Overview
Aneurysm-osteoarthritis syndrome (AOS), also known as Loeys-Dietz syndrome type 3, is a rare genetic connective tissue disorder that affects blood vessels, joints, and other parts of the body. The condition is caused by changes (mutations) in the SMAD3 gene, which plays an important role in how the body builds and maintains connective tissue — the material that holds your body's structures together. The most serious feature of this condition is the formation of aneurysms, which are balloon-like bulges in the walls of arteries. These most commonly affect the aorta, the large blood vessel that carries blood from the heart to the rest of the body. Aneurysms can grow over time and may tear or rupture, which is a life-threatening emergency. In addition to vascular problems, people with AOS often develop early-onset osteoarthritis, meaning their joints wear down and become painful much earlier in life than usual — sometimes in their twenties or thirties. Other features can include mild skeletal abnormalities, skin changes, and problems with other organs. Treatment focuses on monitoring the blood vessels with regular imaging, using medications to reduce stress on the aorta, and surgery when aneurysms reach a dangerous size. Joint symptoms are managed with pain relief, physical therapy, and sometimes joint replacement surgery. Early diagnosis and ongoing monitoring by a team of specialists are essential to managing this condition and reducing the risk of serious complications.
Key symptoms:
Enlargement or bulging of the aorta (aortic aneurysm)Aneurysms in other arteries throughout the bodyAortic dissection (tearing of the aorta wall)Early-onset joint pain and stiffness (osteoarthritis)Joint degeneration, especially in knees, hips, and spineAbnormal curvature of the spine (scoliosis or kyphosis)Flat feetJoint hypermobility (unusually flexible joints)Hernias (inguinal or umbilical)Thin or stretchy skinEasy bruisingBone fractures with mild traumaHeart valve problems (mitral valve prolapse)Tortuous or winding arteries
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Aneurysm-osteoarthritis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Aneurysm-osteoarthritis syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Aneurysm-osteoarthritis syndrome.
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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.How often should I have imaging of my aorta and other blood vessels?,What size of aneurysm would require surgery, and what type of surgery would be recommended?,Which medications should I take to protect my blood vessels, and are there any I should avoid?,What types of physical activity are safe for me, and what should I avoid?,Should my family members be tested for this condition?,What are the warning signs of an emergency that I should watch for?,What can be done to manage my joint pain and slow down the osteoarthritis?
Common questions about Aneurysm-osteoarthritis syndrome
What is Aneurysm-osteoarthritis syndrome?
Aneurysm-osteoarthritis syndrome (AOS), also known as Loeys-Dietz syndrome type 3, is a rare genetic connective tissue disorder that affects blood vessels, joints, and other parts of the body. The condition is caused by changes (mutations) in the SMAD3 gene, which plays an important role in how the body builds and maintains connective tissue — the material that holds your body's structures together. The most serious feature of this condition is the formation of aneurysms, which are balloon-like bulges in the walls of arteries. These most commonly affect the aorta, the large blood vessel that
How is Aneurysm-osteoarthritis syndrome inherited?
Aneurysm-osteoarthritis syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.