Marfan Syndrome

Marfan syndrome facts*

*Marfan syndrome facts medical author:

  • 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.
Reviewed on 8/1/2012


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Marfan Syndrome Symptoms

Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family.

Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. This can cause many complications, some of which are life threatening.

Marfan Traits

Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:

  • A tall, thin build.
  • Long arms, legs, fingers, and toes and flexible joints.
  • A spine that curves to one side. This condition is called scoliosis.
  • A chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively.
  • Teeth that are too crowded.
  • Flat feet.

Stretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen.

Not everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders.

SOURCE:
NIH National Heart, Lung, and Blood Institute

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