巯咪唑/卡比马唑胚胎胎儿病
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 13
极常见 99–80%5
- 食管闭锁 HP:0002032
- 甲状腺功能减退症 HP:0000821
- 胎儿宫内发育迟缓 HP:0001511
- 羊水过多 HP:0001561
- 气管食管瘘 HP:0002575
常见 79–30%8
- 主动脉形态异常 HP:0001679
- 甲状腺异常 HP:0000820
- 鼻后孔闭锁 HP:0000453
- 主动脉缩窄 HP:0001680
- 尿道下裂 HP:0000047
- 颅骨缺损 HP:0001362
- 泌尿生殖道瘘 HP:0100589
- 室间隔缺损 HP:0001629
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）