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

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.

Visit the Orphanet disease page for more resources.

Last updated: 10/2/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Epiphyseal stippling	Speckled calcifications in end part of bone	0010655
Punctate vertebral calcifications		0008420
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
30%-79% of people have these symptoms
Brachydactyly	Short fingers or toes	0001156
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Respiratory insufficiency	Respiratory impairment	0002093
Short distal phalanx of finger	Short outermost finger bone	0009882
Short neck	Decreased length of neck	0000470
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology		0030680
Aplasia/Hypoplasia affecting the eye	Absent/small eye Absent/underdeveloped eye [ more ]	0008056
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Muscular hypotonia	Low or weak muscle tone	0001252
Myelomeningocele		0002475
Optic atrophy		0000648
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Seizures	Seizure	0001250
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505

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Last updated: 12/1/2018

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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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