Marfan syndrome is connective tissue disorder. It is caused by a mutation of FBN1 gene that is responsible for encoding Fibrillin-1 protein. The mutation causes the drop of the amount of Fibrillin-1 which consequently affects the connective tissue. Connective tissue loses its strength and support which leads to various defects in different parts of the body. Cardiovascular, skeletal and ocular systems are most often affected. However, further symptoms include tall and slender build, disproportionately long arms, legs, fingers and toes, a breastbone that protrudes outward or dips inward, a high, arched palate and crowded teeth, heart murmurs, extreme nearsightedness, an abnormally curved spine and flat feet (Mayo Clinic, n.d.). Beside these, patients may also experience symptoms like spontaneous pneumothorax, skin abnormalities and hernias. Therapy for Marfan syndrome includes combined meditational and surgical treatments coupled with ocular interventions. .
Key Words: Marfan Syndrome, Symptoms .
Marfan Syndrome.
''Marfan syndrome is an inherited disorder that affects connective tissue - the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.'' (Mayo Clinic, n.d.). Marfan syndrome is caused by the FBN1 gene mutations. According to National Organization for Rare Disorders (n.d.), in more than 95 per cent of the cases, this mutation is located on the long arm (q) of chromosome 15 (15q21.1).Marfan syndrome equally affects males and females with no ethnic predisposition. The incidence is approximately 1 in 5,000 people worldwide in general population (National Organization for Rare Disorders, n.d.). New gene mutations occur in 25-30 percent of the cases. The mutated gene is passed on in an autosomal-dominant pattern. FBN1gene is responsible for the creation of Fibrillin-1. Fibrillin-1 is a protein that chains itself to other Fibrillin-1 proteins in order to form threadlike filaments.
