Marfan Syndrome type II

Marfan Syndrome type II (also known as Marfanoid–hypermobility spectrum disorder) is a genetic disorder that affects the body's connective tissue. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves.

Symptoms

The symptoms of Marfan Syndrome type II can vary greatly in severity, timing of onset, and the organs affected. Symptoms can include tall stature, joint hypermobility, heart defects, and eye abnormalities. Some people with the disorder have only mild symptoms, while others have severe and life-threatening complications.

Causes

Marfan Syndrome type II is caused by mutations in the FBN1 gene. This gene provides instructions for producing a protein called fibrillin-1. Fibrillin-1 is an essential component of microfibrils, which provide strength and flexibility to connective tissue. Mutations in the FBN1 gene disrupt the production or function of fibrillin-1, leading to the signs and symptoms of Marfan Syndrome type II.

Diagnosis

Diagnosis of Marfan Syndrome type II is based on clinical criteria, or the Ghent criteria, which consider the individual's family history, physical symptoms, and the results of a genetic test. A diagnosis can be confirmed with a positive genetic test for mutations in the FBN1 gene.

Treatment

There is currently no cure for Marfan Syndrome type II. Treatment is aimed at managing the symptoms and preventing complications. This can include medications to slow the rate of aortic enlargement and prevent aortic dissection, surgery to repair the aorta, and physical therapy to manage joint pain.

Prognosis

The prognosis for individuals with Marfan Syndrome type II can vary greatly depending on the severity of symptoms. With appropriate management, most people with the disorder have a normal lifespan.

See also

• Marfan Syndrome
• Genetic disorders
• Connective tissue

NIH genetic and rare disease info

• NIH info on Marfan Syndrome type II

Marfan Syndrome type II is a rare disease.