Marfan Syndrome
One of the most common inherited disorders that affect connective tissues (the fibers that support and anchor the organs and other structures in the body)
Men and women are affected equally with this genetic disorder.
Occurs once in every 10,000 to 20,000 people
Individuals who have Marfan syndrome are advised to avoid contact and competitive sports and isometric exercise like weight lifting and other static forms of exercise. They can participate in swimming.
Marfan syndrome is caused by mutations in the FBN1 gene.
Treatment: treated by a multidisciplinary medical team that includes a geneticist, cardiologist, ophthalmologist, orthopedist and cardiothoracic surgeon.
Causes: inherited from parents,
Symptoms
Parents can be tested for the mutated gene in order to se chances for their children.
Diagnosis:
Long arms, legs and fingers
Tall and thin body type
Curved spine
Chest sinks in or sticks out
Flexible joints
Flat feet
Crowded teeth
Stretch marks on the skin that are not related to weight gain or loss
Cardiovascular system
Eye problems
Pregnancy related problems
Inherited from parents
Only one parent needs to carry the mutated gene
Defective gene creates abnormal protein called fibrillin
Based on family history, and presence of symptoms.
Dilatation or dissection of the aorta at the level of the sinuses of Valsava
Ectopia lentis (dislocated lens of the eye).
Lumbosacral dural ectasia determined by CT scan or magnetic resonance imaging (MRI).
Four of the eight typical skeletal features