Overview
Marfan syndrome type 2 (also called Marfan syndrome type II or MFS2) is a rare genetic connective tissue disorder that shares many features with classic Marfan syndrome but is caused by a different gene. It is linked to changes in the TGFBR2 gene, which plays a role in how your body builds and maintains connective tissue — the material that holds your body's cells, organs, and tissues together. Because connective tissue is found throughout the body, this condition can affect many different systems, including the heart and blood vessels, the skeleton, and the eyes. People with Marfan syndrome type 2 may be tall and thin with long arms, legs, and fingers. They can develop serious heart and blood vessel problems, especially enlargement (dilation) of the aorta, which is the main artery carrying blood from the heart. If the aorta becomes too stretched, it can tear or rupture, which is a life-threatening emergency. Other common features include joint hypermobility (very flexible joints), scoliosis (curved spine), and eye problems such as nearsightedness. There is significant clinical overlap between Marfan syndrome type 2 and Loeys-Dietz syndrome, and some experts now classify many TGFBR2-related conditions under the Loeys-Dietz syndrome umbrella. Treatment focuses on protecting the heart and aorta through medications like beta-blockers or angiotensin receptor blockers (such as losartan), regular imaging of the aorta, and sometimes preventive surgery to repair or replace a dangerously enlarged aorta. With proper monitoring and treatment, many people with this condition can live full and active lives.
Also known as:
Key symptoms:
Enlargement of the aorta (the main artery from the heart)Tall, thin body buildLong arms, legs, and fingersVery flexible or loose jointsCurved spine (scoliosis)Chest wall deformities (sunken or protruding chest)Nearsightedness or other vision problemsFlat feetStretch marks on the skin without weight changesHeart valve problems, especially mitral valve prolapseAortic dissection or rupture (tearing of the aorta wall)Fatigue or reduced exercise toleranceDural ectasia (widening of the membrane around the spinal cord)
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 Marfan syndrome type 2.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Marfan syndrome type 2 at this time.
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Specialists
View all specialists →No specialists are currently listed for Marfan syndrome type 2.
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 2.
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.How large is my aorta right now, and how often should it be checked?,At what aortic size would you recommend preventive surgery?,Which medications are best for me, and what side effects should I watch for?,What physical activities are safe for me, and which should I avoid?,Should my family members be tested for this condition?,Is my condition more consistent with Marfan syndrome type 2 or Loeys-Dietz syndrome, and does it change my care?,Are there any clinical trials or new treatments I should know about?
Common questions about Marfan syndrome type 2
What is Marfan syndrome type 2?
Marfan syndrome type 2 (also called Marfan syndrome type II or MFS2) is a rare genetic connective tissue disorder that shares many features with classic Marfan syndrome but is caused by a different gene. It is linked to changes in the TGFBR2 gene, which plays a role in how your body builds and maintains connective tissue — the material that holds your body's cells, organs, and tissues together. Because connective tissue is found throughout the body, this condition can affect many different systems, including the heart and blood vessels, the skeleton, and the eyes. People with Marfan syndrome
How is Marfan syndrome type 2 inherited?
Marfan syndrome type 2 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.