OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3

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ORPHA:141199
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Overview

Cerebrofacial arteriovenous metameric syndrome type 3 (CAMS 3) is an extremely rare vascular condition that involves abnormal connections between arteries and veins (called arteriovenous malformations or AVMs) in specific areas of the face and brain. The term 'metameric' refers to the idea that these malformations follow a developmental pattern related to segments of the embryo during early growth. In CAMS 3, the arteriovenous malformations typically affect the lower face, jaw area, and parts of the brain that develop from the same embryonic segment. Please note that this condition has been classified as 'OBSOLETE' in the Orphanet database, meaning the classification may have been merged into a broader category or reclassified under a different name, such as cerebrofacial arteriovenous metameric syndrome (CAMS) more generally, or Bonnet-Dechaume-Blanc syndrome depending on the specific features. Symptoms can vary widely but often include visible vascular malformations on the face, bleeding episodes, headaches, and neurological problems depending on the location and size of the brain AVMs. These malformations are typically present from birth, though they may not become apparent until later. Treatment is mainly focused on managing symptoms and may include procedures such as embolization (blocking abnormal blood vessels), surgery, or stereotactic radiosurgery. Because this is such a rare and complex condition, care usually requires a team of specialists working together.

Also known as:

Key symptoms:

Abnormal blood vessel formations on the faceAbnormal blood vessel formations in the brainFacial swelling or visible vascular marksHeadachesSeizuresNosebleeds or bleeding from facial lesionsVision problemsJaw or dental abnormalitiesNeurological deficits such as weakness on one side of the bodyPulsating sensation or bruit (audible blood flow) near affected areasPain in the face or headDifficulty with speech or swallowing if lower face is involved

Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3.

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No actively recruiting trials found for OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3 at this time.

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No specialists are currently listed for OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3.

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 3.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What is the exact location and extent of the arteriovenous malformations in my case?,What is the risk of bleeding or rupture from the brain AVMs?,What treatment options are recommended, and what are the risks and benefits of each?,How often should imaging follow-up be done?,Are there any activities or medications I should avoid?,Should I be referred to a specialized vascular malformation center?,What emergency signs should I watch for, and what should I do if they occur?

Common questions about OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3

What is OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3?

Cerebrofacial arteriovenous metameric syndrome type 3 (CAMS 3) is an extremely rare vascular condition that involves abnormal connections between arteries and veins (called arteriovenous malformations or AVMs) in specific areas of the face and brain. The term 'metameric' refers to the idea that these malformations follow a developmental pattern related to segments of the embryo during early growth. In CAMS 3, the arteriovenous malformations typically affect the lower face, jaw area, and parts of the brain that develop from the same embryonic segment. Please note that this condition has been cl

How is OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3 inherited?

OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3 follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3 typically begin?

Typical onset of OBSOLETE: Cerebrofacial arteriovenous metameric syndrome type 3 is neonatal. Age of onset can vary across affected individuals.