💪 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.