Marfan syndrome

Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. The disease also affects other bodily structures—including the skeleton, lungs, eyes, heart and blood vessels—in less obvious ways. It is named for Antoine Marfan, the French pediatrician who first described it in 1896.

Genetics

Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin, which is essential for the formation of elastic fibres found in connective tissue. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mice, and it is hoped that the study of mouse fibrillin synthesis and secretion, and connective tissue formation, will further our understanding of Marfan syndrome in humans.

Related Topics:
Autosomal dominant - Gene - Chromosome - Codes for - Fibrillin - Elastic - Fibre - Penetrance - Mice

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Although genetic testing is available, a diagnosis is usually made solely on clinical findings. Most individuals with Marfan syndrome have another affected family member, but about 30% of cases are due to new (de novo) mutations and they are the first in their family. Genetic counseling is available for families who may be at risk for Marfan syndrome.

Related Topics:
Genetic testing - Genetic counseling

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Estimates indicate that perhaps 1 in 10,000 people has Marfan syndrome. There is no cure, but effective treatment allows many people with the disorder to live normally. It affects all races and sexes equally.

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