MySpecialChild - Special Needs Children

Marfan Syndrome

MARFAN SYNDROME

What is MARFAN Syndrome?

Marfan Syndrome is a heritable condition that affects the connective tissue. This tissue holds the body together and provides a framework for growth and development. Marfan Sydrome stops these connective tissues from acting as they should and can affect the lungs, skin, eyes, heart and blood vessels, skeleton and nervous system.

The Marfan Syndrome is caused by a defect in the gene that determines the structure of a protein called fibrillin, which is an important part of connective tissue. People are born with this disorder although a diagnosis is often not made until later in life. The gene that is affected is the same for all people with the Marfan Syndrome and people in the same family will often have their own specific mutation, but not everyone in a family wil have identical medical problems or be equally affected.

Each child of a person with the Marfan Syndrome has a 50 percent chance of inheriting the disorder. 25 percent of cases will be down to a spntaneous mutation at the time of conception.

Characteristics of Marfan Syndrome

Skeleton - People with the Marfan syndrome are typically, but not always, very tall or taller than unaffected people in their family, slender and loose jointed.
Skin - Many people with The Marfan syndrome develop stretch marks on their skin, even without any significant weight change or pregnancy
Lungs - Marfan Syndrome can cause the tiny air sacs within the lungs to be less elastic but in general people with Marfan do not experience noticeable problems with their lungs.
Eyes - people with the Marfan syndrome may experience dislocation of one or both lenses of the eye.
Heart and blood vessels - Most people with the Marfan syndrome have problems associated with the heart and blood vessels.
Nervous system - In Marfan the Dura (The fluid surrounding the brain and spinal cord) often weakens which weighs on the vertebrae in the lower spine causing discomfort or possible pain, numbness or weakness of the legs.

Although Marfan Syndrome is a lifelong disorder and it is often progressive, the outlook in recent years, due to early diagnosis and advances in medical technology is good. Early diagnosis and management of Marfan Syndrome is important and this with the advances being made help to provide people with the Marfan Syndrome with a good quality of life.

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