Marfan Syndrome Basics of marfan syndrome Marfan syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. Connective tissue is the most abundant tissue in the body. It supports and protects various other tissues is a vital component of all organs in the body and provides strength and elasticity to blood vessels. Therefore a disorder of connective tissue can cause a variety of abnormal conditions.
Synonyms of Marfan Syndrome MFS General Discussion Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength.
Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome. The heart and blood vessels cardiovascularskeletal, and eye ocular systems are most often affected.
Major symptoms include overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of the spine scoliosisindentation or protrusion of the chest wall pectus deformitydislocation of the lenses of the eyes ectopia lentisnearsightedness myopiawidening aneurysm and tear dissection of the main artery that carries blood away from the heart aortafloppiness of the mitral valve mitral valve prolapse and backward flow of blood through the aortic and mitral valves aortic and mitral regurgitation.
The specific symptoms and the severity of Marfan syndrome vary greatly from person to person. Marfan syndrome is inherited as an autosomal dominant trait, meaning that only one abnormal copy of the Marfan gene inherited from one parent is sufficient to have the condition.
Defects or disruptions mutations of the fibrillin-1 FBN1 gene have been linked to Marfan syndrome and related disorders. Some individuals will develop only a few mild or isolated symptoms; others will develop more serious complications.
In most cases, Marfan syndrome progresses as individuals grow older. In some infants, Marfan syndrome may cause severe, rapidly progressive complications during infancy, often quickly affecting multiple organ systems early in life.
Marfan syndrome can potentially affect many systems of the body including the heart, blood vessels, skeleton, eyes, lungs, and skin. Individuals with Marfan syndrome often develop distinct physical findings especially an abnormally thin physique and disproportionately long, slender arms and legs dolichostenomelia due to overgrowth of the long bones.
In addition, affected individuals usually have abnormally long, slender fingers arachnodactyly. People with Marfan syndrome are usually very tall and thin in comparison to unaffected family members but not necessarily in comparison to the general population.
They can lack muscle tone hypotonia and have little fat under the skin subcutaneous fat.
A variety of skeletal malformations affect individuals with Marfan syndrome including overgrowth of the ribs, which can push the breastbone sternum inward resulting in a sunken chest pectus excavatum or outward resulting in a protruding chest pectus carinatum.
In some cases, the joints may be unaffected or may become tight and stiff contractures. Some individuals have an abnormally deep hip socket acetabulum with deep insertion of the head of the long bone femur of the leg protrusio acetabulae and signs of erosion.
Many individuals with Marfan syndrome develop spinal abnormalities such as progressive curving of the spine scoliosis that may be mild or severe.
Scoliosis may be associated with back pain in some affected individuals. In children, skeletal abnormalities may progress during growth. Individuals with Marfan syndrome may have several distinct facial features including a long, narrow skull dolichocephalydeep-set eyes enophthalmosan abnormally small jaw micrognathia that may be recessed farther back than normal retrognathiaabnormally flat cheek bones malar hypoplasiaand an abnormal downward slant to the eyes.
Affected individuals may also exhibit a highly-arched roof of the mouth palateteeth that are crowded together and upper and lower teeth that do not meet align properly when biting malocclusion.
Individuals with Marfan syndrome may have significant cardiovascular problems such as a common heart defect known as mitral valve prolapse. The mitral valve is located between the left upper and left lower chambers left atrium and left ventricle, respectively of the heart.
Mitral valve prolapse occurs when one or both of the flaps cusps of the mitral valve bulge or collapse backward prolapse into the left upper chamber atrium of the heart during ventricular contraction. In some cases, this may allow leakage or the backward flow of blood from the left lower chamber of the heart ventricle back into the left atrium mitral regurgitation.
Often no associated symptoms are apparent asymptomatic. However, in other cases, mitral valve prolapse can result in chest pain, abnormal heart rhythms arrhythmiasor evidence of inadequate heart function congestive heart failure, most often in association with prolonged and severe mitral regurgitation.
Additional cardiovascular findings include widening aneurysm and degeneration of the main artery that carries blood away from the heart aortatearing dissection of the aorta so that blood seeps between the inner and outer layers of the aortic wall, and backward flow of blood from the aorta into the lower left chamber ventricle of the heart aortic regurgitation.
Some individuals may develop widening of the main artery of the lungs pulmonary artery dilatation. If left untreated, the various heart abnormalities associated with Marfan syndrome can cause life-threatening complications such as rupture of the aorta and congestive heart failure.
Individuals with Marfan syndrome develop abnormalities of the eyes, especially nearsightedness myopiawhich may develop early in childhood and become progressively worse.
Approximately 60 percent of individuals develop displacement of the lenses of the eyes ectopia lentis away from the center of the eyeball.
Ectopia lentis may occur at birth or later in life and may remain stable or become progressively worse. Additional symptoms affecting the eyes include an abnormally flat cornea the clear portion of the eyes through which light passesunderdevelopment of the colored portion of the eye hypoplastic irisand detachment of the nerve-rich membrane retina lining the back of the eyes.
Some individuals with Marfan syndrome are at risk for the early development of cataracts or glaucoma. If left untreated, eye abnormalities can result in vision loss. In addition to the more common symptoms discussed above, individuals with Marfan syndrome may develop air pockets near the top of the lungs apical pulmonary blebswhich can predispose individuals to a leak of air within the chest cavity and lung collapse that occurs for no readily apparent reason spontaneous pneumothorax.
In some cases, pneumothorax can recur. Some affected individuals may develop widening or bulging of the sac dura that surrounds the spinal cord dural ectasia. This condition usually does not cause symptoms asymptomaticbut has been associated with lower back pain and can cause pinching of a nerve leading to abnormal sensations or muscle performance in the legs.Marfan syndrome (MFS) is a genetic disorder of the connective tissue.
The degree to which people are affected varies. People with Marfan tend to be tall and thin, with long arms, legs, fingers and toes.
They also typically have flexible joints and scoliosis. Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder that affects about one in people, or million people worldwide.
It causes improper connections between arteries and veins. which causes a combined syndrome of juvenile polyposis (multiple polyps in the intestine) and HHT.
It's rare — but not impossible — to. Prader-Willi California Foundation will host its Annual State Conference to educate families raising a child or adult diagnosed with Prader-Willi syndrome, a rare and extraordinarily complex.
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It is not intended to be and should not be interpreted as medical advice or a diagnosis of. Marfan syndrome, also called arachnodactyly (“spider fingers”), is the most common of the hereditary disorders of connective tissue, having an estimated prevalence of about 15 cases per 1,, population.
Disease definition Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).