A to Z of syndromes

A-Z of syndromes: Marfan syndrome

A genetic disorder affecting the formation of the connective tissue
Marfan_syndrome

Marfan syndrome is a genetic disorder affecting the formation of the connective tissue

Marfan syndrome is a genetic disorder affecting the formation of the connective tissue. The syndrome is named after the French paediatrician Antoine Marfan.

It can be caused by a new genetic mutation, but is more commonly inherited as an autosomal dominant trait, which means only one copy of the affected genes transmitted from a parent is required to cause the disorder. Both sexes are equally affected and it can be found in all races.

As with most syndromes there is a high degree of clinical variability, and the signs and symptoms are associated with organs and tissues that contain high proportions of connective tissue. The most severe problems are cardiovascular malformations, including aortic aneurysms.

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