Marfan S Syndrome

Marfan syndrome is an inherited disease that affects connective tissue. The main manifestations of Marfan syndrome are very tall height, abnormally long and thin fingers and toes (arachnodactyly), heart defects and partial displacement of the lenses of the eyes from their normal position.

Marfan syndrome is caused by a mutation in the FBN1 gene, which encodes the fibrillin-1 protein, which plays an important role in the formation of connective tissue. This mutation leads to disruption of the synthesis and structure of fibrillin-1, which, in turn, leads to damage to the connective tissue of the heart, blood vessels, skeleton and other organs.

Diagnosis of Marfan syndrome is based on the identification of characteristic clinical signs and is confirmed by genetic testing. Treatment usually involves regular medical monitoring to prevent complications, as well as surgical correction of heart defects and other abnormalities. With timely diagnosis and treatment, the prognosis for patients with Marfan syndrome can be relatively favorable.

Marfan syndrome is a hereditary connective tissue disease characterized by very high growth, arachnodactyly, heart defects, and partial displacement of the lenses of the eyes. This disease can lead to serious health consequences, including heart failure, eye problems and other complications. However, with proper treatment and monitoring, the quality of life of patients with Marfan syndrome can be significantly improved.

Marfan Syndrome is a hereditary disease associated with connective tissue disorders. It is characterized by tall stature and abnormally long and thin fingers and toes, known as arachnodactylism. It is also one of the genetically determined diseases of hereditary nature, caused by a gene mutation,