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In around 75% of cases, Marfan syndrome is inherited from 1 parent. The syndrome is autosomal dominant, So a child can inherit it even if only 1 parent has the syndrome. So there's a 50% chance that the child of a parent with Marfan syndrome will inherit the syndrome.

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Marfan syndrome is a disorder of the body's connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues.
Children usually inherit the disorder from one of their parents.

Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms.

Typical characteristics of Marfan syndrome include:

being tall

abnormally long and slender limbs, fingers and toes (arachnodactyly)

heart defects

lens dislocation - where the lens of the eye falls into an abnormal position

Find out more about the symptoms of Marfan syndrome

What causes Marfan syndrome?

Marfan syndrome is hereditary, which means it can be passed to a child from a parent who's affected.

In around three-quarters (75%) of cases, Marfan syndrome is inherited from 1 parent.

The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome.

There's therefore a 1 in 2 (50%) chance that the child of a parent with Marfan syndrome will inherit the syndrome.

The gene defect leads to abnormal production of a protein called fibrillin, resulting in parts of the body being able to stretch abnormally when placed under any kind of stress.

The defective fibrillin gene also causes some bones to grow longer than they should.

This means a person with Marfan syndrome may be tall because their arms and legs grow longer than normal.

In the remaining quarter (25%) of cases, neither parent has the syndrome.

In these cases, the fibrillin gene changes (mutates) for the first time in the parent's egg or sperm.

The mutated gene can be passed on to the child, who will then go on to develop the syndrome.
Find out more about genetic inheritance

Diagnosing Marfan syndrome

Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person.

As the symptoms of Marfan syndrome do not always develop during childhood, it may not be identified until the teenage years.

In 99% of cases, a genetic test can be used to confirm a diagnosis of Marfan syndrome.

But it's an expensive process, as the gene can mutate in more than 3,000 different ways.

In most cases, a diagnosis of Marfan syndrome is based on a thorough physical examination and a detailed assessment of a person's medical and family history.
Find out more about how Marfan syndrome is diagnosed

Treating Marfan syndrome

There's no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.

As Marfan syndrome affects several different parts of the body, you'll be treated by a team of different healthcare professionals.

You'll be closely monitored and any complications will be treated if they occur.

A serious problem caused by Marfan syndrome can occur if the heart and the aorta, the body's main artery, are significantly affected. This can lead to a lower life expectancy.
Find out more about the possible treatments for Marfan syndrome

Information about you

If you or your child has Marfan syndrome, your clinical team will pass information about you or your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

This helps scientists look for better ways to prevent and treat this condition.

You can opt out of the register at any time.
Find out more about the register

How common is Marfan syndrome?

Although Marfan syndrome is rare, affecting about 1 in 5,000 people in the UK, it's one of the most common connective tissue disorders.

Men and women are affected equally.

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Marfan syndrome is a disorder of the body's connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues. Children usually inherit the disorder from one of their parents.

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-Braces help keep the curves in the spine from getting worse.
-Glasses or contacts help to correct vision problems.
-Lifestyle changes
-Physical or occupational therapy to help you strengthen muscles and to manage orthopedic problems or complications.

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National Institute of Arthritis and Musculoskeletal and Skin Diseases

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Treatment of Marfan Syndrome

There is no cure for Marfan syndrome; instead, doctors focus treatment to relieve symptoms and prevent additional problems or complications. Treatment depends on the area of the body affected by the syndrome and may include medications, other treatments, and surgery.

Doctors may prescribe the following medications:

Betablocker or angiotensin receptor blockers to help manage problems with your heart. These medications can help your heart beat with less force and more slowly.

Anti-inflammatory and pain medications.

Other treatments may include:

Braces to help keep curves in the spine from getting worse.

Glasses or contacts to help correct vision problems.

Lifestyle changes that include:

Lowering emotional stress, when possible, that may raise your blood pressure or heart rate.

