Marfan Syndrome

These Legs & Hands Don’t Measure Up!

These Fingers Can be Bent on Either Side to Crack Knuckles

Soon after a child is born, he/she is critically studied by people around, especially grandparents and other elders in the family, and verdicts are lashed out once a while regarding the baby’s features, resemblances and so on. Like other verdicts, these too are mostly one-sided with comments and compliments overpouring from the dad’s side and the mom is left to experience all these amidst her tiredness and the exhaustion of labor. Often we do hear comments like, "Bachcha sirf papa jaisa dikhta hai" or “the baby’s fingers are longer than my son’s.” All these bring a smile on the person’s face while uttering these words but a big snob on someone else’s faces.
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Who is not impressed by a newborn’s slender hands and legs that are long? People flock around chubby babies, overpour their affection onto them and kiss them until the baby’s cheeks turn red. Rarely, these slender hands and legs may indicate a serious disorder in children.

Marfan Syndrome
A disorder affecting connective tissues, Marfan syndrome is classified under rare diseases and affects 1 in 5000 or 10000 people. Connective tissues connect our body’s cells, tissues and organs together, keeps our body flexible and helps the body grow properly. Such important tissues are composed of proteins and one protein named fibrillin-1 plays a crucial role in setting the disease. Here, the gene that supplies the body with instructions for making this protein is mutated or defective and hence, another protein called transforming growth beta factor (TGF-β) increases in proportion. This TGF-β protein disrupts the normal functioning of the connective tissues thereby resulting in disproportionately formed body features and the resulting medical problems accompanying it.

In 75% cases, the child acquires the syndrome from one parent and there is a 50% chance that the child of a parent with Marfan syndrome will inherit the syndrome.

Head or Tail there is a Tale
While the disorder primarily affects the heart, bones, joints and eyes the syndrome can occur in any part of the body. There is even the possibility for an aortic enlargement. Lungs, skin and nervous system are also affected in some people.

Almost 75% of people with Marfan syndrome suffer from the disease due to a genetic mutation. There is a 50% chance that the genetic mutation is inherited by the child of an individual suffering from Marfan syndrome.

Symptoms
While some individuals have the symptoms of the syndrome since birth others express it anytime in their life. Certain symptoms occur as the person grows old. Common symptoms include:

• Long arms, legs and fingers
• Crowded teeth
• Flexible joints
• Flat feet
• Tall and thin body
• Stretch marks that don’t relate to weight loss or gain
• Sunken chest
  
  

Other symptoms that are hard to detect include:

• Lung problems
• Heart problems mainly relating to the aorta
• Eye sight problems involving shortsightedness, dislocated lens, detached retina and chances of glaucoma and cataract right from an early age. Cataract and glaucoma can affect eyesight if not treated at the right time. For more information on it, please visit the website www.firsteatright.com.
  
  

Every person has the chance of bearing any of these symptoms and the expression of the disease is varied affecting each person differently.

Diagnosis & Treatment
It’s pretty tough to diagnose Marfan syndrome as the signs of the disease does not remain constant universally but varies from person to person. Genetic testing is the best way to diagnose the disease but its highly expensive preventing all citizens from making use of the available sources. When the aorta has been diagnosed with a defect it can mean a shorter life expectancy. If you notice any symptoms indicative of the disease or feel that your child’s hands and legs seem abnormal, please visit a physician immediately to get it checked. 

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