Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system).
Theseverity of the symptoms varieswidely. Some people experience a few mild symptoms, whereas others about 1 in 10experience more severe symptoms.
The symptoms of Marfan syndrome tend to getmore severe as a person gets older.
Someonewith Marfan syndrome may have several distinct physical characteristics. They may be:
If your child is particularly slim or tall for their age, it doesn't necessarily mean they have Marfan syndrome. It's a rare syndrome,and your child will usually have a numberof other symptoms if they have it.
Other physical characteristics of Marfan syndrome can include:
Marfan syndrome can cause the spine to become abnormally curved to the sides. This is known as scoliosis .
Curvature of the spine can cause long-term backache. In severe cases, it can also make breathing difficult as the spine may press against the heart and lungs.
Spondylolisthesis is where one of the bones in your spine (a vertebra) slips forward over another vertebra.
This usually occurs in the lower spine, and can cause back pain and stiffness. Anyone can develop spondylolisthesis, but it more commonly affectspeople with Marfan syndrome.
The dura is the membrane that lines your brain and spinal cord. Dural ectasia is a condition where the dura becomes weakened and expands outwards.
People with Marfan syndrome are at particular risk of developing dural ectasia. As the membrane expands, it can press on the vertebrae in your lower back, which can cause:
Many people with Marfan syndrome have some type of vision problem.
Lens dislocation affects half of all people with the syndrome. This is where the eye's lens,the transparent structure that sits behind the pupil and focuses light,falls into an abnormal position.
Other possible eye-related symptoms of Marfan syndrome include:
Marfan syndrome can affect thecardiovascular system, which is made up of your heart and blood vessels.It's particularly serious ifyour aorta and heart valves are affected.
The aorta is the main artery inthe body. It runs from your heart, down the centre of your chest, and through your abdomen.
In people with Marfan syndrome, the walls of the aorta are weak. This can sometimes cause the aorta to enlarge and balloon, which is known as an aortic aneurysm .
In severe cases, the aorta can split (rupture), causing potentially fatal internal bleeding.
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:
These valves act as one-way gates, allowing blood to flow through in one direction. In some people with Marfan syndrome, the mitral or tricuspid valves don't close properly andblood leaks back through the valve.
If your GP thinks you may have Marfan syndrome, you'll be referred to a specialist for testing. Your heart and blood vessels will be examined for the symptoms of the syndrome.
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 isn't as elastic as it should be.
If you have Marfan syndrome, stretch marks are most likely to appear on your:
Over time, they'llgradually fade to a silvery colour and will be difficult to see.
Find out what Marfan syndrome is, what causes it, plus how it's diagnosed and treated.
Read about the possible symptoms of Marfan syndrome, which can affect the skeleton, eyes, and heart and blood vessels (cardiovascular system).
Find out how Marfan syndrome is diagnosed. In most cases, a diagnosis is based on a thorough physical examination and assessment of a person's medical and family history.