Marfan Syndrome in Children: What You Should Know

Have you ever heard of Marfan syndrome? In this article, we'll talk about this genetic disorder and how it affects children.

Marfan syndrome is a genetic and hereditary disorder that affects the connective tissue. Nowadays, approximately, 1 in 5,000 children have this syndrome.

Antoine Marfan, French doctor, discovered this disorder in 1896. Do you want to know its cause, characteristics, possible treatment and prognosis? Then, pay attention to our following explanation.

Marfan syndrome in children

Marfan syndrome is a genetic disorder caused by mutations or defects in the fibrillin 1 gene, which is on the chromosome 15. This is an essential component of the connective tissue. Therefore, children with this syndrome usually have problems in the skeletal and cardiovascular system, eyes, lungs and skin.

More specifically, the most common symptoms of Marfan syndrome are:

• Tall stature.
• Thin complexion.
• Abnormally thin and long limbs.
• Hypotonia.
• Thorax may cave in or stick out.
• Flat feet.
• Abnormal joint flexibility.
• Narrow and thin face.
• Scoliosis.
• Micrognathia (small lower jaw).
• High-arched palate and crowded teeth.
• Heart murmur.
• Pneumothorax (lung collapse).
• Extreme myopia.
• Subluxation of the lens (displacement from its normal position).

Nevertheless, these symptoms and their seriousness may vary in each case.

Treatment

Today, there’s no cure for Marfan syndrome. However, there are several treatments to help alleviate most of the symptoms.

In order to identify the type of treatment, it’s important that children visit the pediatrician regularly. This way, the doctor will be able to detect and treat possible affections in the bones, heart, eyes, skin or lungs. Generally speaking, treatments may include:

• Medication: beta blockers, to reduce heart rate and blood pressure.
• Ophthalmology: to solve problems in the eyes.
• Physiotherapy: to improve muscle tone and treat possible physical pain.
• Surgical interventions: to replace the aortic valve or root, if necessary.
• Orthopedic corset: to treat scoliosis.

Marfan syndrome’s prognosis

Marfan syndrome is a rare disease, which isn’t easy to diagnose during childhood. This is because its symptoms are similar to other disorders that affect the connective tissue. Furthermore, many of the typical abnormalities become notorious later on.

So, more research is necessary about this disorder and its consequences during the first years of life. Consequently, this would help detecting and treating this disease as soon as possible, and thus, obtaining a better prognosis.

In fact, because of scientific advances during the last years, life expectancy of patients with Marfan syndrome has increased significantly. And, it went from 45 to 72 years old.

Giving visibility to Marfan syndrome

In order to obtain more results related to Marfan syndrome’s prognosis and treatment, it’s necessary to raise awareness about its characteristics and symptoms. As a result, doctors would make faster diagnosis and would be able to increase the life expectancy of their patients.

For this reason, the Day of Marfan Syndrome is celebrated every year in Europe on December 3rd. Therefore, this is a very important day to claim for the recognition of these people and to raise awareness about their needs.

Fortunately, nowadays, there are famous people who fight for this cause, such as Isaiah Austin (basketball player), Javier Botet (Spanish actor), Carca (Argentinean musician), and Bradford Cox (lead singer of the band Deerhunter). All of these people suffer from Marfan syndrome.

As a result, these famous people can become inspiring role models for children who suffer from this syndrome – as they’re real, successful people who represent what life can be like with this disorder.