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MARFAN SYNDROME
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MARFAN
SYNDROME
Done by: Natalie. J and Fatima. S
Presented to: Mrs Rehab
WHAT IS MARFAN SYNDROME?
- Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.
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WHO HAS MARFAN SYNDROME?
- About 1 in 5,000 people have Marfan syndrome.
- About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it.
- Some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation.
WHAT ARE THE CAUSES OF MARFAN SYNDROME?
Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome.
Fibrillin is a protein that plays a major role in your body's connective tissue.
Most people who have Marfan syndrome inherit it from their parents. If you have the condition, you have a 50 percent chance of passing the altered gene to each of your children.
Marfan Traits
Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:
- A tall, thin build.
- Long arms, legs, fingers, and toes and flexible joints.
- A spine that curves to one side. This condition is called scoliosis.
- A chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively.
- Teeth that are too crowded.
- Flat feet.
Stretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen.
Not everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders.
Heart and Blood Vessel Complications
Eye Complications
Nervous System Complications
Lung Complications
Heart and Blood Vessel Complications
Marfan syndrome can affect the aorta
Marfan syndrome also can cause problems with the heart's mitral valve
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