Spinal arteriovenous metameric syndrome

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Overview

Spinal arteriovenous metameric syndrome (SAMS), also known as Cobb syndrome, is a rare condition where abnormal tangles of blood vessels — called arteriovenous malformations (AVMs) — form along the same spinal segment, affecting the spinal cord, the bones of the spine (vertebrae), and the skin overlying that area. The word 'metameric' refers to the fact that these abnormal vessels follow a specific body segment, meaning the skin, spine, and spinal cord at the same level are all involved. This is what makes SAMS different from other spinal vascular conditions. The abnormal blood vessels can disrupt normal blood flow to the spinal cord, causing a range of neurological symptoms. Because the spinal cord is responsible for sending signals between the brain and the rest of the body, damage to it can affect movement, sensation, bladder and bowel control, and more. Symptoms can appear at any age but are often noticed in young adults. Treatment focuses on managing the abnormal blood vessels through procedures such as embolization (blocking the vessels), surgery, or stereotactic radiosurgery. There is no cure, but early treatment can help prevent worsening disability. A team of specialists is usually needed to manage this complex condition.

Also known as:

Key symptoms:

Weakness or paralysis in the legs or armsNumbness or tingling in the limbs or trunkBack or neck painLoss of bladder or bowel controlDifficulty walking or poor balanceA visible birthmark or port-wine stain on the skin over the spineMuscle stiffness or spasticitySexual dysfunctionSudden worsening of neurological symptoms (due to bleeding)Scoliosis or abnormal spinal curvature

Clinical phenotype terms (20)— hover any for plain English
AngiokeratomaHP:0001014Nevus flammeusHP:0001052Abnormal spinal cord morphologyHP:0002143ParaparesisHP:0002385Spinal arteriovenous malformationHP:0002390Urinary bladder sphincter dysfunctionHP:0002839Cutaneous angiolipomasHP:0006773Arteriovenous malformationHP:0100026Visceral angiomatosisHP:0100761LymphangiomaHP:0100764
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 Spinal arteriovenous metameric syndrome.

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No actively recruiting trials found for Spinal arteriovenous metameric syndrome at this time.

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No specialists are currently listed for Spinal arteriovenous metameric syndrome.

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 Spinal arteriovenous metameric syndrome.

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Community

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Caregiver Resources

NORD Caregiver Resources

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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 extent of my malformation, and which parts of my spine are affected?,What treatment option do you recommend for me, and what are the risks and benefits?,How quickly could my symptoms worsen if I do not have treatment?,What symptoms should prompt me to go to the emergency room immediately?,Will I need ongoing imaging to monitor the malformation over time?,What rehabilitation services are available to help me manage my symptoms?,Are there any clinical trials or specialist centers I should consider?

Common questions about Spinal arteriovenous metameric syndrome

What is Spinal arteriovenous metameric syndrome?

Spinal arteriovenous metameric syndrome (SAMS), also known as Cobb syndrome, is a rare condition where abnormal tangles of blood vessels — called arteriovenous malformations (AVMs) — form along the same spinal segment, affecting the spinal cord, the bones of the spine (vertebrae), and the skin overlying that area. The word 'metameric' refers to the fact that these abnormal vessels follow a specific body segment, meaning the skin, spine, and spinal cord at the same level are all involved. This is what makes SAMS different from other spinal vascular conditions. The abnormal blood vessels can di

How is Spinal arteriovenous metameric syndrome inherited?

Spinal arteriovenous metameric syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.