Marfan+Syndrome+Melissa+R

Marfan Syndrome

**Description:** Marfan syndrome is a disorder of the connective tissue in the body; the tissue that strengthens the body’s structures. Disorders of the connective tissue affect the skeletal system, cardiovascular system, eyes and skin.

**Inheritance: ** Marfan syndrome is a disorder of the connective tissue in the body; the tissue that strengthens the body’s structures. Disorders of the connective tissue affect the skeletal system, cardiovascular system, eyes and skin. A person with Marfan syndrome is inherited which means it is passed down through families. If the father had the disease there is a fifty percent chance that he may pass it down to his offspring. None could be carriers of the disease. The disease is only passed on if one of the parents has it. If none have it then the children won’t be affected. This disease is autosomal dominant. It can only be passed on if one of the parents has the disease.

**Symptoms: ** Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of the connective tissue is to hold the body together and provide a framework throughout the body. The symptoms of this disease are the following: · Flat feet · Funnel chest · Coloborna of iris · Crowded teeth · Hypertonia · Learning disability · Movement of the eye lens · Near sightedness · Scoliosis · Small lower jaw · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Thin narrow face

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Daily Life: ** <span style="display: block; font-family: 'Times New Roman',serif; text-align: center;">Your voki will be inserted here to explain the day in the life of a person with this disorder(centered)

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">The doctor will preform a physical exam. There may be hypermobile joints and signs of: · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Aneurysm · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Collapsed lung · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Heart valve problems

<span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;">A heart exam may show: · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Defects of the lens or cornea · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Retinal detachment · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Vision problems · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Echocardiogram · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Flbrllin-1 mutation testing (in some people)

**<span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Vision problems are treated as soon as possible. Check your spinal cord for scoliosis especially during adolescence. Some doctors give medicine to slow the heart rate may help prevent stress on the aorta. Also people with Marfan syndrome should take antibiotics before dental procedures to prevent endocarditis. Avoid participating in competitive athletics and contact sports to avoid injuring the heart. Some people may need surgical replacement of the aortic root and valve.

**<span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Research: ** <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">There is a recent study being conducted. People can volunteer to practice in Marfan syndrome study. There is no known cure yet for Marfan syndrome. Doctors can treat about all of Marfan syndromes symptoms.

**<span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Marfan syndrome is named after Antoine Marfan. The French doctor who discovered the disorder in 1896. A few years ago no one lived past the age of forty if they had Marfan syndrome. Marfan syndrome is a defect in the Flbrllin-1, a special type of protein that’s found in the connective tissue. Marfan happens to about 1 in every 5,000 people. Marfan syndrome runs through both guys and girls of all ethnic backgrounds. When you have Marfan syndrome you will need to see four different doctors: · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Geneticist (gene doctor) · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Cardiologist (heart doctor) · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Ophthalmologist (eye doctor) · <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Orthopedist (bone doctor)

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Punnett Square: **



**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **

**<span style="color: black; font-family: 'Times New Roman',serif;">﻿ **<span style="color: black; font-family: 'Times New Roman',serif;">I have used the following to find my information.  **<span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **

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