Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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. Disease data Klasyfikacja Malformation syndrome Synonimy MMI/CMZ embryofetopathy Embriopatia metimazolowa/karbamizolowa Embriofetopatia metimazolowa/karbamizolowa MMI/CMZ embryopathy Methimazole/carbimazole embryofetopathy Methimazole/carbimazole embryopathy Kod ORPHA 1923 Kod OMIM - Kod ICD10 Q86.8 Kod ICD11 LD2F.0Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl