Marfan Syndrome
Michael Phelps has Marfan Syndrome !!!
What other names are there for this disorder (Any common names?)
What causes the disorder?
How is it inherited? (Is it sex-linked, recessive, and/or dominant?)
What are the symptoms?
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?
Can anyone be a candidate for the disorder?
What kind of medical assistance will the affected child need? Will further assistance be needed, as the child grows older?
Are there any treatments or cures?
Could this disorder have been prevented?
What is the current status of research on this disorder? Is there a cure coming soon?
If they have enough money.
What gene or chromosome is affected by this disorder (X,Y, #21)
Are there prenatal tests for this disorder?
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?
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.