User:Mr. Ibrahem/Marfan syndrome
Medical condition / From Wikipedia, the free encyclopedia
Marfan syndrome (MFS) is a genetic disorder that affects the connective tissue.[2] Those with the condition tend to be tall and thin, with long arms, legs, fingers and toes.[2] They also typically have flexible joints and scoliosis.[2] The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.[2][6] The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected.[2] The severity of the symptoms is variable.[2]
Marfan syndrome | |
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Other names | Marfan's syndrome |
File:Marfan wrist.png | |
A positive wrist sign in a person with Marfan syndrome (the thumb and little finger overlap when grasping the wrist of the opposite hand)[1] | |
Specialty | Medical genetics |
Symptoms | Tall, thin build; long arms, legs and fingers; flexible fingers and toes[2] |
Complications | Scoliosis, mitral valve prolapse, aortic aneurysm[2] |
Duration | Long term[2] |
Causes | Genetic (autosomal dominant)[2] |
Diagnostic method | Molecular testing, Ghent criteria[3] |
Differential diagnosis | Loeys–Dietz syndrome, Congenital contractural arachnodactyly, Ehlers–Danlos syndrome, Homocystinuria, MASS phenotype, Stickler syndrome[3] |
Medication | Beta blockers, calcium channel blockers, ACE inhibitors[4][5] |
Prognosis | Often normal life expectancy[2] |
Frequency | 1 in 5,000–10,000[4] |
MFS is caused by a mutation in FBN1, one of the genes that makes fibrillin, which results in abnormal connective tissue.[2] It is an autosomal dominant disorder.[2] About 75% of the time, the condition is inherited from a parent with the condition, while 25% of the time it is a new mutation.[2] Diagnosis is by based on molecular testing or the Ghent criteria.[3][7]
There is no known cure for MFS.[2] Many of those with the disorder have a normal life expectancy with proper treatment.[2] Management often includes the use of beta blockers such as propranolol or atenolol or, if they are not tolerated, calcium channel blockers or ACE inhibitors.[4][5] Surgery may be required to repair the aorta or replace a heart valve.[5] Avoiding strenuous exercise is recommended.[4]
About 1 in 5,000 to 1 in 10,000 people have MFS.[4][8] It occurs equally in males and females.[4] Rates of the condition are similar between races and in different regions of the world.[8] It is named after French pediatrician Antoine Marfan, who first described it in 1896.[9][10]