syndromic disease methimazole embryofetopathy https://rarediseases.info.nih.gov/diseases/3573/methimazole-antenatal-exposure https://www.malacards.org/card/methimazole_embryofetopathy foetal methimazole syndrome MONDO:0016017 methimazole embryofetopathy MMI/CMZ embryopathy MMI/CMZ embryofetopathy MEDGEN:1388574 Orphanet:1923 UMLS:C4510379 icd11.foundation:1204409156 fetal methimazole syndrome Methimazole/carbimazole embryopathy Methimazole embryopathy is 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. SCTID:724144006 Methimazole/carbimazole embryofetopathy Methimazole antenatal exposure toxic or drug-related embryofetopathy