Hereditary arterial and articular multiple calcification syndrome

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ORPHA:289601OMIM:211800I77.8
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Overview

Hereditary arterial and articular multiple calcification syndrome (HAAMCS) is an extremely rare genetic condition in which calcium builds up abnormally in the walls of arteries (blood vessels) and in the joints. This calcium buildup, called calcification, can stiffen the arteries and damage the joints over time. The condition is sometimes grouped with or related to generalized arterial calcification of infancy (GACI), though it can present with a broader range of features including joint involvement. The arterial calcification can lead to narrowing and hardening of blood vessels, which may cause high blood pressure, poor blood flow to organs, and in severe cases, heart failure. Joint calcification can cause stiffness, pain, and reduced range of motion. Symptoms can appear in infancy or early childhood, though the age of onset and severity can vary. Some patients may also develop skin and soft tissue calcification. There is currently no cure for this condition. Treatment focuses on managing symptoms and complications. This may include medications to control blood pressure, bisphosphonates (drugs that may help slow calcification), and physical therapy to maintain joint mobility. Regular monitoring by a team of specialists is essential. Because the disease is so rare, much of the treatment approach is based on experience with related calcification disorders rather than large clinical trials.

Also known as:

Key symptoms:

Hardening and stiffening of arteriesCalcium deposits in blood vessel wallsJoint stiffness and painCalcium buildup in and around jointsHigh blood pressurePoor blood circulationHeart failure in severe casesReduced range of motion in jointsShortness of breathFatigue and low energySwelling in the legs or feetSkin calcification or hard lumps under the skin

Clinical phenotype terms (7)
Arterial calcificationHP:0003207Abnormal cardiovascular system physiologyHP:0011025Abnormal vascular morphologyHP:0025015Arterial occlusionHP:0025324Decreased serum creatinineHP:0012101Coronary artery calcificationHP:0001717Arterial tortuosityHP:0005116
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Hereditary arterial and articular multiple calcification syndrome.

View clinical trials →

No actively recruiting trials found for Hereditary arterial and articular multiple calcification syndrome at this time.

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Specialists

1 foundView all specialists →
AM
Adeline Vanderver, MD
Los Angeles, California
Specialist

Rare Disease Specialist

PI on 4 active trials1 Hereditary arterial and articular multiple calcification syndrome publication

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 Hereditary arterial and articular multiple calcification syndrome.

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Community

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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.How severe is the calcification in my (or my child's) arteries and joints right now?,Would bisphosphonate therapy be appropriate, and what are the risks and benefits?,How often should we have imaging and heart function tests?,Are there any clinical trials or new treatments being studied for this condition?,What physical activities are safe, and should we work with a physical therapist?,Should other family members be tested for this genetic condition?,What emergency warning signs should I watch for at home?

Common questions about Hereditary arterial and articular multiple calcification syndrome

What is Hereditary arterial and articular multiple calcification syndrome?

Hereditary arterial and articular multiple calcification syndrome (HAAMCS) is an extremely rare genetic condition in which calcium builds up abnormally in the walls of arteries (blood vessels) and in the joints. This calcium buildup, called calcification, can stiffen the arteries and damage the joints over time. The condition is sometimes grouped with or related to generalized arterial calcification of infancy (GACI), though it can present with a broader range of features including joint involvement. The arterial calcification can lead to narrowing and hardening of blood vessels, which may ca

How is Hereditary arterial and articular multiple calcification syndrome inherited?

Hereditary arterial and articular multiple calcification syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Hereditary arterial and articular multiple calcification syndrome?

1 specialists and care centers treating Hereditary arterial and articular multiple calcification syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.