Marfan Syndrome by: isha lakhani

Genetic Transmission

About 3 of 4 people with Marfan Syndrome inherit it.

Marfan Syndrome is Autosomal Dominant. So it is a Dominant Disorder. that means you only have to have one upper case letter to get it.

Both men, women, and children of all races can be carriers.

the people with this disorder are long and thin, they also have a longer arm SPAN THAN THEIR HEIGHT

they can also have severe nearsightedness and eye problems

some people have curved spines, flat feet, and there chest sinks in or sticks out

Some Symptoms:

long arms, legs, and fingers

tall thin body type

FLEXIBLE joints

severe nearsightedness

tall thin body type

flat feet

eye problems

Curved spine

dislocated lens

detached retina

Commonality

about 1 in 5000 people have Marfan syndrome, including men and women of all races and ethnic groups

about 3 out of 4 people inherit it

there is a 50% chance that person with Marfan syndrome will pass along the syndrome each time they have a child

Treatment

one symptom is a curved spine, people can get a back brace to help them

most people with Marfan syndrome have severe nearsightedness to help them they have eye glasses or contacts

some people's aorta diameter enlarges quickly or reaches about 2 inches if they have Marfan syndrome. to help them they have AORTIC REPAIR.

Side Effects

some people take beta blockers to make the heart go slower to relive stress on there aortic. one side effect for this is tiredness and nausea.

Cost

beta blockers can cost $10 per month

back braces can cost $40-$1,000 depending on what you want

glasses can cost $100-$400 also depending on what you want

Fun Fact

dental and orthodontic MANAGEMENT is vital in those AFFECTED by Marfan syndrome. teeth OVERCROWDING is common.

Some famous people with Marfan syndrome are:

Michael phelps and

isaiah AUSTIN

Michael lives with Marfan syndrome by being tested once a year at John's Hopkins under the direction of Dr. Peter Roe to sees if the tissues are strong and the aortic ROOT is clear and to see if his heart is in good shape.

used from Michael Phelps book exert

Current Research

Scientists are conducting research on Marfan syndrome to better understand what happens once the genetic defect or mutation occurs and How it changes the way connective tissue develops and functions in the body.

other scientists are evaluating the usefulness of certain medications in preventing or reducing problems with the aorta.

the research helps to pinpoint more effective treatments for Marfan syndrome and the related disorders and to allow better diagnoses for Marfan syndrome.

the research "has helped reduce life-threatening problems from these conditions, identified treatments that have improved the quality of life, and helped people to live a long life with Marfan syndrome and related disorders."

QUOTED FROM THE MARFAN FOUNDATION

The Marfan foundation is located and doing there research in Port Washington, NY but i believe they move there staff and doctors to other hospitals and cities like Boston

Credits:

Created with images by Caroline Davis2010 - "DNA"

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