MARFAN SYNDROME
Source: hollywoodreporter.com
The marfan syndrome is an autosomal dominant disorder inherited from the parents or as a result of new mutation that affects the connective tissues.
The connective tissues can be seen as a glue that holds all the body's cells organs and tissues together and it is essential in helping the body grow and develop properly.
Most of the time it's inherited from the parents about 75% of time and 25% of time it's a new mutation, this mutation is the mutation to gene that makes fibrillin(fibrilin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue) which results in abnormal connective tissues.
It was named after a French Pediatrician called Antoine Marfan in 1896
Everyone's experience with marfan syndrome is always slightly different, no one has the whole feature of marfan syndrome people have different combinations of them
They include:
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1.) Tall and thin
2.) Long arms long legs and fingers
3.) Curved spine
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Source: mayoclinic.org
4.) Chest sinks out or sinks in
5.) Flexible joints
6.) Flat feet
7.) Crowded teeth
8.) Stretch marks on the skin that are not related to weight gain or loss
9.) Sudden lung collapse
10.) Eye problem
1 in 5000 people worldwide have the marfan syndrome, over 54000 people in the US, about 60% have dislocated lens of the eyes.
References:
-Dietz HC. Marfan Syndrome. 2001 Apr 18 [Updated 2014 Jun 12]. In: Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
-en.wikipedia.org
-marfan.org
Thanks for reading
Clinically, another disease, inherited, has almost similar features of Marfan's syndrome . It is known as homocystinuria . But there are dissimilarities too.
inheritance:
Marfan's - autosomal dominant
homocystinuria - autosomal recessive
lens dislocation:
Marfan's - upward lens dislocation
homocystinuria - downward lens dislocation
aortic incompetence:
Marfan's - aortic incompetence may occur
homocystinuria - heart rarely affected
intellectual development:
Marfan's - normal
homocystinuria - mental retardation
other principle features:
Marfan's - flat feet, herniae, scoliosis; there is a 50% reduction in life expectancy
homocystinuria - osteoporosis, recurrent thromboembolism; characteristic laboratory features - plasma methionine and homocystine levels are elevated, homocystine is excreted in the urine, plasma cystine levels are reduced, positive urine cyanide-nitroprusside test; response to treatment with pyridoxine
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Good informative post, thanks for shearing.