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Vitamin K-antagonist embryofetopathy

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Congenital warfarin syndrome; Coumarin syndrome; DiSala syndrome; Fetal anticoagulant syndrome; Warfarin embryopathy; Warfarin syndrome
SNOMED CT: Dysmorphism due to warfarin (38323006); Foetal warfarin syndrome (38323006); Fetal warfarin syndrome (38323006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
Concept ID:
Source: Orphanet
clinical entity without genetic inheritance.
Monarch Initiative: MONDO:0016010
Orphanet: ORPHA1914


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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVVitamin K-antagonist embryofetopathy

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