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Marfan Syndrome: Causes, Symptoms, and Occurrence

Christabel EgbeamabyChristabel Egbeama
October 9, 2024
in Health
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Marfan Syndrome: Causes, Symptoms, and Occurrence

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Marfan syndrome is a genetic condition that affects the connective tissue. The connective tissue helps support the organs, bones, and blood vessels. Having Marfan syndrome means the connective tissue doesn’t work as well as it should. This genetic condition is pretty rare, affecting “1 in 3000 to 5000 individuals.”

Marfan Syndrome is usually passed down from parents to children through genes. So what this means is that if one parent has the condition, there’s a 50% chance their child could have it too. But this condition can be a little tricky since some percentage of people still have it even though no one in their family has it. In this article, we’re going to describe what this syndrome looks like, its symptoms, and other causes.

Photo by Canva Pro

Table of Contents

Toggle
  • Causes of Marfan Syndrome
  • Symptoms of Marfan Syndrome
  • What Marfan Syndrome Does To The Body
  • Conclusion

Causes of Marfan Syndrome

Aside from being passed down from parents to children, this condition can happen because of genetic mutations in the FBN1 gene. These changes or mutations in the DNA occur naturally. These mutations can happen for no clear reason (spontaneous mutations) or be passed down from parents with mutated genes.

In other cases when the mutated genes weren’t passed down from the parents, the mutation happens during the formation of reproductive cells (sperm or egg). Genetic mutations like this can happen during cell division, where small errors in copying DNA can lead to changes in the genes. These changes then affect how the gene functions, leading to genetic disorders like Marfan syndrome.

Symptoms of Marfan Syndrome

When you see people with this syndrome, they always have certain noticeable traits. They are very tall with arms that are longer than usual, same with their toes, legs, and fingers. Their joints can be really flexible which causes them joint pain. Other symptoms include:

  • Tall and long fingers, toes, arms, or legs
  • Bendy joints
  • Curved back (scoliosis)
  • Chest sticking out or sinking in
  • Vision problems
  • Heart problems
  • Stretch marks

What Marfan Syndrome Does To The Body

Marfan syndrome happens because of a change in a gene called FBN1. This gene helps the body to make a protein called fibrillin-1 which helps to build connective tissue. The connective tissue supports the skin, bones, eyes, and even the blood vessels; it literally holds everything together and gives it strength and flexibility.

In a case of this syndrome, the body either makes too little fibrillin-1 or makes it incorrectly. This weakens connective tissue and makes parts of the body like the heart and blood vessels weak and stretchy. Because of that, people suffering from Marfan syndrome have long limbs, joint problems, and heart issues.

Conclusion

If you notice that you or someone in your family is really tall and has long arms, legs, fingers, or toes, it might be a sign to see a doctor. Now, for newborns, figuring out if they have Marfan syndrome can be a bit tricky. Sometimes, if a baby is longer than usual or has long fingers and a chest that looks a little sunken or sticks out, it could be a sign of Marfan syndrome, so you have to check with the doctors. Also, if they seem really flexible or if there’s a heart murmur, that could be a clue.

Tags: and Occurrencefederal characterhealthMarfan Syndrome: Causessymptoms
Christabel Egbeama

Christabel Egbeama

Christabel Egbeama is a health writer and aspiring consultant engineer who recently completed her bachelor's degree in civil engineering. Her passion for safety in the construction industry led her to delve into public health writing. Having undergone training in health, safety, and environment, Christabel has established a foundation rich in comprehending the broader spectrum of health and its benefits for individuals across various ages and professions. She now produces compelling holistic health articles aimed at guiding individuals towards informed decisions for a healthier tomorrow, encouraging lifestyle modifications.

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