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Disease Profile
Wyburn-Mason syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000
Age of onset
Childhood
ICD-10
Q28.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes; Wyburn Mason syndrome; Bonnet-Decaume-Blanc syndrome;
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
Wyburn Mason's
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.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Peripheral arteriovenous fistula | 0100784 | |
| Retinal vascular malformation | 0007797 | |
| Vascular dilatation |
Wider than typical opening or gap
|
0002617 |
| 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 |
0001263 | |
| Headache |
Headaches
|
0002315 |
| Hemiparesis |
Weakness of one side of body
|
0001269 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
| 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 |
|
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 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- Visit the following Facebook groups related to Wyburn-Mason syndrome:
Wyburn-Mason Syndrome Support Group
Organizations Providing General Support
-
The Aneurysm and AVM Foundation (TAAF)
182 Howard St.
Box 715
San Francisco, CA 94105
Telephone: (510) 464-4540
Fax: (510) 464-4540
E-mail: info@taafonline.org
Website: https://taafonline.org/ -
Vascular Cures
274 Redwood Shores Parkway, #717
Redwood City, CA 94065
Telephone: +1-650-368-6022
E-mail: info@vascularcures.org
Website: https://vascularcures.org/
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Wyburn-Mason syndrome. Click on the link to view a sample search on this topic.
References
- Bidwell AE. Wyburn Mason's Syndrome. Medscape Reference. February 2010; https://emedicine.medscape.com/article/1219502-overview. Accessed 8/27/2012.