What is Marfan syndrome?

Marfan syndrome (MFS) is a rare multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have overly-flexible joints and scoliosis. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.

The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms of MFS is variable. There is no known cure for MFS. Many of those with the disorder have a normal life expectancy with proper treatment. Management often includes the use of beta blockers such as propranolol or atenolol or, if they are not tolerated, calcium channel blockers or ACE (Angiotensin converting enzyme) inhibitors.

About 1 in 5,000 to 1 in 10,000 people have MFS. It is named after the French pediatrician Antoine Marfan, who first described it in 1896.

Diagnostic criteria of MFS were agreed upon internationally in 1996.

However, Marfan syndrome is often difficult to diagnose in children, as they typically do not show symptoms until reaching pubescence. A diagnosis is based on family history.

Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature. Most individuals with MFS have another affected family member. About 75% of cases are inherited.

More Info: en.m.wikipedia.org

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17 Comments

Joy Holbrook

I had a friend who was a nurse in the same hospital as me. All she ever talked about was getting married and having children. She worked exclusively on the obstetrics ward and spent her occasional slow moments cuddling babies. She had never had a boyfriend, even though she was 36, because she was so tall and thin that men didn’t find her attractive. We all wondered whether her dream would come true. However, she did find a man who loved her utterly and completely. She very quickly became pregnant and spent the next few months doing up a nursery and buying baby things. As you’ve probably realised by now, she died in childbirth. The pushing ruptured her aorta and she suffered a catastrophic bleed. This was almost 50 years ago and nobody, as incredible as it may seem, had ever realised she had Marfans Syndrome.

Joy Holbrook

klmilles, the baby was looked after by Kathy’s mum initially, because Kathy’s husband was totally overwhelmed by grief. He did however raise her with the help of his mother and Kathy’s mother. She grew into a happy, healthy girl who followed her mother and grandmother into nursing.

buhlemann

the image looks more like trisomy 21

klmilles

Joy Holbrook, Thank you for the update. A little bright light from the sadness. I'm sure her mom would be proud and touched to still be remembered by her friend.

Jacqueline Tattam

Joy Holbrook, how very sad Joy 😓

Julie Allen

buhlemann, Yes I agree with you. Don't understand why these people disliked your comment though.

Lori Jedda

Joy Holbrook, Our son had Marfans. He was born in 1977, was diagnosed in 1982. We lived near Stanford University and were fortunate that a few years later they had a Marfan’s unit. Marfan’s was not easy to diagnosed until fairly recently. So sad for your friend.

Lori Jedda

buhlemann, our son had Marfan. The picture is definitely NOT Marfan.

Lori Jedda

Anne Tisdell, Our son had Marfan Syndrome. Every few years the experts say Lincoln had Marfan, then they say he did not. Last one I read said he did not. This is a very good description of Marfan.