Avoiding high-exertion or contact sports and physical activities. Encouraging mild to moderate physical activities, such as swimming, walking, and bicycling, which allow you to set your own pace. Talk to your doctor before beginning any exercise program.

Physical or occupational therapy to help you strengthen muscles and manage orthopaedic problems and complications.

Some people with Marfan syndrome may need surgery to correct the problems or complications that can happen. Surgeries may include:

Orthopaedic surgery to correct more serious problems with the skeleton and sternum.

Eye surgery to treat some complications, including a retinal detachment and cataracts.

Cardiovascular surgery to correct problems with the heart, blood vessels, or lungs.

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There is no cure for Marfan syndrome; instead, doctors focus treatment to relieve symptoms and prevent additional problems or complications. Treatment depends on the area of the body affected by the syndrome and may include medications, other treatments, and surgery. Doctors may prescribe the following medications: Betablocker or angiotensin receptor blockers to help manage problems with your heart.

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Research being done on Marfan's syndrome 

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Research being done on Marfan's syndrome 

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They push the government to fund the research that will improve and save lives. They share their knowledge about Marfan syndrome and related conditions through conferences, symposia, and partnerships with governmental agencies and other health organizations.

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2020 Studies

In 2020, we received 44 proposals (nearly double from the previous year) and awarded seven research grants to scientists ranging from seasoned investigators to young researchers. Four of the new grants were awarded to first time applicants, helping to expand our circle of researchers. We provided a grant to an international researcher as well. Through our grant program and other commitments, we funded $1.4 million dollars in research this year. As a result of our efforts in 2020, grants will help researchers investigate studies in the areas of:

Cardiovascular mechanisms for Marfan and related conditions

Neonatal Marfan syndrome

Structural function in VEDS

Orthopedics in Marfan

In addition to the newly awarded research grants, the Foundation provided another $725,000 in 2020 research support for the Aortic Valve Sparing Operative Outcomes Study and the Marfan and Related Conditions International Patient Registry with Backpack Health, as well as funding for an additional 20 researchers who were awarded multi-year grants in the past two years.
To read more about the research grants we most recently awarded, click here. To view all funded research grant recipients since 2014, click here.

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As a result of our long-time commitment, we have turned the tide for Marfan research. We work with world-class scientists who are equally dedicated to our goal of creating a brighter future for people living with Marfan syndrome and related conditions. And, through our research grant program, we have grown the number of researchers studying [...]

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1 in 5,000 people

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Centers for Disease Control and Prevention

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Learn about Marfan syndrome, a genetic condition that affects connective tissue. Marfan syndrome can damage the blood vessels, heart, and other body parts.

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The Marfan Foundation is a voluntary, non-profit organization that works to create better futures for everyone affected by Marfan syndrome and any related disorders.

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NORD (National Organization for Rare Disorders)

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Description

The Marfan Foundation is a voluntary, non-profit organization dedicated to the support and education of people affected by Marfan syndrome and related connective tissue disorders. Families and individuals affected by Marfan syndrome, an inherited disorder of the connective tissue that may affect the skeleton, lungs, eyes, heart, blood vessels, and other areas of the body established the foundation in 1981. The Marfan Foundation has a three-fold purpose: to support and promote research; to disseminate accurate and timely information about this condition to affected individuals, family members, and physicians; and to provide means for affected individuals and relatives to share experiences, support one another, and improve their medical care. To help meet these goals, the foundation sponsors research grants to investigators studying any or all disciplines involved in Marfan syndrome, and conducts annual conferences. It has a network of chapters, support groups, and contacts across the country and provides a variety of educational and support materials for affected individuals, family members, healthcare professionals, teachers, and other professionals. These materials include a newsletter called "Connective Issues," an annual research supplement, booklets, and a listing of thousands of articles and books on Marfan syndrome. Other informational materials include brochures, fact sheets, videos, resource manual and posters.

