Marfan Syndrome - Medtick
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Marfan Syndrome

What is it?

An autosomal disorder of the body’s connective tissues where one can’t produce the right proteins an important building block of connective tissue (connective tissue is the tough, fibrous, elastic tissue that connects one part of the body with another, it is a major part of tendons, ligaments, bones, cartilage and the walls of large blood vessels) and affects all parts of the body including ones eyes, joints and heart.

  • These tissues are important as they hold and support  the internal organs and ones body structure causing the body to stretch when put under stress and the bones to grow longer than they should.

Cause

  • Unknown  (25% of cases)
  • Family history (one of the parent carry the mutated ‘changed’ gene) – (75%)
  • Gene defect leads to abnormal production of a protein called fibrillin (affects the FBN1 gene on chromosome 15, a second gene on chromosome 5)
  • Family history-autosomal recessive disorder (Both parents who are carriers of  the recessive genes responsible and can cause a 25% chance of their sibling getting this condition)
  • If both parents are carriers, a child has a 25 percent chance of inheriting two recessive genes (and getting the condition), a 50 percent chance of getting one dominant and one recessive gene (and becoming a carrier), and a 25 percent chance of getting two dominant genes (and remaining unaffected).

Symptoms

(Symptoms can vary)

  • Taller than average?
  • Long arms and/or fingers and/or long legs and/or toes where the joints may be loose and over flexible?
  • Headache which is on and off or a constant headache longer than 24 hours?
  • Blurred vision and/or loss of vision?
  • Patches or spots on eyelids or around eyes?
  • Deep-set eyes?
  • Abnormal downward slant to the eyes?
  • Small lower jaw (small jaw further back than normal) and/or high arched palate (roof of the mouth)?
  • Crowded teeth?
  • Breastbone (sternum) that either protrudes outwards or indents inwards?
  • Heart palpitations and/or irregular heartbeat?
  • Short of breath or breathing difficulties?
  • Stretch marks on hips, shoulders and/or back?
  • Brittle, soft weak bones, dental problems and/or prone to fractures or curved/bone legs and/or curved spine?
  • Numbness and/or tingling sensation  in legs?
  • Pins and needles in arms?

Complications /Information to beware of/General tips:

Medical Emergency Condition

And/or do not wait, call for an ambulance if have or develop:

This condition can lead to:

  • Scoliosis
  • Hernia
  • Low muscle tone and weakness
  • Spondylolisthesis
  • Dural ectasia (a condition where the membrane (protective wall) of the brain and spine expands causing headaches, backache and numbness in legs
  • Eyes:
    • Myopia
    • Glaucoma
    • Cataracts
    • Retinal detachment  (where the light-sensitive layer of cells at the back of your eye (retina) begins to pull away from the blood vessels that supply it with oxygen and nutrients)
    • Strabismus
    • Ectopic lens is a common manifestation of the connective tissue disorder Marfan syndrome as well as the metabolic disorder homocystinuria.
  • Heart condition:
    • This condition can cause weakness in aorta (the main blood vessel that supply the heart), if this blood vessel expands it can cause an aneurysm
    • Mitral valve diseases
  • Flat feet

Pregnancy

  • If one is pregnant or thinking of becoming pregnant and has parents who a history of Marfan syndrome, Please talk to your medical doctor about the heart risks

Driving Authority

This condition may show similar symptoms to:

These conditions are very difficult to diagnose, a specialist opinion is required.

OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.

Detailed Information

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