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Nome del dominio - marfan.it

Titolo del sito - Associazione Sindrome di Marfan

Vai al sito web - Associazione Sindrome di Marfan

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Posizione Paese - Austria

Città/Paese - Arezzo

Fornitore - Aruba S.p.A.

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Brief facts about marfan:

Marfan syndrome is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable. MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria, family history and genetic testing. There is no known cure for MFS. Many of those with the disorder have a normal life expectancy with proper treatment.

Nail-Patella syndrome - Nail–patella syndrome is a genetic disorder that results in small, poorly developed nails and kneecaps, but can also affect many other areas of the body, such as the elbows, chest, and hips.

Mitral valve prolapse - Mitral valve prolapse is a valvular heart disease characterized by the displacement of an abnormally thickened mitral valve leaflet into the left atrium during systole. It is the primary form of myxomatous degeneration of the valve.

Uner Tan syndrome - Uner Tan syndrome is a syndrome that was discovered by the Turkish evolutionary biologist Üner Tan. People affected by UTS walk with a quadrupedal locomotion and often have severe learning disabilities. Tan postulated that this is an example of "reverse evolution".

Collagen disease

Systemic connective tissue disorders

Cytoskeletal defects

Disorders of fascia

Abnormalities of dermal fibrous and elastic tissue

Autosomal dominant disorders