Marfan syndrome

Marfan syndrome (MFS) be a multi-systemic genetic disorder wey dey affect de connective tissue. People plus de condition often be tall den thin, plus long arms, legs, fingers, den toes. Dem sanso typically get exceptionally flexible joints den abnormally curved spines. De most serious complications dey involve de heart den aorta, plus an increased risk of mitral valve prolapse den aortic aneurysm. De lungs, eyes, bones, den de covering of de spinal cord sanso be commonly affected. De severity of de symptoms be variable.

MFS be caused by a mutation insyd FBN1, one of de genes wey dey make fibrillin, wich dey result in abnormal connective tissue. E be an autosomal dominant disorder. Insyd about 75% of cases, e be inherited from a parent plus de condition, while insyd about 25% e be a new mutation. Diagnosis often be based on de Ghent criteria, family history den genetic testing (DNA analysis).

Der be no known cure for MFS. Chaw of those plus de disorder get a normal life expectancy plus proper treatment. Management often dey include de use of beta blockers such as propranolol anaa atenolol, calcium channel blockers, ACE inhibitors, den/anaa angiotensin receptor blockers ("ARBs"). Surgery fi be required to repair de aorta anaa replace a heart valve. Avoiding strenuous exercise be recommended for those plus de condition.

About 1 insyd 5,000 to 1 insyd 10,000 people get MFS. Rates of de condition be similar insyd different regions of de world. Dem name am after French pediatrician Antoine Marfan, wey first describe am insyd 1896.

 References 

 External links 

 Orphanet's disease page on Marfan syndrome

Category:Marfan syndrome
Category:Rare genetic syndromes
Category:Articles wey dey contain video clips
Category:Diseases dem name after discoverers
Category:Translated from MDWiki