A Rare Inherited Disorder
Marfan syndrome is a fairly rare genetic disorder that effects the body’s connective tissues, whose purpose is to maintain the structure of the body and support internal organs. Although a rare condition itself, affecting about 1 in 3,000 people, it’s one of the most common connective tissue disorders. Marfan syndrome is hereditary, with about 75% of cases being passed on from one parent and a child has a 50% chance of receiving it. Some people however, do not inherit it: spontaneous mutation is when the individual’s cells mutate on their own.
What Is Marfan Syndrome?
Connective tissue is found through-out the body and is made up of a range of fibres which gives the tissues its elasticity. A protein called fibrillin is part of these elastic fibres, but Marfan syndrome creates an abnormal or deficient version which makes the fibres unusually stretchy and weak. It can make some bones grow abnormally long and be more brittle than usual, while stretch marks are and joint pain are also common occurrences. Read more