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Diseases » Marfan syndrome » Signs
 

Signs of Marfan syndrome

Symptoms of Marfan syndrome

The list of medical symptoms mentioned in various sources for Marfan syndrome may include:

Note that Marfan syndrome symptoms usually refers to various medical symptoms known to a patient, but the phrase Marfan syndrome signs may often refer to those signs that are only noticable by a doctor.

Signs or Symptoms of Marfan syndrome:

Genes and Disease by the National Center for Biotechnology (Excerpt)

Marfan syndrome is a connective tissue disorder, so affects many structures, including the skeleton, lungs, eyes, heart and blood vessels. The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln. (Source: Genes and Disease by the National Center for Biotechnology)

Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS (Excerpt)

People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, "spider-like" fingers. Other problems include skeletal malformations, abnormal position of the lens of the eye, and enlargement at the beginning part of the aorta, the major vessel carrying blood away from the heart. If left untreated, an enlarged aorta can lead to hemorrhage and even death. This disorder results from mutations in the gene that makes fibrillin-1, a protein important to connective tissue. (Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)

Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS (Excerpt)

This disorder results from mutations in the gene that makes fibrillin-1, a protein important to connective tissue. (Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)

Questions and Answers about Marfan Syndrome: NIAMS (Excerpt)

Marfan syndrome affects different people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the disorder progresses as the person ages. The body systems most often affected by Marfan syndrome are:

  • Skeleton--People with Marfan syndrome are typically very tall, slender, and loose jointed. Since Marfan syndrome affects the long bones of the skeleton, arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A person with 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 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 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 Marfan syndrome have abnormalities 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 cause 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 (aortic dissection) 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 composed of connective tissue. As people with 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 Marfan syndrome develop stretch marks on their skin, even without any weight change. These stretch marks can occur at any age and pose no health risk. However, people with Marfan syndrome are also at increased risk for developing an abdominal or inguinal hernia where a bulge develops that contains part of the intestines.

  • Lungs--Although connective tissue abnormalities make the tiny air sacs within the lungs less elastic, people with Marfan syndrome generally do not experience noticeable problems with their lungs. If, however, these tiny air sacs become stretched or swollen, the risk of lung collapse may increase. Rarely, people with Marfan syndrome may have sleep-related breathing disorders such as snoring or sleep apnea (a sleep disorder characterized by brief periods when breathing stops).
(Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)

More Symptoms of Marfan syndrome:

More detailed symptom information may be found on the symptoms of Marfan syndrome article. In addition to the above medical information, to get a full picture of the possible signs or symptoms of this condition and also possibly the signs and symptoms of its related medical conditions, it may be necessary to examine symptoms that may be caused by:

Medical articles on signs and symptoms:

These general reference articles may be related to medical signs and symptoms of disease in general:

What are the signs of Marfan syndrome?

The phrase "signs of Marfan syndrome" should, strictly speaking, refer only to those signs and symptoms of Marfan syndrome that are not readily apparent to the patient. The word "symptoms of Marfan syndrome" is the more general meaning; see symptoms of Marfan syndrome.

The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Marfan syndrome. This medical information about signs and symptoms for Marfan syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Marfan syndrome signs or Marfan syndrome symptoms. Furthermore, signs and symptoms of Marfan syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Marfan syndrome symptoms.

 

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