Warfarin syndrome

Title

Other Names:

Warfarin embryopathy; Fetal anticoagulant syndrome; DiSala syndrome; Warfarin embryopathy; Fetal anticoagulant syndrome; DiSala syndrome; Congenital warfarin syndrome; Coumarin syndrome; Vitamin K antagonists embryofetopathy; Coumarin embryopathy; Embryofetopathy due to oral anticoagulant therapy; Fetal warfarin syndrome; di Sala syndrome; Vitamin K-antagonist embryofetopathy; Vitamin K-antagonist embryopathy; Warfarin embryofetopathy See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1914

Disease definition

Embryofetopathy due to oral anticoagulant therapy 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 (coumadin) 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 (see these terms), bilobed lungs, ventral midline dysplasia.

Visit the Orphanet disease page for more resources.

Last updated: 6/15/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Anteverted nares	Very frequent (present in 80%-99% of cases)
Epiphyseal stippling	Very frequent (present in 80%-99% of cases)
Punctate vertebral calcifications	Very frequent (present in 80%-99% of cases)
Short nose	Very frequent (present in 80%-99% of cases)
Brachydactyly	Frequent (present in 30%-79% of cases)
Intellectual disability	Frequent (present in 30%-79% of cases)
Intrauterine growth retardation	Frequent (present in 30%-79% of cases)
Respiratory insufficiency	Frequent (present in 30%-79% of cases)
Short distal phalanx of finger	Frequent (present in 30%-79% of cases)
Short neck	Frequent (present in 30%-79% of cases)
Abnormality of cardiovascular system morphology	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia affecting the eye	Occasional (present in 5%-29% of cases)
Cataract	Occasional (present in 5%-29% of cases)
Choanal atresia	Occasional (present in 5%-29% of cases)
Hearing impairment	Occasional (present in 5%-29% of cases)
Hydrocephalus	Occasional (present in 5%-29% of cases)
Hypertelorism	Occasional (present in 5%-29% of cases)
Microtia	Occasional (present in 5%-29% of cases)
Muscular hypotonia	Occasional (present in 5%-29% of cases)
Myelomeningocele	Occasional (present in 5%-29% of cases)
Optic atrophy	Occasional (present in 5%-29% of cases)
Proptosis	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Visual impairment	Occasional (present in 5%-29% of cases)

Last updated: 9/1/2017

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Warfarin syndrome. Click on the link to view a sample search on this topic.

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