An inherited condition in which a protein is deficient, resulting in tall stature and defects of the eyes, heart, and arteries
- Present at birth
- Due to an abnormal gene often inherited from one parent
- Gender and lifestyle are not significant factors
In Marfan’s syndrome, a protein that is a component of the connective tissue between the structures and organs of the body is deficient. The condition most often affects the bones, eyes, heart, and main arteries of the body. Marfan’s syndrome is due to an abnormal gene that is inherited in an autosomal dominant manner (see Gene disorders). However, not everyone with this condition is affected to the same extent. In the UK, about 1 in 5,000 people has Marfan’s syndrome.
What are the symptoms?
The symptoms of Marfan’s syndrome usually appear at about the age of 10 but may be seen earlier. They may include:
Very tall stature.
Long, thin limbs, fingers, and toes.
Weak joints and ligaments.
Inward curving of the chest.
Curvature of the spine.
The risk of complications depends on which tissues are affected and the severity of abnormalities. Most people with Marfan’s syndrome are shortsighted (see Myopia), and some have other eye defects, such as an incorrectly placed lens. Marfan’s syndrome can lead to heart valve disorders. The aorta, the main artery of the body, may also become weakened and may swell and rupture (see Aortic aneurysm), a condition that is life-threatening.
a condition that is life-threatening.
What might be done?
Marfan’s syndrome is usually diagnosed when the visible features of the condition begin to appear. There is no cure, but an affected child is monitored carefully, and complications are treated as they arise. Many affected children need glasses and should have an eye test once a year. Some people with the condition are given beta-blockers to help to prevent weakening of the aorta. In rare cases, affected girls under the age of 10 are given hormone treatment to promote the early onset of puberty and to reduce their growth, preventing excessive height in adulthood. Defects in the heart valves or aorta can be corrected by surgery. Affected individuals may wish to join a support group for advice.
What is the prognosis?
In the past, people with the condition were restricted in their activities and often died before the age of 50. Today, many affected people can lead active lives, although some may be advised to avoid certain sports, such as contact sports, and overall life expectancy may be shortened.
From the 2010 revision of the Complete Home Medical Guide © Dorling Kindersley Limited.
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