Marfan syndrome - Symptoms 

Marfan syndrome can affect many parts of the body. The main parts of the body that are affected by Marfan syndrome are the:

• skeleton
• eyes
• cardiovascular system (the heart and blood vessels)

The symptoms of Marfan syndrome can vary in severity between people. Some people with the condition may only experience a few mild symptoms, while others may experience more severe symptoms.

Approximately 1 in 10 people with Marfan syndrome are severely affected. The symptoms tend to worsen as you get older.

Skeleton

People with Marfan syndrome tend to have several physical characteristics, including:

• being tall
• being slim
• having long, thin arms and legs
• having loose and very flexible joints

If your child is particularly slim or tall for their age, it does not mean that they have Marfan syndrome. Marfan syndrome is a relatively rare condition, and your child will usually have a variety of other symptoms if they have the condition.

Other physical signs of Marfan syndrome can include:

• small bottom jaw
• high, arched palate (roof of the mouth)
• deep-set eyes
• flat feet
• breastbone (sternum) that either protrudes outward or caves inward
• crowded teeth

Scoliosis

Marfan syndrome can cause the spine to become curved. This is known as scoliosis. If the spine is curved, it can cause chronic (long-term) backache. In severe cases, the curvature of the spine may make it difficult to breathe, or the spine may press against your heart and lungs.

Spondylolisthesis

Spondylolisthesis occurs when one vertebra (small bone in your spine) slips forward over another vertebra. It usually occurs at the bottom end of your spine and can cause back pain and stiffness. Although anyone can develop spondylolisthesis, it is most common in people with Marfan syndrome.

Dural ectasia

The dura is the membrane (thin layer of cells) that lines your brain and spinal cord. Dura ectasia is a condition that occurs when the dura becomes weakened and expands outwards.

People with Marfan syndrome are at particular risk of developing dura ectasia. As the membrane expands, it can press on the vertebrae in your lower back. This can cause:

• backache
• headache
• numbness or pain in your legs

Eyes

Many people with Marfan syndrome will have some type of vision problem. For example, over half of people with the syndrome have lens dislocation. Symptoms of Marfan syndrome that can affect your vision include:

• short sightedness (myopia)
• lens dislocation, when the lens (the transparent structure at the front of your eye) falls into an abnormal position
• glaucoma, a condition that is caused by increased pressure in the eyeball and can cause permanent loss of vision if left untreated
• cataracts, when the lens in the eye becomes clouded
• detachment or tears in the retina (the retina is the light-sensitive nerve tissue that lines the back of the eye)

If you have vision problems, it could affect your ability to drive. It is your legal obligation to inform the Driver and Vehicle Licensing Agency (DVLA) about a medical condition that could affect your driving ability.

The Directgov website explains how to tell the DVLA about a medical condition.

Cardiovascular system

Marfan syndrome can affect your cardiovascular system, which is made up of your heart and blood vessels. Heart-related symptoms can be very serious and can affect your:

• aorta
• valves

These are explained in more detail below.

Aorta

The aorta is the main artery (blood vessel) in your body. It runs from your heart down the centre of your chest and through your abdomen (tummy).

The walls of the aorta are weak in people who have Marfan syndrome. This can sometimes cause the aorta to become enlarged and bulge out. This is known as an aortic aneurysm.

In severe cases, the aorta can rupture (split) and cause potentially fatal internal bleeding. See the Health A-Z topic about Aneurysm for more information.

Valves

Your heart has four chambers that pump blood to and from the rest of the body. To control the flow of blood through your heart’s chambers, your heart has four valves:

• mitral valve
• aortic valve
• tricuspid valve
• pulmonary valve

These valves act as one-way gates, allowing blood to flow through in the correct direction. In people with Marfan syndrome, the mitral or tricupsid valves can prolapse, which means that they do not close properly. This can lead to regurgitation, where blood leaks back through the valve.

Monitoring

If your GP thinks that you may have Marfan syndrome, they will refer you to a specialist in Marfan syndrome for testing. Your heart and blood vessels will be examined for the symptoms of the syndrome. See Marfan syndrome - diagnosis for more details.

Stretch marks

Stretch marks are pink, red or white streaks in the skin. They can appear when you gain or lose weight quickly, when you have a growth spurt during childhood, or during pregnancy.

People with Marfan syndrome often develop stretch marks because the tissue in their skin is weakened, and the skin is not as resilient (elastic) as it should be. If you have Marfan syndrome, stretch marks are most likely to appear over your:

• shoulders
• hips
• lower back