Methimazole embryofetopathy

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Synonyms: MMI/CMZ embryofetopathy | MMI/CMZ embryopathy | Methimazole/carbimazole embryofetopathy | Methimazole/carbimazole embryopathy

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version May 2024

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