Overview
Marfan syndrome type 1 (also called Marfan syndrome or MFS) is a genetic connective tissue disorder that affects many parts of the body. Connective tissue acts like the body's glue, providing structure and support to blood vessels, bones, joints, eyes, skin, and internal organs. When this tissue doesn't work properly, it can cause problems throughout the body. The most recognizable features of Marfan syndrome include being unusually tall and thin with long arms, legs, fingers, and toes. However, the most serious complications involve the heart and blood vessels. The aorta — the large artery that carries blood from the heart to the rest of the body — can become enlarged and weakened, which can lead to a life-threatening tear called an aortic dissection. Eye problems, especially lens dislocation, are also very common. Marfan syndrome is caused by changes (mutations) in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Treatment focuses on preventing complications, especially protecting the heart and aorta. With proper monitoring and treatment, most people with Marfan syndrome can live full, active lives. Medications like beta-blockers or angiotensin receptor blockers (such as losartan) are commonly used to reduce stress on the aorta, and surgery may be needed if the aorta becomes too enlarged. Regular check-ups with a team of specialists are essential for managing this condition.
Also known as:
Key symptoms:
Tall, thin body build with long arms and legsLong, slender fingers and toes (arachnodactyly)Enlarged or weakened aorta (aortic root dilation)Heart valve problems, especially mitral valve prolapseDislocated eye lenses (ectopia lentis)Nearsightedness (myopia)Flat feetCurved spine (scoliosis)Sunken or protruding chest (pectus deformity)Joint hypermobility and loose jointsStretch marks on the skin not related to weight changesCrowded teeth and a high-arched palateSpontaneous lung collapse (pneumothorax)Chronic joint and muscle painDural ectasia (widening of the spinal covering)
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
FDA & Trial Timeline
1 eventCentre Hospitalier Universitaire de Nice
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Marfan syndrome type 1.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
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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 Marfan syndrome type 1.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 current size of my aorta, and how often should it be monitored?,Which medications are best for me, and what side effects should I watch for?,What types of physical activity are safe for me, and what should I avoid?,At what point would I need surgery on my aorta, and what does that surgery involve?,Should my family members be tested for Marfan syndrome?,Are there any clinical trials or new treatments I should know about?,What emergency symptoms should I watch for, and what should I do if they occur?
Common questions about Marfan syndrome type 1
What is Marfan syndrome type 1?
Marfan syndrome type 1 (also called Marfan syndrome or MFS) is a genetic connective tissue disorder that affects many parts of the body. Connective tissue acts like the body's glue, providing structure and support to blood vessels, bones, joints, eyes, skin, and internal organs. When this tissue doesn't work properly, it can cause problems throughout the body. The most recognizable features of Marfan syndrome include being unusually tall and thin with long arms, legs, fingers, and toes. However, the most serious complications involve the heart and blood vessels. The aorta — the large artery t
How is Marfan syndrome type 1 inherited?
Marfan syndrome type 1 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Marfan syndrome type 1?
Yes — 1 recruiting clinical trial is currently listed for Marfan syndrome type 1 on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Marfan syndrome type 1?
25 specialists and care centers treating Marfan syndrome type 1 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.