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.