Marfan Syndrome

By: Cara Small and the Supreme Leader

What is it?

Marfan Syndrome is a genetic disorder that was discovered by a French doctor, called Antoine Marfan (as you could probably tell by his last name). Antoine Marfan had discovered this disorder in 1896 and since then, we have figured out a lot more information about the disorder than what we had known then. Marfan Syndrome is a heredity disorder of connective tissue, which results in a lot of different things (defects) in our body.

Signs and Symptoms?

People with Marfan's are usually tall, thin and have elongated features. Often they have bad eyesight (nearsighted) and small pupils. Other physical details include, double jointedness, flat feet, a short torso, crowded teeth, stretch marks, a caved-in chest, and abnormally sized arms and legs.

Some problems that people with Marfan could have is mitral valve prolapse, scoliosis, heart murmur, and fatigue.

What Body Systems are Affected?

Pretty much every body system is affected by this disorder (yes, there is a lot). The skeletal system, the cardiovascular system, the nervous system, the respiratory system, and the integumentary system are all affected by this disorder.

How is this Received?

Marfan disorder is an inherited disease, which can also be caused by a mutation in a gene (in fibrillin-1). An affected person is born with this disease, but you may not know or may not be diagnosed until much later in that person's life. If your parent has Marfan disorder, you have a 50% chance of inheriting it.

Any Treatments?

To start off, there is no cure to this disorder, but there are treatments that you can get for it. These treatments are individualized to fit whatever the affected person may need. Some people with the disorder may need regular appointments with their doctors, while others to be prescribed a medication for it. In some cases, an affected person may need to get surgery, depending on how severe the disorder is for said person (surgeries for endovascular aneurysm repair, eye surgery, vitrectomy, heart valve repair, etc.). Basically, treatment can range from glasses to medicine to surgery.

Any Research Done?

The Marfan Foundation does research on Marfan disorder (as I'm sure you can tell by the name of the foundation). This foundation does more than just research on this disorder, though. The foundation also help people who are affected by it have a better life, in general, by funding and supporting families who really need the support while going through the disorder.

Punnett Square Example

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Explanation of this Example

If Marfan Syndrome was a dominant gene, this is how a punnett square chart could look like. In this chart, one parent is heterozygous dominant and the other is homozygous recessive. With these two parents, there is a 50% chance of their kid having the disease and a 50% chance that they would not (also keep in mind that if one of your parents have the disorder, you already have a 50% chance of getting the disorder). The ratio of getting it to not getting it would be 2:2