Marfan's Syndrome
Marfan's Syndrome (MFS) is a genetic disorder that impacts connective tissue. Marfan's is a rare syndrome that impacts 1 in 5000 people. It is mostly an inherited disorder (autosomal dominant), but spontaneous mutations can occur.
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For MFS the protein in connective tissue that is affected is the fibrillin-1. this causes an increase in the protein called transforming growth protein beta.
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Some of the signs of Marfan's can include:
- Long arms, legs and fingers
- Tall and thin body
- Scoliosis (curved spine)
- Pectus Excavatum (sunken chest)
- Hypermobile joints
- Flat Feet
- Crowded Teeth
- Stretch Marks - not related to weight changes.
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Marfan's can affect the heart, eyes, blood vessels and skeleton. There are some cardiovascular risks associated and these need to be checked with a cardiologist.
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Marfan's has some very similar issues to EDS as they are both connective tissue disorders, but this is caused by defects in collagen. They are both considered heritable connective tissue disorders and may be considered a differential diagnosis when investigating EDS. Some people claim to have both disorders.
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For more information check out The Marfan Foundation.
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References: Differences in Manifestations of Marfan Syndrome, Ehlers-Danlos Syndrome, and Loeys-Dietz Syndrome.
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Marfan Awareness Month is February
Marfan Awareness Ribbon - Red