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  3. Warfarin syndrome
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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


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

Orpha Number: 1914

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: 10/1/2017

Symptoms Symptoms


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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.

Showing of 26 |
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
Seizure 0001250
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
Showing of 26 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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