Marfan+Syndrome

AG&CHAD Austin I edited the last three sections

Single Allele dominant/recessive Multiple Allele Polygenic X-Linked Sex-Influenced Nondisjunction || single allele dominant || -alternative names of the disorder -frequency (how many people in the world have this, how many babies a year are born with this?) || The growth and development of the body are affected, particularly in the connective tissues of the aorta, eye and skin. It causes overgrowth of the long bones of the body, resulting in tall height, long arms and legs, and a weakened structural support in blood vessels, heart valves, cartilage and ligaments.
 * ** 1. What is the Pattern of Inheritance: **
 * ** 3. Characteristics of the Disorder: **

1/5000 people in the US. people of all races, ethnic backgrounds. men, women, and children || ** - ** traits/behaviors/characteristics -how does it affect individuals with the disorder, what is it like to have it, problems associated with the disorder -is it life threatening, physically limiting? || Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:
 * ** Cont. of Characteristics: **


 * tall, thin build.
 * long arms, legs, fingers, and toes and flexible joints.
 * scoliosis. this is when the spine curves to one side
 * chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively.
 * crowded teeth
 * flat feet.

Stretch marks on the skin also are a common trait in people with Marfan syndrome. Stretch marks can appear nearly anywhere on the body except for the extremeties. Not everyone who has these traits has Marfan syndrome. Some of these traits are also signs of other connective tissue disorders. || thearipies meds percutions
 * ** treatments **

lifestyle adaptations, education || Aortic dilation, is when the main artery of the heart becomes larger and as it streached it gets weaker. Medicines are used to try to slow the rate of aortic elargation. Surgery can replace the artery that streaches. Beta blockers help your heart beat slower so the artery does not strech to far. These medicines may help relieve strain on your aorta and slow the rate of aortic dilation. Lung, bone, eye, joint, and nervoius system’s treatments can also be done.

There is no cure for Marfan syndrome. To make one, scientists have to find changes in the specific gene responsible for the disorder. However, a range of treatment options can minimize and sometimes prevent complications.
 * **Skeletal **- Annual evaluations can detect changes in the spine, which is especially important for those in stages of growth such as adolescence.
 * **Eyes **- Regular eye examinations are necesary for identifying and correcting any vision problems associated with Marfan syndrome. In most cases, glasses or contacts can correct the problem, but surgery may be necessary in some cases.
 * **Heart and blood vessels **- Regular checkups and doctors evaluate the size of the aorta and the way the heart is working. The earlier a potential problem is identified, the lower the risk of life-threatening complications .
 * **Nervous system **<span style="font-family: 'Arial','sans-serif';"> - If swelling of the covering of the spinal cord develops, medication may help lessen any pain.


 * **<span style="font-family: 'Arial','sans-serif';">Lungs **<span style="font-family: 'Arial','sans-serif';">- It is especially important that they avoid smoking. There is already a risk for lung damage.

<span style="color: black; font-family: 'Arial','sans-serif'; line-height: normal; margin: 0in 0in 12pt;">Pregnancy poses a particular concern due to the stress on the body, particularly the heart. While eating a balanced diet is important for maintaining a healthy lifestyle. For most people with Marfan syndrome, engaging in moderate arobic exeercises is important for promoting skeletal and cardiovascular health and a sense of well-being. However, because of the risk of aortic dissection, people with the syndrome should not engage in sports. || -Can it be prevented? -If so, HOW? -If not, WHY not? || There are no ways to prevent it, because it is inherited and every cell in the body has it. || -Can it be detected? -If so, HOW? -If not, why? || Many of the traits can be found by a simple medical exam where the doctor may check the curvature of the spine. Eckocariography, <span style="color: black; font-family: 'Arial','sans-serif';">or echo, is a test that uses sound waves to Make pictures of your heart and blood vessels. a MRI can be used that is a test that uses radio waves and magnets to create pictures of organs and tissues. computer imaging is use of an x-ray machine to take pictures of organs. ||
 * ** 5. Prevention: **
 * ** 6. Testing: **

à Things to think about when doing your research: Are there interesting or statistics about your disorder? How will this disorder affect a person’s quality of life? What can parents do/learn about to ensure a healthy happy life?

1. [] <span style="color: black; font-family: 'Arial','sans-serif'; margin: 0in 0in 10pt;">2."What Is Marfan Syndrome?" //National heart, lung and blood institute//. Department <span style="color: black; font-family: 'Arial','sans-serif'; margin: 0in 0in 10pt;">of health and human services, National insitutes of health, and National <span style="color: black; font-family: 'Arial','sans-serif'; margin: 0in 0in 10pt;">heart, lung, and blood institute, 2010. Web. 7 Mar. 2011. <span style="color: black; font-family: 'Arial','sans-serif'; margin: 0in 0in 10pt;"><http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_whatis.html>. <span style="color: black; font-family: 'Arial','sans-serif';">3. <span style="color: #000099; font-family: 'Arial','sans-serif'; font-size: 11pt; line-height: 115%;"><span class="wiki_link_ext">http://en.wikipedia.org/wiki/Chromosome_15_(human)

<span style="color: #000099; font-family: 'Arial','sans-serif'; font-size: 11pt; line-height: 115%; margin: 0in 0in 10pt;"><span class="wiki_link_ext">PICS <span style="color: #000099; font-family: 'Arial','sans-serif'; font-size: 11pt; line-height: 115%; margin: 0in 0in 10pt;"><span class="wiki_link_ext">1. [] <span style="color: #000099; font-family: 'Arial','sans-serif'; font-size: 11pt; line-height: 115%; margin: 0in 0in 10pt;"><span class="wiki_link_ext">2. [] <span style="color: #000099; font-family: 'Arial','sans-serif'; font-size: 11pt; line-height: 115%; margin: 0in 0in 10pt;"><span class="wiki_link_ext">3.http://www.sciencephoto.com/images/download_lo_res.html?id=772100017 <span style="color: #000099; font-family: 'Arial','sans-serif'; font-size: 11pt; line-height: 115%; margin: 0in 0in 10pt;"><span class="wiki_link_ext">4. [] <span style="color: #000099; font-family: 'Arial','sans-serif'; font-size: 11pt; line-height: 115%; margin: 0in 0in 10pt;"><span class="wiki_link_ext">5.http://www.medstudents.com.br/original/revisao/marfan/marfan.htm