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Marfan Foundation - NORD (National Organization for Rare Disorders)

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Description The Marfan Foundation is a voluntary, non-profit organization dedicated to the support and education of people affected by Marfan syndrome and related connective tissue disorders. Families and individuals affected by Marfan syndrome, an inherited disorder of the connective tissue that may affect the skeleton, lungs, eyes, heart, blood vessels, and other areas of the body established the foundation in 1981.

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Picture of the chromosome carrying the gene of the disorder

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Picture of the chromosome carrying the gene of the disorder

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-MASS phenotype
-Contractural arachnodactyly
-MASS syndrome
-OCTD
-Overlap connective tissue disease

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Marfan syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program

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A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Marfan syndrome

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-Tall and slender build.
-Disproportionately long arms, legs and fingers.
-A breastbone that protrudes outward or dips inward.
-A high, arched palate and crowded teeth.
-Heart murmurs.
-Extreme nearsightedness.
-An abnormally curved spine.
-Flat feet.

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Overview

Marfan syndrome is an inherited disorder that affects connective tissue - the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. The damage caused by Marfan syndrome can be mild or severe. If your aorta - the large blood vessel that carries blood from your heart to the rest of your body - is affected, the condition can become life-threatening.

Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta. Regular monitoring to check for damage progression is vital. Many people with Marfan syndrome eventually require preventive surgery to repair the aorta.

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Symptoms

The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many different areas of the body. Some people experience only mild effects, but others develop life-threatening complications.

Marfan syndrome features may include:

Tall and slender build

Disproportionately long arms, legs and fingers

A breastbone that protrudes outward or dips inward

A high, arched palate and crowded teeth

Heart murmurs

Extreme nearsightedness

An abnormally curved spine

Flat feet

When to see a doctor

If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. If your doctor suspects a problem, you'll likely be referred to a specialist for further evaluation.

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Causes

Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength.

Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. Each child of an affected parent has a 50-50 chance of inheriting the defective gene. In about 25% of the people who have Marfan syndrome, the abnormal gene comes from neither parent. In these cases, a new mutation develops spontaneously.

Risk factors

Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.

Complications

Because Marfan syndrome can affect almost any part of your body, it may cause a wide variety of complications.

Cardiovascular complications

The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta - the large artery that arises from the heart and supplies blood to the body.

Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root - where the artery leaves your heart.

Aortic dissection. The wall of the aorta is made up of layers. Dissection occurs when a small tear in the innermost layer of the aorta's wall allows blood to squeeze between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel's structure and can result in a rupture, which may be fatal.

Valve malformations. People who have Marfan syndrome can have weak tissue in their heart valves. This can produce stretching of the valve tissue and abnormal valve function. When heart valves don't work properly, your heart often has to work harder to compensate. This can eventually lead to heart failure.

Eye complications

Eye complications may include:

Lens dislocation. The focusing lens within your eye can move out of place if its supporting structures weaken. The medical term for this problem is ectopia lentis, and it occurs in more than half the people who have Marfan syndrome.

Retinal problems. Marfan syndrome also increases the risk of a detachment or tear in the retina, the light-sensitive tissue that lines the back wall of your eye.

Early-onset glaucoma or cataracts. People who have Marfan syndrome tend to develop these eye problems at a younger age. Glaucoma causes the pressure within the eye to increase, which can damage the optic nerve. Cataracts are cloudy areas in the eye's normally clear lens.

Skeletal complications

Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It can also interfere with the normal development of the ribs, which can cause the breastbone to either protrude or appear sunken into the chest. Foot pain and low back pain are common with Marfan syndrome.

Complications of pregnancy

Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, the heart pumps more blood than usual. This can put extra stress on the aorta, which increases the risk of a deadly dissection or rupture.

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This inherited disorder affects the skeleton and the eyes. It can also harm the large blood vessel that carries blood from the heart to the rest of the body.