💪 PREVENTION IS BETTER THAN CURE 💪

introduction

Marfan syndrome (MFS) is a genetic disorder of the connective tissue.The degree to which people are affected varies. People with Marfan tend to be tall, and thin, with long arms, legs, fingers and toes. They also typically have flexible joints and scoliosis.Marfan is an autosomal dominant disorder. About 75% of the time the condition is inherited from a parent while 25% of the time it is a new mutation. It involves a mutation to the gene that makes fibrillin which results in abnormal connective tissue.

Clinical manifestations

Some signs are easy to see

Every person’s experience with Marfan syndrome is slightly different. No one has every feature and people have different combinations of features. Some features of Marfan syndrome are easier to see than others. These include:

• ·         Long arms, legs and fingers
• ·         Tall and thin body type
• ·         Curved spine
• ·         Chest sinks in or sticks out
• ·         Flexible joints
• ·         Flat feet
• ·         Crowded teeth
• ·         Stretch marks on the skin that are not related to weight gain or loss

Other signs are harder to detect

Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.