Click Image to Enlarge. Marfan syndrome occurs in one of 5, live births. It is a connective tissue disorder associated with autosomal dominant inheritance. Connective tissue is abundant in the body and is important as a supporting structure. It is especially important for the musculoskeletal system. It also provides support for other body systems as well, including the eyes and the heart.
Menu Search Home Diseases Marfan syndrome. You can help advance rare disease research! This site is in-development and may not reflect the final version. Preview the new GARD site. Other Names:. Contractural arachnodactyly. Congenital and Genetic Diseases ; Connective tissue diseases ; Eye diseases.
Summary Summary. Symptoms Symptoms. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes arachnodactyly , and have an arm span that exceeds body height. Other common features of Marfan syndrome include: Unusually flexible joints Long and narrow face Highly arched roof of the mouth Crowded teeth Scoliosis Sunken chest pectus excavatum or a protruding chest pectus carinatum Eye issues: About half of people with Marfan syndrome have a dislocated lens ectopia lentis in one or both eyes, and most 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 than in people without Marfan syndrome.
Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats palpitations.
If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta.
The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall an aneurysm. The increased size 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. Showing of 88 View All. Long slender fingers.
Spider fingers. Bulging of wall of large artery located above heart. Chronic extreme exhaustion. Pigeon chest. Flat feet. Flat foot. Thin build. Spontaneous collapsed lung. Stretch marks. Crowded teeth. Dental overcrowding. Overcrowding of teeth. Narrow, high-arched roof of mouth. Narrow, highly arched roof of mouth. Increased front to back length of eyeball.
Flexible joints. Increased mobility of joints. Dislocated lens. Partially dislocated lens. Close sighted. Near sighted. Near sightedness. Decreased breadth of face. Decreased width of face. Funnel chest. Difficulty sleeping. Trouble sleeping. Impaired vision. Loss of eyesight. Poor vision. Attention deficit. Attention deficit disorder. Attention deficit-hyperactivity disorder. Attention deficits. Wasting syndrome. Cleft roof of mouth. Cardiac failure. Cardiac failures.
Heart failure. Long, narrow head. Tall and narrow skull. Downward slanting of the opening between the eyelids.
Coughing up blood. Underdeveloped iris. Hunched back. Round back. Decreased elbow mobility. Limited elbow mobility. Restricted elbow motion. Little lower jaw. Small jaw. Small lower jaw. Low or weak muscle tone. Muscle ache. Muscle pain. Absence of overlap of upper and lower teeth. Open bite between upper and lower teeth. Detached retina. Receding chin.
Receding lower jaw. Weak chin. Weak jaw. Muscle degeneration. Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin Fibrillin-1 attaches binds to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils bind to molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body.
A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, microfibrils cannot bind to growth factors, so excess growth factors are available and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues in Marfan syndrome.
This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene.
These cases occur in people with no history of the disorder in their family. Genetics Home Reference has merged with MedlinePlus. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. Marfan syndrome. From Genetics Home Reference. Description Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Frequency The incidence of Marfan syndrome is approximately 1 in 5, worldwide.
Learn more about the gene associated with Marfan syndrome FBN1. Inheritance This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
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