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How does marfan syndrome affect your life?
By being a homosexual!
What are common external signs of Marfan syndrome?
The most common external signs associated with Marfan syndrome include excessively long arms and legs, with the patient's arm span being greater than his or her height.
What research is being done on marfan syndrome?
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.
Is gene therapy a possiblilty for marfan's syndrome?
Gene therapy is being explored as a potential treatment for Marfan syndrome, as it has the potential to correct the underlying genetic mutation that causes the condition. However, further research is needed to determine its safety and efficacy before it can become a standard treatment option for Marfan syndrome.
What is everyday life like for people with marfan syndrome?
Everyday life for someone who has Marfan syndrome is not too bad. They may be self conscious about how they look and have trouble learning new things but they can function as a normal human being in everyday life.
What gene is being researched for its possible connection to Marfan syndrome?
Researchers in molecular biology are currently investigating the FBNI gene.
Is there any research being done on Marfan Syndrome?
Yes, there is ongoing research on Marfan syndrome, a genetic disorder that affects the body's connective tissue. Researchers are studying the underlying genetic mutations, developing new treatment options, and exploring ways to manage the symptoms and complications associated with the condition. Collaborative efforts between scientists, medical professionals, and advocacy groups aim to improve understanding and care for individuals with Marfan syndrome.
What is an Advantage of having Marfan syndrome?
Being active! As long as you don't "force" with the exercising. You have to know when to stop playing. You can also be flexible too!
Why do Marfan syndrome patients sometimes develop dental problems?
Patients with Marfan sometimes develop dental problems related to crowding of the teeth caused by a high-arched palate. They can also develop overgrowth and inflammation of the gums, due to those being part of our connective tissue.
What are the chances of a person with marfan syndrome passing it to their offspring?
Have a 50% chance of passing it on to there offspring. This is called an autosomal dominant gene. What that means is, considering each human has TWO sets of chromosomes (1 from mom, 1 from dad), it takes only ONE copy of the mutated gene being passed on for the child to inherit the syndrome. Because for the conception of each child there is a chance of passing one or the other gene on, there is a 1 in 2 or 50% chance of giving the child Marfan Syndrome.
Who discovered the Marfan Syndrome?
Antione B. MarfanMarfan syndrome was first described by a French doctor named Antione B. Marfan, who reported that one of his patients, Gabrielle, had especially long fingers (he called this arachnodactyly, or spider-fingers), skeletal abnormalities (including arms that were disproportionately long), and high, arched pallets. He also noticed spine defects. Antione noted that these traits seemed to be inherited, and it is now certain that Marfan syndrome is a hereditary disorder, and the gene for it is autosomal dominant A dominant gene is one that will overwrite other genes so that only one is required for the trait that that particular gene carries to be expressed. A person who inherits a dominant gene from one parent will automatically have the trait that the gene produces, unlike with recessive genes in which a gene for the trait must be inherited from each parent for the trait to show. Autosomal means that the gene is on a non-sex chromosome. There are 46 chromosomes in every human cell, and they make 23 pairs, each one connected by a centrome. The 23rd pair consists of the sex chromosomes.The gene for Marfan syndrome is located on chromosome fifteen. This gene causes the occurrence of too many microfibrillar fibers in the connective tissue, which results in a lack of flexibility in the body's tissues.Marfan syndrome almost always occurs as an inherited trait (about 75% of the time), but it can sometimes show up spontaneously in a person from a family that has never shown any signs of the disorder. Marfan syndrome, because it is dominant, will not skip generations (a recessive gene can be passed on without showing up for many generations, because two are needed for the trait to show, but if a dominant gene is going to show up, it will do so right away). Marfan syndrome has a 50% chance of being passed on to the children of an affected person. If the gene for Marfan syndrome is passed on, it will invariably show up, but the degree to which it shows its symptoms varies considerably, even within a family.Skeletal abnormalities that have been noticed in Marfan patients are a long face, an unusually tall stature, a short upper body in comparison to the lower body (because they have a short ribcage), and overgrown ribs. The latter results in chest deformities such as Pectus Excavatum (funnel chest) or Pectus Carnatum (pigeon breast). A wide pelvis, elongated skull, and prominent shoulder blades are other symptomsOne of the most distinctive characteristics of Marfan's Syndrome is unusually long arms, fingers, and toes. These skeletal problems can show up in either childhood or adolescence, and sometimes they do not show up at all Extremely mobile joints are another common characteristic.A good many patients have eye problems, like dislocated lenses, severe nearsightedness, iridodensis (a quivering motion of the iris), cataracts, detaching retinas, and glaucoma.The life-threatening risk to Marfan syndrome is that the aorta can grow to be too large, develop weak spots (aneurysms) and then tear (dissect). Without surgery, a person can die.People with Marfan's Syndrome often suffer from various lung problems as well.For more information www.marfan.org
How is the family of a person with marfan syndrome affected?
The family of a person with Marfan syndrome may experience emotional and psychological stress due to the challenges associated with the condition, such as health complications and the need for ongoing medical care. They may also face uncertainties regarding the genetic nature of the syndrome, as it can be inherited, prompting concerns about other family members being at risk. Additionally, families may need to adapt their lifestyles and support systems to accommodate the affected individual's needs. Overall, the impact can be significant, requiring education, awareness, and often, a strong support network.
