Overview
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene, which encodes fibrillin-1, a major structural component of extracellular microfibrils. Because connective tissue is found throughout the body, Marfan syndrome is a multisystem disorder that primarily affects the cardiovascular, skeletal, and ocular systems. It was first described by Antoine Marfan in 1896 and is one of the most common inherited connective tissue disorders. Cardiovascular manifestations are the most life-threatening and include progressive aortic root dilation, which can lead to aortic dissection or rupture, mitral valve prolapse, and mitral regurgitation. Skeletal features include tall stature with disproportionately long limbs and digits (dolichostenomelia and arachnodactyly), pectus deformities (excavatum or carinatum), scoliosis, joint hypermobility, and a reduced upper-to-lower body segment ratio. Ocular findings characteristically include ectopia lentis (lens subluxation), which occurs in approximately 60% of affected individuals, as well as myopia and an increased risk of retinal detachment. Other features may include dural ectasia, spontaneous pneumothorax, and skin striae. Diagnosis is based on the revised Ghent nosology (2010), which places particular emphasis on aortic root dilation/dissection and ectopia lentis as cardinal features, along with FBN1 mutation testing and a systemic score. Management requires lifelong multidisciplinary care. Beta-blockers or angiotensin II receptor blockers (particularly losartan) are used to slow the rate of aortic dilation. Prophylactic aortic root surgery is recommended when the aortic root diameter reaches a critical threshold (typically 50 mm in adults, or earlier based on growth rate and family history). Regular ophthalmologic and orthopedic surveillance is essential. With appropriate medical and surgical management, life expectancy has improved significantly and now approaches that of the general population.
Also known as:
Clinical phenotype terms— 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
FDA & Trial Timeline
10 eventsWashington University School of Medicine — NA
University of Oviedo
Oslo University Hospital — PHASE2
IRCCS Policlinico S. Donato
IRCCS Policlinico S. Donato
Epkin — PHASE1
Necmettin Erbakan University — NA
Novartis Pharmaceuticals — PHASE3
Golden Jubilee National Hospital
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Marfan syndrome.
10 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
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
Financial Resources
2 resourcesTravel Grants
No travel grants are currently matched to Marfan syndrome.
Community
No community posts yet. Be the first to share your experience with Marfan syndrome.
Start the conversation →Latest news about Marfan syndrome
2 articlesCaregiver 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.
Common questions about Marfan syndrome
What is Marfan syndrome?
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by pathogenic variants in the FBN1 gene, which encodes fibrillin-1, a major structural component of extracellular microfibrils. Because connective tissue is found throughout the body, Marfan syndrome is a multisystem disorder that primarily affects the cardiovascular, skeletal, and ocular systems. It was first described by Antoine Marfan in 1896 and is one of the most common inherited connective tissue disorders. Cardiovascular manifestations are the most life-threatening and include progressive aortic root dilation, which
How is Marfan syndrome inherited?
Marfan syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Marfan syndrome?
Yes — 10 recruiting clinical trials are currently listed for Marfan syndrome 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?
14 specialists and care centers treating Marfan syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Marfan syndrome?
2 patient support programs are currently tracked on UniteRare for Marfan syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.