Definition:
Marfan syndrome is a connective tissue disorder affecting many structures like skeleton, lungs, eyes, blood vessels and heart since connective tissue is found in all parts of the body. It is an inheritable condition in an autosomal dominant genetic pattern.
Diagnosis:
The presence of long limbs, dislocated lenses, and dilated aortic root is enough to suggest diagnosis of Marfan syndrome.
Treatment:
There is no specific treatment for Marfan syndrome as a disease.
Symptoms and Signs:
Marfan syndrome is a connective tissue disorder and since connective tissue is found in all parts of the body, there are a multitude of clinical features associated with the condition.
* Skeletal abnormalities
1. Above average height
2. Long slender limbs with long slender fingers and toes
3. Disproportionately long arms with thin and weak wrists
4. Abnormal curvature of the spine (scoliosis)
5. Abnormal indentation of the sternum (pectus excavatum)
6. Abnormal protrusion of the sternum ( pectus carinatum)
7. High palate and small jaws
8. Malocclusions
9. Flat feet
10. Stooped shoulders
11. Abnormal joint flexibility
* Heart abnormalities and related symptoms
1. Unjustifiable fatigue
2. Heart palpitations
3. Racing heartbeats
4. Pain in the left chest, shoulder, back, or arm
5. Cold arms, hand or feet due to loss of blood circulation
6. Heart murmur or symptoms of angina
7. Dilated aorta or aortic aneurysm
* Eye anomalies
1. Nearsightedness (myopia) and astigmatism
2. Dislocation of the crystalline lens in one or both eyes
* Signs and symptoms related to the nervous system
1. Leg pain, numbness or weakness
2. Radiating abdominal pain
* Skin
1. Unexplainable stretch marks
* Problems related to lung function
2. Shortness of breath
3. Sleep apnea
4. Cyanosis
Causes:
This medical condition is caused by mutations in the FBN1 gene on chromosome 15.
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