Methimazole embryofetopathy

Orpha code: 1923OMIM code:

Definition

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
Classification

Malformation syndrome

Synonyms
MMI/CMZ embryofetopathy
Embriopatia metimazolowa/karbamizolowa
Embriofetopatia metimazolowa/karbamizolowa
MMI/CMZ embryopathy
Methimazole/carbimazole embryofetopathy
Methimazole/carbimazole embryopathy
ORPHA code
1923
OMIM code
-
ICD10 code
Q86.8
ICD11 code
LD2F.0Y

No additional description.

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