Marfan Sydrome

With proper diagnosis and treatment (medications, regular echocardiograms of the entire aorta, following activity restrictions, surgery when necessary), the average life expectancy is in the early to mid 70s: pretty close to the general population. However, without proper diagnosis and treatment, this falls into the 40s.

Marfan syndrome is an autosomal dominant disorder. An affected person has a 50% chance of passing it on to each offspring, regardless of gender.

By being a homosexual!

Marfan syndrome is caused by a mutation in FBN1, which is fibrillin. There are over 600 known mutations that cause Marfan. It's interesting...most mutations are found in an individual family and no one else in the world. Only 12% of mutations overlap between unrelated people. Because of this, genetic testing is not beneficial unless a person 1) already meets many clinical criteria or 2) has an immediate family member who has tested positive for an FBN1 mutation (so that you know whether it's a disorder causing mutation or a benign mutation, like every person has thousands of). Marfan is autosomal dominant, so if a person has the mutation they have the disorder, and they have a 50% chance of passing it on to their offspring.

There are other disorders that also are caused by FBN1 mutations, such as ectopia lentis and MASS Phenotype. Therefore, clinical criteria is still vital to make a firm diagnosis.

Marfan syndrome shows up at birth.

Marfan syndrome is a genetic disorder that primarily affects connective tissue, leading to a range of symptoms that can significantly impact an individual’s health and daily life. Common symptoms include tall stature, long limbs, and flexibility in joints, which can affect mobility and physical performance. Cardiovascular issues, such as aortic dilation or dissection, pose serious health risks, while ocular problems like lens dislocation can impair vision. Overall, individuals with Marfan syndrome may face challenges related to physical activity, cardiovascular health, and vision.

There is a 100% probability of his child having Marfan's syndrome.

The syndrome is carried by the FBN1 gene, and is dominant so there is no way to avoid having the disease. However the severity of it may vary from mild to severe, so his child may suffer from a mild form of the syndrome.

Yes Marfan syndrome is a dominate disorder that affects the bodies connective tissue. it also causes problems in the heart, eyes and bones

whats another name for marfan syndrom

French doctor Bernard J.A. Marfan in 1896.

About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

The difference is thew lack of continual growth. A person with Marfan Reaches a normal height and they stop growing. A person with gigantism grows constantly due to a pituitary tumor which is not cancerous. The condition called Acromagaly is the cause of a tumor as well. The symptoms are enlarged facial feature, enlarged hands, the size of the feet increases.The bones get thicker and heavier, persistent headaches, moodiness, back pain, knee pain, heavy sweating, oily skin, and heavy weight gain. Marfan patients have heart related issues but the life expectancy has doubled over the last 20 years. Marfan patents do not grow but can reach the height of 7 feet or better. I hope this helps.

Yes you can catch it in many ways

• A chest that sinks in or sticks out.
• flat feet
• highly arched palate and crowded teeth
• hypotonia (state of low muscle tone)
• joints that are too flexible
• learning disability
• movement of the lens of the eye from its normal position
• nearsightedness
• small lower jaw
• spine that curves to one side
• thin, narrow face

blah all the info that u put down on ur papers u will get wrong people dont always put the right answers down or they only do it half way

1.Skeletal system - grow above average height

2.cardiovascular system - undue fatigue shortness of breath etc

3. Eyes - nearsightedness

4.cns - weakening of the membrane that encases the spinal cord

5. Lungs - risk factor for pneumothorax (air escapes into the viseral pleura)

There is no set height for people with Marfan syndrome. There was even a man who had both dwarfism and Marfan syndrome! People with Marfan are USUALLY taller than unaffected family members, but not always. More important than a person's height are their ratios (arm span to height, upper torso to lower torso), flexibility, condition of their aorta, and condition of their eyes.

Research on Marfan syndrome includes studying the underlying genetic mutations, developing new treatments to manage symptoms, and improving diagnostic methods. Additionally, there is ongoing research to better understand the complications associated with Marfan syndrome and to find ways to prevent them. Clinical trials are also being conducted to evaluate potential therapies for this condition.

1 out of 5,000

With proper treatment (medications, regular checks of the aorta, preventative surgery), a person with Marfan syndrome has an average life expectancy into their mid 70s. If a person does not know they have the diagnosis or does not do proper care, the life expectancy can be the 40s. This is why proper diagnosis is key!

Some of the effects on a person with Marfan's syndrome might be that they would have bad eyesight, they would be abnormally tall (7ft), they might also have a long face and loose joints.

They cant exercise as vigorously as someone without Marfan syndrome

Abraham Lincoln