OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

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Overview

Cerebrofacial arteriovenous metameric syndrome type 2 (CAMS 2) is a rare vascular condition that affects the blood vessels in the face and brain. In this condition, abnormal tangles of arteries and veins — called arteriovenous malformations, or AVMs — form along a specific developmental pathway known as a 'metamere.' In CAMS 2, these malformations tend to involve the nose, the middle part of the face, and certain areas of the brain, particularly structures in the midline such as the corpus callosum and the cerebellum. The condition is part of a broader group called cerebrofacial arteriovenous metameric syndromes (CAMS), which are classified by the location of the AVMs along the face and brain. It is worth noting that this condition is listed as 'obsolete' in the Orphanet rare disease database, meaning it has been reclassified or merged into a broader diagnostic category. The underlying problem is that blood vessels did not form correctly during early development, leading to direct connections between arteries and veins that bypass normal capillaries. This can cause abnormal blood flow, pressure changes, and risk of bleeding. Symptoms can vary widely depending on where the AVMs are located and how large they are. Some people may have visible changes on the face, while others may experience neurological symptoms such as headaches, seizures, or bleeding in the brain. Because this is a structural vascular problem, treatment focuses on managing the abnormal blood vessels through procedures rather than medications.

Also known as:

Key symptoms:

Abnormal blood vessel tangles (AVMs) in the face and brainVisible red or purple skin lesions on the nose or middle faceHeadaches, sometimes severeSeizuresNosebleeds that are hard to stopNeurological problems such as weakness or numbnessVision changesBleeding in or around the brainDevelopmental or cognitive difficulties in some casesAbnormal sounds (bruits) heard in the head

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2.

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No actively recruiting trials found for OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2 at this time.

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No specialists are currently listed for OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2.

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Community

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Caregiver Resources

NORD Caregiver Resources

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Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Where exactly are my AVMs located, and which ones are at highest risk of bleeding?,Do my AVMs need treatment now, or is watchful waiting appropriate?,What are the risks and benefits of each treatment option — surgery, radiosurgery, or embolization — for my specific case?,How often do I need follow-up imaging, and what type of scan is best?,Are there activities I should avoid because of my AVMs?,What symptoms should prompt me to go to the emergency room immediately?,Is there any genetic testing that might help understand why I developed this condition?

Common questions about OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2

What is OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2?

Cerebrofacial arteriovenous metameric syndrome type 2 (CAMS 2) is a rare vascular condition that affects the blood vessels in the face and brain. In this condition, abnormal tangles of arteries and veins — called arteriovenous malformations, or AVMs — form along a specific developmental pathway known as a 'metamere.' In CAMS 2, these malformations tend to involve the nose, the middle part of the face, and certain areas of the brain, particularly structures in the midline such as the corpus callosum and the cerebellum. The condition is part of a broader group called cerebrofacial arteriovenous

How is OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2 inherited?

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 2 follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.