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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.