Marfan syndrome is a disorder of connective tissue. Connective tissue holds all parts of the body together and helps control how the body grows. Because connective tissue is found throughout the body, Marfan syndrome features can occur in many different parts of the body. Marfan syndrome features are most often found in the heart, blood vessels, bones, joints, and eyes. Sometimes, the lungs and skin are also affected. Marfan syndrome does not affect intelligence.

Each child of a person who has the Marfan syndrome has a 50 percent chance of inheriting the disorder. Sometimes a new gene defect (a spontaneous mutation) occurs during the formation of sperm or egg cells resulting in a baby with the Marfan syndrome. However, two unaffected parents have only a 1 in 10,000 chance of having a child with the Marfan syndrome. Approximately 25% of cases are due to a spontaneous mutation at the time of conception.

The National Marfan Foundation's mission includes other related disorders, such as:

• Aneurysms & Dissections
• Mitral Valve Prolapse
• Skeletal Features/MASS Phenotype
• Loeys-Dietz
• Lens Dislocation
• Beals syndrome

National Marfan Foundation is the recognized authority on Aortic Dissection by the American Heart Association.

1. Arm span (or wing span) is greater than a persons? height
2. When wrapping the pinky and thumb of one hand around the wrist of the other hand, the pinky and the thumb touch
3. Near sighted
4. History of lung collapse
5. Noticeably larger than their average family members
6. Chest plate protrudes or is caved into the chest
7. Very flexible, can put arms or legs in contortionist positions
8. Long thin face, hands and fingers

Skeleton- People with the Marfan syndrome are typically, but not always, very tall or taller than unaffected people in their family, slender and loose jointed. The Marfan syndrome affects the long bones of the skeleton. Therefore the arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A person with the Marfan syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented, curvature of the spine (scoliosis), and flat feet.

Eyes- More than half of all people with the Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and obvious. Retinal detachment is a possible serious complication of this disorder. Many people with the Marfan syndrome are also nearsighted (myopic), and some can develop early glaucoma (high pressure within the eye) or cataracts (the eye's lens loses its clearness).

Heart and blood vessels (cardiovascular system)- Most people with the Marfan syndrome have problems associated with the heart and blood vessels. The valve between the left chambers of the heart is defective and may be large and floppy, resulting in an abnormal valve motion when the heart beats. In some cases, the valve may leak, creating a "heart murmur," which a doctor can hear with a stethoscope. Small leaks may not cause any symptoms, but larger ones may result in shortness of breath, fatigue and palpitations (a very fast or irregular heart rate). Because of faulty connective tissue, the wall of the aorta (the large artery that carries blood from the heart to the rest of the body) may be weakened and stretch, a process called aortic dilation. Aortic dilation increases the risk that the aorta will tear (dissect) or rupture, causing serious heart problems or sometimes sudden death.

Nervous system- The brain and spinal cord are surrounded by fluid contained by a membrane called the dura, which is comprised of connective tissue. As people with The Marfan syndrome get older, the dura often weakens and stretches, then begins to weigh on the vertebrae in the lower spine and wear away the bone surrounding the spinal cord. This is called dural ectasia. These changes may cause only mild discomfort or may lead to radiated pain in the abdomen or to pain, numbness or weakness of the legs.

Skin- Many people with The Marfan syndrome develop stretch marks on their skin, even without any significant weight change or pregnancy. These stretch marks can occur at any age and pose no health risk. The stretch marks tend to appear at sites subject to stress such as shoulders, hips and lower back. The stretch marks require no treatment. In addition, people with the Marfan syndrome are also at increased risk for developing an abdominal or inguinal (groin) hernia where a bulge develops that contains part of the intestines. This requires medical treatment.

Lungs- Restrictive lung disease, primarily due to pectus abnormalities and/or scoliosis, occurs in 70 percent of persons with MFS. In addition, because fibrillin is expressed in the lung and is associated with elastin there, Marfan fibrillin deficiency is thought to affect both lung development and homeostasis. Spontaneous pneumothorax (collapse of the lung in the absence of trauma) and early emphasema, without a history of smoking, may be consequences of the fibrillin-1 deficiency. Sleep-related breathing disorders, such as snoring and sleep apnea, are also associated with Marfan syndrome, even when the person is not overweight.

Content on this page provided by the National Marfan Foundation