Disease Information for Wyburn-Mason syndrome

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Clinical Manifestations
Signs & Symptoms
Excess nevi (sign)
Facial Nevi
Mental Deficiency Child
Eye symptoms/signs
Visual Problems
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Aneurysm, cerebral
Aneurysm, retinal
Cerebral AV malformation
Congenital eye disease/eye anomalies
Glaucoma
Mental retardation
Wyburn-Mason syndrome
Disease Mechanism & Classification
Class
CLASS/Ophthalmology Specialty Population
CLASS/Pediatric disorders (ex)
CLASS/Cardiovascular (category)
CLASS/Neurologic (category)
CLASS/Ophthalmology disorders
CLASS/Eye involvement/disorder (ex)
CLASS/Eyes/accessory (category)
CLASS/Retina involvement/disorder (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Anomalies/Deformities/Malformations (EX)
Definition

Wyburn Mason Syndrome; Cerebroretinal Arteriovenous Aneurysm;Wyburn-Mason Syndrome is a rare hereditary disorder characterized by blood vessel (vascular) malformations (ie, arteriovenous aneurysms) of the brain and the nerve-rich, innermost membranes of the eyes (retinas); "birthmarks" or pigmented, facial skin blemishes (facial nevi); and, in some cases, mental changes; An arteriovenous aneurysm is a vascular abnormality in which there is widening (dilation) of the walls of an artery and a vein, with abnormal blood flow (communication) between the blood vessels (ie, between the arterial and venous systems); (Arteries typically carry oxygen-rich blood from the heart to body cells, while veins transport oxygen-deficient blood to the heart and lungs for the exchange of oxygen and carbon dioxide)---------- [NORD 2005]------------------------

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External Links Related to Wyburn-Mason syndrome
Google
Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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