Two children affected by Marfan syndrome

Antoine Marfan first described the

syndrome in 1896, when he witnessed

strange features in a five year old girl, who

was a patient of his. The girl was thin, and

had abnormally long limbs, fingers, and

toes. For being one of the first to discover

the syndrome, it was named after him.

Marfan syndrome is a genetic disorder

that affects the connective tissue in one’s

body. It has been linked to the FBN1 gene

on chromosome 15, which codes a protein

called fibrillin-1. About 1 in every 10,000

people has Marfan syndrome, and there is

no apparent prevalence in race or gender.

The most common symptoms of

Marfan syndrome involve the eyes,

skeleton, and cardiovascular system. An

individual affected with this syndrome may

have the lens of their eye displaced from

the center of their pupil.

Someone who has Marfan syndrome

may have skeletal problems. Their bones

may overgrow, and their joints may be

loose. Their limbs will be abnormally long,

and scoliosis may develop. Also, indentation

or protrusion of the sternum may occur.

Cardiovascular problems are the most

severe symptom of Marfan syndrome. One’s

aorta may become dilated, which may

cause it to tear or rupture. Also, shortness

of breath, irregular pulse, and tiredness are

possibilities.

The mode of inheritance for Marfan

syndrome is autosomal dominant. This

means that if even only one of the parents

is a carrier of the syndrome, the child still

has a chance of inheriting it. However, even

if neither parent has it, the child still may

develop the syndrome due to de novo

mutation.

People are mainly diagnosed with Marfan

syndrome through examinations, although

genetic testing is available. There is no cure for

the syndrome, but it can be treated. Treatment

involves a team of geneticists, cardiologists,

orthopedists, and cardiothoracic surgeons.

Medications are prescribed to help prevent some

symptoms, but Marfan itself can’t be prevented.