Grayce P. Storey
Marfan syndrome is an inherited disease that affects the connective tissue of the bones and ligaments and of the eye, heart, blood vessels and lungs. This disorder can affect more than one person in a family.
An individual when affected by Marfan syndrome is often tall, slender and very flexible. The spinal curve can become severe without treatment. The breast bone protrudes due to an over growth of ribs. The face is long and slender. The teeth are crowded. Infants tend to look older than they are. The individual will also suffer nearsightedness and the lens will be off center. In the heart, the blood vessels are affected in nearly all persons. These affected vessels cause an abnormal motion when the left ventricle contracts sometimes leading to heart murmurs. The aorta can become enlarged therefore requiring more frequent doctor visits. In the lungs there is less elasticity than normal.
Marfan syndrome is caused by a mutant gene. The Marfan gene may be inherited from a parent affected by the disorder or from an unaffected parent who had a mutation in the sperm or egg cell.
Some researchers tend to believe that the cause for Marfan syndrome is due to a change in one of the proteins that provide strength to connective tissue.
It is estimated that one out of 10,000 persons in the United States is affected. Marfan syndrome is no respector of race, sex, or ethnic group.
Presently, there is no cure for Marfan syndrome. A true cure includes altering the gene structure of that gene responsible for causing the condition.
This condition does not prevent the affected person from holding down a compatible job, however, vigorous physically exerting activities should be avoided.
Pedigree of family with Marfan Syndrome
(figure available in print form)