Wyburn-Mason Syndrome

Wyburn-Mason Syndrome

Ear, Nose, & Throat (ENT)
Brain & Nerve
Contributed byMaulik P. Purohit MD MPHMay 02, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Arteriovenous Aneurysm of Mid-Brain and Retina, Facial Nevi and Mental Changes
  • Bonnet-Dechaume-Blanc Syndrome
  • Retinoencephalofacial Angiomatosis

What is Wyburn-Mason Syndrome? (Definition/Background Information)

  • Wyburn-Mason Syndrome (WMS) 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 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

(Source: Wyburn-Mason Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Wyburn-Mason Syndrome? (Age and Sex Distribution)

  • Wyburn-Mason Syndrome is a rare congenital disorder, with approximately 100 cases being reported in the medical literature 
  • The presentation of symptoms may occur at birth or at any age
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Wyburn-Mason Syndrome? (Predisposing Factors)

  • Currently, no risk factors have been clearly identified for Wyburn-Mason Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Wyburn-Mason Syndrome? (Etiology)

The exact cause of development of Wyburn-Mason Syndrome is not known at the present time.

  • No familial forms of Wyburn-Mason Syndrome have been reported
  • The condition is believed to be caused by abnormalities during the development of organs during the embryonic stage
    • The cells of vessels in the facial, orbital, maxillary or mandibular, and encephalic areas come from three large embryonic regions
    • An embryonic defect in a cellular group before its migration to its final destination may `spread' vascular lesions along the route of migration
    • In the case of Wyburn-Mason Syndrome, the cells depart from the cortex and diencephalon, optic chiasma, optic nerve, retina, sphenoid, maxilla, cheek

(Source: Wyburn-Mason Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

What are the Signs and Symptoms of Wyburn-Mason Syndrome?

The signs and symptoms of Wyburn-Mason Syndrome may vary between affected individuals, and may include the following: 

Very frequently present symptoms in 80-99% of the cases:

  • Dilatation
  • Peripheral arteriovenous fistula
  • Retinal vascular malformation
  • Vascular skin abnormality

Frequently present symptoms in 30-79% of the cases:

  • Cerebral palsy
  • Facial asymmetry
  • Global developmental delay
  • Headache
  • Hemiparesis
  • Visual loss

Occasionally present symptoms in 5-29% of the cases:

  • Abnormality of eye movement
  • Cerebral hemorrhage
  • Epistaxis
  • Gingival bleeding
  • Hearing impairment
  • Irritability
  • Iris hypopigmentation
  • Loss of consciousness
  • Nausea and vomiting
  • Proptosis
  • Subarachnoid hemorrhage
  • Tinnitus

(Source: Wyburn-Mason Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Wyburn-Mason Syndrome Diagnosed?

  • Magnetic resonance imaging (MRI) is the best diagnostic instrument for the diagnosis of Wyburn-Mason Syndrome, and provides information on the extent of the anomalies
  • An arteriogram then allows a more detailed analysis of the angio-architecture of the lesions, revealing the absence of capillary vessels that normally connect arteries and veins

(Source: Wyburn-Mason Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Wyburn-Mason Syndrome?

The potential complications of Wyburn-Mason Syndrome may include:

  • Loss of vision
  • Hemorrhage or bleeding in the brain
  • Thin or weak blood vessels which may lead to the following:
    • Bulges in the blood vessel wall (aneurysm)
    • Rupture of the blood vessels causing internal bleeding
  • Damage to the brain: Enlargement of the blood vessels may displace or compress the brain, preventing the free flow of fluids around the brain. Fluid may start to build up, leading to hydrocephalus. This may cause brain tissue to move up against the skull

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Wyburn-Mason Syndrome Treated?

  • Targeted partial treatment for Wyburn-Mason Syndrome, through the endovascular route, aims to isolate the region at risk of malformation. It can be successful in dentoalveolar and cerebral locations if a particular weakness has been identified using MRI or arteriogram
  • Combined management with embolization and surgery is most often necessary for maxillofacial malformations

(Source: Wyburn-Mason Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

  • Treatment also consists of periodic visits to the doctor to see if the AVMs are changing over time

(Source: Wyburn-Mason Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Wyburn-Mason Syndrome be Prevented?

  • The exact risk factors and cause of Wyburn-Mason Syndrome are not known. Therefore, no preventive methods or guidelines are available
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Regular medical screening at periodic intervals with tests and physical examinations are recommended to monitor the progression of malformations, if any

What is the Prognosis of Wyburn-Mason Syndrome? (Outcomes/Resolutions) 

  • The prognosis of Wyburn-Mason Syndrome is dependent upon the severity of the signs and symptoms and their age of onset
  • The prognosis is guarded, if neurological signs and symptoms are manifested at an early age

Additional and Relevant Useful Information for Wyburn-Mason Syndrome:

  • Wyburn-Mason Syndrome is also as Cerebrofacial Arteriovenous Metameric Syndrome Type 2 (CAMS2)

The following DoveMed website link is a useful resource for additional information:


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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team


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