What is Marfan Syndrome?
What is Marfan Syndrome?Marfan syndrome is a genetic disorder that affects the body’s connective tissues, which support and lend strength to organs and other body structures. Marfan syndrome most often impacts the bones, eyes, heart, and blood vessels.
Signs & Symptoms of Marfan Syndrome
SymptomsMarfan syndrome can cause various symptoms since so many areas of the body can be affected. Symptom severity ranges from mild to life-threatening.
Some symptoms of Marfan syndrome include:
- A very tall and thin body type
- Disproportionately long arms, legs, fingers, and toes
- Abnormal curvature of the spine
- A protruding or sunken chest
- Nearsightedness
- Flat feet
- Crowded teeth
- Cardiac problems
- Lens dislocation
What Causes Marfan Syndrome?
CausesMarfan syndrome is caused by a mutation in the gene for Fibrillin-1 (FBN1), a protein needed to build the body’s connective tissues. A child often inherits this mutation from a parent with the disorder. In about 25 percent of Marfan syndrome cases, a child spontaneously develops the gene mutation. Marfan syndrome is rare, occurring in about 1 in every 5,000 people.
Risk Factors
Risk FactorsMarfan syndrome occurs in all racial and ethnic groups and occurs equally among men and women. The biggest risk factor for a child being born with Marfan syndrome is one of the parents having the condition. Every child with an affected parent has a 50 percent chance of inheriting the disorder.
Complications
ComplicationsMarfan syndrome can affect many parts of the body and consequently can cause various complications. Some complications are relatively minor, while others can be dangerous and even life-threatening. Some complications that may present as a result of Marfan syndrome include:
- Aortic disease. Marfan syndrome commonly affects the cardiovascular system by damaging the aorta and making it more fragile. The disorder can lead to an aortic aneurysm, where the aorta bulges out due to blood pressure. This can lead to aortic dissection, a tear or rupture in the aortic wall, which can be fatal. Marfan syndrome can also cause problems with the aortic or mitral heart valves.
- Eye and vision complications. Marfan syndrome often affects eye structures and leads to difficulties in vision. If supporting structures in the eye are weak, the lens or retina can detach or dislocate. People with the disorder are also at a higher risk of developing myopia (nearsightedness), glaucoma, cataracts, and astigmatism.
- Dural ectasia. Marfan syndrome can weaken the Dural sac, a membranous structure surrounding the spinal cord. This can lead to Dural ectasia, in which the sac widens or balloons.
- Hernia. Tissue or internal organs can push through a gap in muscles of the abdomen that have been weakened by Marfan syndrome causing a hernia.
Trust NewYork-Presbyterian for Marfan Syndrome Care
Marfan syndrome can present with various symptoms and requires a comprehensive understanding of the treatment options available for children diagnosed with the condition. You can schedule a consultation with our multidisciplinary pediatric team at many different top-notch facilities within the NewYork-Presbyterian network. You can be confident your child will receive the best possible care.