What is Marfan Syndrome?
Marfan's Syndrome is a genetic disorder that results from a defect in the FBN1 gene. The FBN1 gene, otherwise known as Fibrillin, is credited for creating the elastic fibers that provide strong connective tissues. The resulting factors of the gene defect can be seen in the blood vessels, eyes, ligaments and hearts of people suffering with Marfan Syndrome.
Chances of Developing Marfan Syndrome?
Marfan's Syndrome is one of the most widespread inherited disorders regarding connective tissue. Marfan Syndrome is an autosomal dominant disorder and it occurs in about 1/10,000 people. Marfan Syndrome is not limited to a certain race/gender/ethnic group. About 75% of people with Marfan Syndrome have a parent who has the disorder as well. Children who have a parent with Marfan Sydrome have a 50% chance of receiving the disease/gene defect.
Symptoms
There are many physical symptoms that result from Marfan Syndrome. While some individuals may experience these symptoms early on, whether it be at birth or early childhood, others don't develop these features until adulthood. These features can possibly worsen over time.
*Process for Diagnosis of Marfan's Syndrome: Clinical diagnosis regarding family's medical history (as well as findings in ocular, skeletal and cardiovascular systems), Check for presence of a defect in patient's FBN1 gene as well as its genetic linkage.
*Process for Diagnosis of Marfan's Syndrome: Clinical diagnosis regarding family's medical history (as well as findings in ocular, skeletal and cardiovascular systems), Check for presence of a defect in patient's FBN1 gene as well as its genetic linkage.
Physical:
-Chest that sinks in or sticks out
-Hypotonia (Decreased muscle tone) -Flexible joints -Scoliosis -Eye defects
-Bone overgrowth |
Mental:
-Various learning disabilities |
Other:
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