Marfan Syndrome

WHAT ARE THE SYMPTOMS OF MARFAN SYNDROME?

Marfan syndrome affects many body systems, and many of the symptoms become more pronounced with age.

Skeletal System:

Tall and slender
Loose or hyperextensive joints
Arm span is greater than height
Legs, arms, fingers, and toes may be abnormally long in comparison to the rest of the body
Indented or protruded sternum
Curvature of the spine (scoliosis, kyphosis)
Flat or clawed feet, hammer toe

This child has an indentation of the sternum, a symptom that must be treated with surgury or an orthopedic brace.

http://medicalimages.allrefer.com/large/pectus-excavatum.jpg

Marfan Syndrome can be detected by tests that indicated long fingers and very thin wrists.

http://www.nature.com/ejhg/journal/v15/n7/images/5201851f3.jpg

Vision:

Dislocation of one or both lenses of the eye (lense may be higher/lower than normal or shifted to one side)
Retinal detachment
Near-sightedness
Glaucoma of the eye
Cataracts

Nervous System:

Dural ectasia--when the connective tissue around the spinal cord swells
Pain or numbness

Skin:

Unexplained stretch marks
Hernias

Respiratory System:

Sacs in the lungs maybe be stretched or swollen, increasing risk of lung collapse
Shortness of breath
Sleep apnea

Circulatory System:

Wall of aorta may be weakened or stretched, causing aortic dilation
Weakened aorta may allow blood to leak back into the heart, leading to aortic regurgitation
Aortic dilation increases risk of rupture or tear, which may result in serious heart problems or sudden death
Heart valves can leak, causing heart murmurs
Infection of the endothelium, which lines the heart

This image on the right shows the visual symptoms of cataracts (top) and dislocation of the lenses (bottom)

http://www.medstudents.com.br/original/revisao/marfan/marfan2.jpg

The image on the left shows aortic dilation, one of the more severe symptoms of Marfan Syndrome

http://www.scielo.br/img/fbpe/abc/v77n5/a09fig02.gif

http://www.youtube.com/watch?v=NZXRCo10db0