- Marfan syndrome facts*
- What is Marfan syndrome?
- What are the symptoms of Marfan syndrome?
- What causes Marfan syndrome?
- How is Marfan syndrome diagnosed?
- What types of doctors treat Marfan syndrome?
- What treatment options are available for Marfan syndrome?
- What are some of the emotional and psychological effects of Marfan syndrome?
- What research is being conducted on Marfan syndrome?
- Where can people find additional information about Marfan syndrome?
- Patient Comments: Marfan Syndrome - Experience
- Patient Comments: Marfan Syndrome - Causes
Marfan syndrome facts*
*Marfan syndrome facts medical author: William C. Shiel Jr., MD, FACP, FACR
- Marfan syndrome is a disease of connective tissues that is inherited.
- The severity of Marfan syndrome varies from one individual to another and it typically progresses over time.
- A tall, slender build is characteristic of Marfan syndrome.
- Marfan syndrome affects the skeleton, eyes, heart and blood vessels, nervous system, skin, and respiratory system.
- Marfan syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue.
- There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor with special knowledge about inherited diseases) relies on observation and a complete medical history and examination.
- There is no cure for Marfan syndrome. However, a range of treatment options are designed to minimize and prevent complications.
Medically Reviewed by a Doctor on 8/1/2012
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