Marfan Syndrome - Arachnodactyly

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Last updated 5 years ago

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Marfan Syndrome - Arachnodactyly

The gene that causes this disorder is the FBN1 gene, which provides instructions for making a new protein caled fibrillin-1.

Doctors identify this disorder by administering an echocardiogram(a test that uses sound waves to see a real-time image of the heart). They may also test the eyes with a slit lamp exam(checks for lens dislocation or a detached retina). Along with these, they most likely will conduct a genetic test.

The trait is inherited by an autosomal dominant pattern meaning that every child that is born to a parent who has Marfan Syndrome has a 50% chance of having it as well. Out of all cases, 75% occur in families where parents pass it on to their kids, and 1/4 of cases have no family history of the disorder.

Marfan's syndrome is a genetic disorder of connective tissues which provide strength and flexability to bones, ligaments, muscles, blood vessels, and heart valves. It affects a great deal of tissues in the body or the body as a whole. It's only common for 1 in every 5,000 people worldwide.

What is it?

How do you get it?

Some symptoms of the disease include long arms, legs, or fingers, a tall/thin body appearence, a curved spine, flexible joints, flat feet, crowded teeth, stretch marks that are unrelated to weight gain or loss, and the chest sticking in or out.

Due to the tissues weakening it may cause breathing disorders, sleep apnea, hernia's, and palpitations(irregular or fast heart beat). Marfan syndrome is incurable, but can be helped by surgery, medications, or simply follow-up appointments, routine cardiovascular, eye, and orthopedic exams. A medication often used is beta-blocker, which prevents the aorta from growing, but some people can't use this because they have asthma or the side effects could be too extreme for the patient.

Medical issues and treatments

How is it identified?


Marfan Syndrome(Arachnodactyly)



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