National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Wyburn-Mason syndrome


Other Names:
Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes; Wyburn Mason syndrome; Bonnet-Decaume-Blanc syndrome; Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes; Wyburn Mason syndrome; Bonnet-Decaume-Blanc syndrome; CAMS2; Cerebrofacial arteriovenous metameric syndrome type 2 See More
Categories:
Wyburn Mason's syndrome is a condition in which blood vessels do not form correctly in both the retina of one eye and a part of the brain.  These malformed blood vessels are called arteriovenous malformations (AVM).  Wyburn Mason's syndrome is present from birth (congenital) and the cause is unknown.  Individuals with this condition may have additional AVMs in other parts of the body, particularly the face.  The symptoms of this condition are quite variable and depend on the size, location, and shape of the AVMs.  Affected individuals may have no symptoms or may experience headaches, problems with vision, seizures, or partial paralysis (hemiparesis).  Treatment usually consists of periodic visits to the doctor to see if the AVMs are changing over time.[1]
Last updated: 8/27/2012

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 25 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dilatation
Wider than typical opening or gap
0002617
Peripheral arteriovenous fistula 0100784
Retinal vascular malformation 0007797
Vascular skin abnormality 0011276
30%-79% of people have these symptoms
Cerebral palsy 0100021
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Global developmental delay 0001263
Headache
Headaches
0002315
Hemiparesis
Weakness of one side of body
0001269
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Seizure 0001250
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
5%-29% of people have these symptoms
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ] 		0000496
Cerebral hemorrhage
Bleeding in brain
0001342
Dysarthria
Difficulty articulating speech
0001260
Epistaxis
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ] 		0000421
Gingival bleeding
Bleeding gums
0000225
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Iris hypopigmentation
Light eye color
0007730
Irritability
Irritable
0000737
Loss of consciousness
Passing out
0007185
Nausea and vomiting 0002017
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Subarachnoid hemorrhage 0002138
Tinnitus
Ringing in ears
Ringing in the ears
[ more ] 		0000360
Showing of 25 |
Last updated: 7/1/2020

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

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Wyburn-Mason syndrome. Click on the link to view a sample search on this topic.

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. Submit a new question

  • Where can I find a good description of Wyburn Mason's syndrome? See answer


  1. Bidwell AE. Wyburn Mason's Syndrome. Medscape Reference. February 2010; http://emedicine.medscape.com/article/1219502-overview. Accessed 8/27/2012.