Marfan syndrome is a genetic disorder affecting connective tissues in many body parts. Marfan syndrome can affect the lungs, eyes, skin, skeletal system and cardiovascular system. It is caused by a mutation in the FBN1 gene, which provides instructions to the body on how to make fibrillin-1, an important part of connective tissues.
Marfan syndrome affects many parts of the body and can cause a wide range of symptoms. In some cases, symptoms may not be noticeable until later in the late teen years or adulthood. Certain symptoms may become worse or more noticeable with time.
Some common features of Marfan syndrome include:
Marfan syndrome can also cause complications:
Marfan syndrome is caused by a genetic mutation in the FBN1 gene. This gene controls the production of fibrillin-1, a protein that helps provide strength and flexibility to connective tissue throughout the body. Most cases of Marfan syndrome are passed down from a parent. However, around 25% of cases are the result of a spontaneous genetic mutation. Marfan syndrome is hereditary.
There is no cure for Marfan syndrome, but treatment can be used to reduce complications. Children with Marfan syndrome will have routine visits to check their heart and aorta, skeletal system and eyes.
Treatment is different for everyone and will depend on your child’s symptoms. Your care team at Arkansas Children’s is experienced in treating Marfan syndrome and will work with you to develop the best treatment plan for your child’s specific symptoms.