Marfan Syndrome

Michael Phelps has Marfan Syndrome !!!

What other names are there for this disorder (Any common names?)

The only other way to call the Marfan Syndrome is MFS

What causes the disorder?

Marfan syndrome is caused by a defect, or mutation. A person with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life.

How is it inherited? (Is it sex-linked, recessive, and/or dominant?)

It is a dominant trait.

What are the symptoms?

Skeleton:Very tall,Slender, Loose-jointed,Long bones (longer than usual).

Eyes:lenses of the eye are dislocated.

Heart & Blood vessels:Te vessels might stretch and become weakened also some valves might leak.

Nervous System:The Brain and spinal cord are surrounded by a membrane called the dura.

What population is affected?

The population affected is 1 out of 5

Can anyone be a candidate for the disorder?

Everyone is a candidate for MFS

What kind of medical assistance will the affected child need? Will further assistance be needed, as the child grows older?

The child will need a lot of medical assistance and as he grows older he is going to have to do some exams and maybe even surgery.

Are there any treatments or cures?

Yes,Eye problems are generally treated with eyeglasses and Skeletal problems such as scoliosis and pectus excavatum may require surgery.

Could this disorder have been prevented?

Yes there is a way of preventing Marfan syndrome

What is the current status of research on this disorder? Is there a cure coming soon?

They are still trying to raise money for the research.

If they have enough money.

What gene or chromosome is affected by this disorder (X,Y, #21)

Chromosome 15 is affected

Are there prenatal tests for this disorder?

There is a prenatal test it uses Chorionic Villus sampling (CVS) wich is taking a small sample of placenta from the womb

Can this individual have children in the future? Will those children be affected?

They can ave children but Marfan syndrome is inherited in families in an autosomal dominant manner. Approximately seventy-five percent of individuals who have Marfan syndrome have a parent who also has the condition (inherited). Approximately 25 percent of individuals who have Marfan syndrome, have the condition as a result of a new (de novo) mutation. When a parent has Marfan syndrome, each of his or her children has a 50 percent chance (1 chance in 2) to inherit the FBN1 gene. While Marfan syndrome is not always inherited, it is always heritable.

What is the long-term outlook for the child?

Heart and blood vessel problems pose the largest threat to a person with Marfan syndrome, which emphasizes the importance of regular evaluation by your child's health care provider.

With advances in the diagnosis, evaluation, and management of the organ abnormalities associated with Marfan syndrome, the life expectancy for a person with the disease has nearly doubled in the past 25 years. Today, individuals with Marfan syndrome can expect to live about 70 years or more.

For women with Marfan syndrome, pregnancy and childbirth pose significant risks. These women should be evaluated with echocardiography prior to becoming pregnant.