Vitamin K antagonist embryofetopathy

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Synonyms: Vitamin K antagonist embryopathy | Warfarin embryofetopathy | Warfarin embryopathy | di Sala syndrome

Vitamin K antagonist embryofetopathy is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken oral vitamin K antagonists such as warfarin during pregnancy. Vitamin K antagonists are anticoagulant drugs that provide efficient thromboprophylaxis and that can cross the placenta. 5-12 % of infants exposed to warfarin between 6-9 weeks gestation present nasal hypoplasia and skeletal abnormalities including short limbs and digits (brachydactyly) and stippled epiphyses. Warfarin fetopathy with central nervous system abnormalities (hydrocephalus intellectual disability spasticity and hypotonia) or ocular abnormalities (microphthalmia cataract optic atrophy) fetal loss and stillbirth occurs in infants exposed at later gestations. Additional features that have been reported after in utero warfarin exposure include facial dysmorphism (cleft lip and/or palate malformed ears) choanal atresia or stenosis aorta coarctation situs inversus totalis bilobed lungs and ventral midline dysplasia.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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