OBSOLETE: Mandibular arteriovenous malformation

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ORPHA:141174
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Overview

Mandibular arteriovenous malformation (AVM) is a rare vascular condition in which abnormal connections form between arteries and veins within the jawbone (mandible). Normally, blood flows from arteries through tiny capillaries before reaching veins. In an AVM, blood bypasses these capillaries and flows directly from arteries to veins, creating a tangled mass of abnormal blood vessels. This can weaken the jawbone, cause swelling, pain, and lead to serious bleeding — sometimes triggered by something as routine as a dental procedure or tooth loss. Symptoms can include a pulsating sensation in the jaw, swelling of the face or gums, loose teeth, spontaneous gum bleeding, and numbness or tingling in the lower lip or chin. In some cases, the malformation may be present from birth but not cause noticeable problems until later in childhood or adulthood when it grows or is accidentally disturbed. This condition has been marked as 'OBSOLETE' in the Orphanet classification, meaning it may now be categorized under a broader group of arteriovenous malformations or vascular anomalies. Treatment typically involves a combination of embolization (blocking the abnormal blood vessels using special materials delivered through a catheter) and surgical removal. Management requires a specialized multidisciplinary team because of the risk of life-threatening hemorrhage. Early diagnosis and careful planning before any dental or surgical procedures involving the jaw are essential to prevent dangerous bleeding episodes.

Also known as:

Key symptoms:

Pulsating or throbbing sensation in the jawSwelling of the jaw or faceSpontaneous bleeding from the gumsLoose teeth without obvious causeNumbness or tingling in the lower lip or chinPain in the jaw areaWarm feeling over the affected areaVisible swelling inside the mouthHeavy bleeding after tooth extraction or dental workA buzzing or humming sound heard near the jawDiscoloration of the gums or overlying skinDifficulty chewing

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: Mandibular arteriovenous malformation.

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No actively recruiting trials found for OBSOLETE: Mandibular arteriovenous malformation at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: Mandibular arteriovenous malformation community →

No specialists are currently listed for OBSOLETE: Mandibular arteriovenous malformation.

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: Mandibular arteriovenous malformation.

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Community

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Latest news about OBSOLETE: Mandibular arteriovenous malformation

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

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.What is the size and extent of the AVM in my jaw, and how does that affect my treatment options?,What are the risks of embolization and surgery for my specific case?,How should I handle routine dental care safely?,What are the warning signs of a bleeding emergency, and what should I do if one occurs?,Is there a chance this could be part of a genetic syndrome, and should I have genetic testing?,How often will I need follow-up imaging to check for recurrence?,Are there any clinical trials or new treatments I should know about?

Common questions about OBSOLETE: Mandibular arteriovenous malformation

What is OBSOLETE: Mandibular arteriovenous malformation?

Mandibular arteriovenous malformation (AVM) is a rare vascular condition in which abnormal connections form between arteries and veins within the jawbone (mandible). Normally, blood flows from arteries through tiny capillaries before reaching veins. In an AVM, blood bypasses these capillaries and flows directly from arteries to veins, creating a tangled mass of abnormal blood vessels. This can weaken the jawbone, cause swelling, pain, and lead to serious bleeding — sometimes triggered by something as routine as a dental procedure or tooth loss. Symptoms can include a pulsating sensation in th

How is OBSOLETE: Mandibular arteriovenous malformation inherited?

OBSOLETE: Mandibular arteriovenous malformation follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.