Marfan Syndrome

By: Brooke Palmer

Information on Marfan Sndrome

Causes

Caused by a mutation in the gene that determines the protein that is an important part of connective tissue. Born with the disorder, even though it may be diagnosed later in life. This disorder inherited (50% chance). Even two parents that don’t have the disease may have a child with the disorder, because of a defect in the formation of sperm or egg cell (1 in 10,000 chance).

Signs

· Tall, thin build

· Long arms, legs, fingers, and toes and flexible joints

· Spine that curves to one side

· Chest that sinks in or sticks out

· Teeth that are too crowded

· Flat feet

· Stretch marks

Symptoms

· Severe pain from the front or back of the chest

· Pain that travel up or down the body

Diagnosis

There is no specific laboratory test (blood test or skin biopsy) to diagnose. Geneticist realized on observation such as:

· Information about family members that have the disorder or had early heart related death

· Physical exam, including skeletal frame of arm/leg to trunk size

· Eye exam

· Heart tests (test that uses ultrasound waves for the heart and aorta)

Management

There is no cure for Marfan syndrome. A specialist ill develop an individual treatment program. The approach depends on which system has been affected.

· Skeletal-annual evaluation to detect any change in the spine or sternum. May cause disfiguring, and may prevent the heart and lungs from functioning properly

· Eyes-regular eye examinations for identifying and correcting any vision problem related to the disorder

· Heart and blood vessels- regular checkups and echocardiograms to help evaluate the size of the aorta and the way the heart is functioning

Prognosis

Can cause death if not properly treated regularly.

Epidemiology

Can be found among people of all races and ethic backgrounds.

http://www.medicinenet.com/marfan_syndrome/article.htm#marfan_syndrome_facts