Marfan syndrome is a genetic, heritable connective tissue disorder (HCTD) caused by genetic changes in the FBN1 gene, which produces fibrillin, an essential protein of connective tissues.¹ Connective tissues offer support and structure to many organs of the body.^2,3 In Marfan syndrome, the weakening of connective tissue affects multiple parts of the body such as the eyes, heart, muscles and skeletal, lung, skin and central nervous system.⁴ Some common symptoms include tall and long arms, aortic complications, short-sightedness, and distinctive facial and bone features. Marfan syndrome affects both males and females equally.

Synonyms: MFS.⁵

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:558 Marfan syndrome

ICD-11: LD28.01 Marfan syndrome

Symptoms and severity of Marfan syndrome can vary widely between individuals.¹

Some common symptoms include:^2-8

• long, slender arms and legs due to overgrowth of long bones
• eye problems such as ectopia lentis (dislocation of the ocular lens) and short-sightedness
• heart problems such as aortic root dilation, aorta enlargement (aneurysm), tear of the aorta wall (dissection), mitral valve prolapse (valve between left heart chambers bulge upwards into left atrium which can cause blood leaking backward); all of which can lead to life-threatening complications
• skeleton problems such as loose and flexible joints, sunken or protruding chest walls, flat feet, scoliosis, thin long fingers and toes
• dural ectasia (enlargement of the outer membrane around the brain and spinal cord), which can cause chronic back pain and headaches
• migraines
• facial features such as long and narrow face, sunken eyes, down-slanting eyes, flat cheekbone, receding chin
• lung problems such as pneumothorax (air leaks into the space between the lung and chest wall, which can cause lung collapse)

Please speak to your medical team to learn more about the symptoms and complications of Marfan syndrome.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

Marfan syndrome is a genetic condition. It is caused by disease-causing genetic changes (variants) in the FBN1 gene on chromosome 15.¹ Genetic variants in FBN1 gene leads to weakening of the connective tissue.⁷

Everyone has two copies of each gene, one from their mother and one from their father. Marfan syndrome is an autosomal dominant condition, which means that having genetic variants in just one of the FBN1 gene copies can result in Marfan syndrome.¹

The genetic variant can be inherited, which means it can be passed on to the next generation. If a parent has the autosomal dominant gene variant, there is 50% chance that they will pass that genetic variant to each of their children.^5,8 More information on autosomal dominant inheritance pattern can be found at Centre for Genetics Education: Autosomal dominant inheritance. In some cases, the genetic variant in FBN1 gene occurs randomly (de novo) and is not passed down from their parents, meaning a person may be the first in their family to have Marfan syndrome.¹

If you would like to learn more about the inheritance and impact of this condition, please ask your doctor for a referral to a genetic counsellor. Genetic counsellors are qualified allied health professionals who can provide information and support regarding genetic conditions and testing. More information about genetic counselling can be found at:

• Information on Genetic Services
• The National and State Services pages underneath the ‘Genetic Counselling’ sections listed

The Revised Ghent Nosology for the Marfan syndrome includes clinical diagnostic criteria for Marfan syndrome developed by international experts, published in 2010.

Diagnosis of Marfan syndrome is based on:^6,7,9,10

• family history
• physical examination
• heart examination and imaging to assess aortic root and for other heart abnormalities
• ophthalmology (eye) examination
• X-rays to assess the skeletal system
• genetic testing

As part of the diagnostic process, doctors may do a differential diagnosis, where they rule out other conditions that have similar symptoms, such as Loeys-Dietz syndrome, Ehlers Danlos syndrome, Shprintzen-Goldberg syndrome, congenital contractural arachnodactyly, familial mitral valve prolapse syndrome, homocystinuria, Klinefelter syndrome, and Sticker syndrome.^5,7

Please speak to your medical team to learn more about the available diagnostic pathways for Marfan syndrome.

