Marfan Syndrome
Einstein Health Glossary
ICD 10 - Q874
What is Marfan Syndrome?
Marfan syndrome is a hereditary condition that affects connective tissue, which provides support and structure to the body. The condition causes abnormalities in various parts of the body, such as the bones.
Symptoms
People with Marfan syndrome are tall and have long arms, legs, and fingers. Hyperflexible joints, nearsightedness, and weakened blood vessels may also occur.
Causes
Marfan syndrome is caused by a mutation in a gene. This mutation leads to problems with the body's support, structure, and filling.
Diagnosis
Diagnosis of Marfan syndrome includes a clinical evaluation and investigation of family history. The doctor may request genetic testing.
Prevention Method
People with Marfan syndrome who wish to become parents can seek counseling to discuss options for not passing the mutated gene on to their child. Once the mutation is present, prevention is not possible.
Treatment
Marfan syndrome has no cure. Treatment depends on the symptoms and may include medications and surgeries to correct some structural changes.
Duration
Marfan syndrome is a hereditary condition, and patients live with it for their entire lives.
Contagious?
Marfan syndrome is not contagious.
Can it be contracted more than once?
People are born with Marfan syndrome. Those with the condition live with it for life.