Marfan Syndrome Pictures

What is Marfan Syndrome ?

Marfan syndrome is a disorder of the connective tissue. The main function of the connective tissue is that it holds the body together and thus aids in the development growth of the body. Marfan syndrome is heritable, that is, it can be passed on from parents to a child.

Marfan Syndrome Symptoms

The connective tissue is present throughout the body and hence its degeneration due to Marfan syndrome affects all organs. Some of the organs affected and the symptoms are listed below:

• Nervous system: In older people with Marfan syndrome, the dura in the brain and spinal cord may weaken and stretch. This may result in wear and tear of the bone around the spinal cord causing intense pain in the abdomen, weakness of the legs or a sensation of numbness. One may also have learning disabilities.
• Skeleton: Individuals are very tall and thin with loose joints. The hands, legs, fingers and toes may be larger as compared to the rest of the body. The feet are flat, the chest may either protrude out or curve in and the face is often long and narrow. The mouth palate may be highly arched along with crowded teeth.
• Heart and the blood vessels: There may be aortic dilatation, wherein the walls of the aorta are weakened and stretched. This causes several heart problems like tearing of aorta, fatigue, palpitations, shortness of breath and even fatality.
• Eyes: There may be dislocation of the lenses in the eyes and they may be tilted to one side or higher or lower than normal eyes. Hence, there are several eye disorders like glaucoma, cataracts, myopia, etc.
• Lungs: There is a greater risk of the air sacs in the lungs to swell or stretch causing the lungs to collapse. In addition there may be sleep-associated breathing issues like sleep apnea, snoring, etc.
• Skin: The skin may be wrinkled and bear stretch marks even at a young age.

Marfan Syndrome Pictures

Picture 1 :  Elongated finger and arm bones in Marfan syndrome (photo)

Image source : drmarzuki

Picture 2 : Difference between normal chest and Marfan syndrome chest

Image source : drmarzuki

 

Picture 3 : Aneurysm in Marfan Syndrome

Image source : hughston.com

 

Picture 4 :  Person with the Marfan syndrome is tall and thin and has an arm span that exceeds his/her height.

Image source : hughston.com

 

Picture 5 : Inheritance of Marfan syndrome

Image source :

Marfan Syndrome Causes

• Marfan syndrome is cause by a mutation or a defect in gene that is responsible for a protein called fibrillin-1 which is an essential part of the connective tissue.
• One is born with Marfan syndrome, but its detection takes time.
• The defective gene can be inherited and hence Marfan syndrome has a genetic basis.

Marfan Syndrome Treatment

• Marfan syndrome cannot be cured, but its symptoms may be alleviated with medications and surgery if required.
• An individual may have to take blood thinning drugs like warfarin for a lifetime to prevent any cardiovascular problems.
• Mild aerobic exercise is advised for skeletal and cardiovascular health. Counselling may be required for emotional and psychological support.

Support Groups for Marfan Syndrome

• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• National Human Genome Research Institute (NHGRI)
• National Marfan Foundation
• American Heart Association