methimazole embryofetopathy
Findings
No curated finding names methimazole embryofetopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0016017), read 2026-09-29. CC BY 4.0.
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Esophageal atresiaHPOHP:0002032
- Very frequent (80% to 99% of cases)
- HypothyroidismHPOHP:0000821
- Very frequent (80% to 99% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- Very frequent (80% to 99% of cases)
- Tracheoesophageal fistulaHPOHP:0002575
- Very frequent (80% to 99% of cases)
- Abnormal aortic morphologyHPOHP:0001679
- Frequent (30% to 79% of cases)
Show the remaining 1
- Ventricular septal defectHPOHP:0001629
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: methimazole embryofetopathy
- Also called
- Methimazole/carbimazole embryofetopathyMethimazole/carbimazole embryopathyMMI/CMZ embryofetopathyMMI/CMZ embryopathy