The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. The two primary features of Marfan syndrome are vision problems caused by a dislocated lens ectopia lentis in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body the aorta.
The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall an aneurysm. Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall aortic dissection. Aortic aneurysm and dissection can be life threatening. Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart mitral valve prolapse or the valve that regulates blood flow from the heart into the aorta aortic valve regurgitation.
Leaks in these valves can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats palpitations. Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes arachnodactyly , loose joints, and have an arm span that exceeds their body height.
Other common features include a long and narrow face, crowded teeth, an abnormal curvature of the spine scoliosis or kyphosis , stretch marks striae not related to weight gain or loss, and either a sunken chest pectus excavatum or a protruding chest pectus carinatum. Some individuals develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung spontaneous pneumothorax.
A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged dural ectasia in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan syndrome have some degree of nearsightedness myopia.
Clouding of the lens cataract may occur in mid-adulthood, and increased pressure within the eye glaucoma occurs more frequently in people with Marfan syndrome than in those without the condition. Marfan syndrome an inherited disorder of connective tissue occurring once in every 10, to 20, individuals. Marfan syndrome is one of the most common inherited disorders of connective tissue.
It is an autosomal dominant condition occurring once in every 10, to 20, individuals. There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems. Marfan syndrome is caused by mutations in the FBN1 gene.
FBN1 mutations are associated with a broad continuum of physical features ranging from isolated features of Marfan syndrome to a severe and rapidly progressive form in newborns. The most common symptom of Marfan syndrome is myopia nearsightedness from the increased curve of the retina due to connective tissue changes in the globe of the eye.
About 60 percent of individuals who have Marfan syndrome have lens displacement from the center of the pupil ectopia lentis. Individuals who have Marfan syndrome also have an increased risk for retinal detachment, glaucoma and early cataract formation. Other common symptoms of Marfan syndrome involve the skeleton and connective tissue systems. These include bone overgrowth and loose joints joint laxity. Individuals who have Marfan syndrome have long thin arms and legs dolichostenomelia.
Overgrowth of the ribs can cause the chest bone sternum to bend inward pectus excavatum or funnel chest or push outward pectus carinatum or pigeon breast. Curvature of the spine scoliosis is another common skeletal symptom that can be mild or severe and progressively worsen with age. Scoliosis shortens the trunk also contributes to the arms and legs appearing too long.
Find out more about genetic inheritance Diagnosing Marfan syndrome Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person. But it's an expensive process, as the gene can mutate in more than 3, different ways. Find out more about how Marfan syndrome is diagnosed Treating Marfan syndrome There's no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.
You'll be closely monitored and any complications will be treated if they occur. This helps scientists look for better ways to prevent and treat this condition.
You can opt out of the register at any time. Find out more about the register How common is Marfan syndrome? Men and women are affected equally. It is especially important for the musculoskeletal system. It also provides support for other body systems as well, including the eyes and the heart. The gene for Marfan syndrome is called fibrillin This gene is localized to chromosome 15 on the long arm q at 15q Common findings in individuals with Marfan syndrome include those related to connective tissue disorders.
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