There is currently no curative treatment for Marfan syndrome. Treatment is targeted at managing symptoms (symptomatic management) and involves a multidisciplinary care team. This may include:^1,2,8-10

• medications to manage blood pressure, or surgery for aortic dilation or other heart problems may be considered
• eye care such as vision correction, or surgery to remove lens if necessary
• bracing, spinal fusion or surgical correction to manage scoliosis and skeletal abnormalities
• management of lung function
• modification of physical activity such as limiting certain high-intensity, and contact activities

It is recommended that individuals with Marfan syndrome be monitored for their heart (aorta), eyes, skeletal systems, and managed accordingly.⁷

The risk of aortic complications may be higher with pregnancy and childbirth. Cardiac assessment and close monitoring pre-pregnancy and throughout pregnancy is recommended.^3,8

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Healthcare professionals involved in the care of people with Marfan syndrome may include general practitioners (GP), paediatricians, cardiologists, cardiothoracic surgeons, geneticists, genetic counsellors, rheumatologists, ophthalmologists, pulmonologists, radiologists, and allied health therapists such as physiotherapists, occupational therapists, and others.⁴ The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

For many rare diseases, palliative care services may be relevant and useful. Palliative care services are available for people (adults, children and their families) living with a life-limiting illness. Palliative care services provide assistance, support, resources and tools to help people manage their illness and the symptoms, ease pain, and improve comfort and quality of life. Palliative care is not only for end-of-life care. It can also help at any stage of illness from diagnosis onwards, and will look different for different people. For more information about palliative care and how it can help you, please visit:

• Australian Institute of Health and Welfare: Palliative care Overview
• Australian Government Department of Health, Disability and Ageing: Palliative care
• Palliative Care Australia

Guidelines for the Diagnosis and Management of Marfan Syndrome was developed by the Cardiac Society of Australia and New Zealand (CSANZ) and updated in 2011.

Update on the diagnosis and management of inherited aortopathies, including Marfan syndrome was developed by CSANZ; published in 2016.

The following guidance is available from international experts outside Australia; however, there may be information that is not relevant or applicable to the Australian context, and may not be up to date:

• Optimizing the Care for Children with Marfan Syndrome and Aortic Disease: Insights from a Joint Statement – developed by the European Reference Network of Vascular Diseases and the Association for European Paediatric and Congenital Cardiology, published in 2024.
• Management of Marfan syndrome and related disorders – developed by medical experts from United States of America, reviewed in 2025.
• 2024 ESC Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) Endorsed by the European Association for Cardio-Thoracic Surgery (EACTS), the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN), and the European Society of Vascular Medicine (ESVM), published in 2024.
• The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact and Management – developed by a multidisciplinary Marfan syndrome team at the University of Oxford, published in 2021.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

It may be important to consider the following when managing individuals living with Marfan syndrome at emergency departments/services:

• Individuals may be at risk of aortic dissection, which can be life-threatening.^10,11

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Australian Organisations:
Connective Tissue Disorders Network Australia (CTDNA)
Website: https://ctdna.org.au/
CTDNA is the collaborative effort of people both living with, and/or caring for those with HCTD. CTDNA seeks to establish a national network of lived experience advocates, healthcare professionals and researchers with an interest in HCTD – to better the care and management of Australians impacted by HCTD.

Marfan Association Queensland
Website: https://www.marfanqld.org.au/
The Marfan Association Queensland (MAQ) is a volunteer run support group for people and families affected by Marfan syndrome and related conditions.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

Marfan syndrome varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information on Marfan syndrome can be found at:

• healthdirect: Marfan syndrome
• Better Health Channel: Marfan syndrome
• National Organization for Rare Disorders (NORD): Marfan Syndrome

StatPearls: Marfan Syndrome

Online Mendelian Inheritance in Man, OMIM^®:#154700 Marfan syndrome; MFS

Orphanet: Marfan syndrome

Human Phenotype Ontology (HPO): Marfan syndrome

This page has been co-developed by Rare Voices Australia (RVA)’s RARE Portal team in consultation with Connective Tissue Disorders Network Australia (CTDNA), including members from their Scientific and Medical Advisory Committee and Lived Experience Advisory Panel, and Marfan Association Queensland.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.