Marfan syndrome

Marfan syndrome is a genetic (inherited) condition that affects the body's connective tissues. Connective tissues provide support and structure to other tissue and organs.

The symptoms of Marfan syndrome vary from person to person, as the condition can affect the connective tissues in different areas of the body. For example, it can affect:

• blood vessels, causing damage to the heart
• skeleton, causing long, thin limbs
• eyes, causing the lens (the transparent structure at the front of the eye) to fall into an abnormal position (lens dislocation)

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

Marfan syndrome is hereditary, which means it is passed to a child from their parents. There is a one in two chance that someone with Marfan syndrome will have a child with the condition.

How common is Marfan syndrome?

Marfan syndrome is relatively rare. Approximately 1 in 5,000 people have the syndrome. Men and women are equally affected. Although rare, Marfan syndrome is the most common connective tissue disorder.

In around three-quarters of cases, Marfan syndrome is inherited from one of the parents. However, in a quarter of cases, neither parent has the condition.

Outlook

There is no definitive test to diagnose Marfan syndrome. Instead, the condiotion is diagnosed by identifying a number of different symptoms. As the symptoms may not develop during childhood, a definitive diagnosis will sometimes not be made until the child is a teenager.

Marfan syndrome is a potentially serious condition because it can affect the heart and blood vessels. Although there is currently no cure for Marfan syndrome, treatments are available that can help manage the symptoms.

With regular assessments to screen for complications and prompt treatment when complications occur, the life expectancy of someone with Marfan syndrome should not be greatly affected.

Glossary

Blood vessels

Blood vessels are the tubes in which blood travels to and from parts of the body. The three main types of blood vessels are veins, arteries and capillaries

Connective tissue

Connective tissues help to provide support and structure to other tissue and organs

Lens

The transparent structure at the front of your eye, just behind your pupil (the black circle in the centre).