The Giant Issue of Sotos Syndrome

Bernard by Bernard Wilson

Published Wed, Jan 18th 2017, 15:59 | Health


Not every human being that is born on the planet is perfect. Some of the people are born with some kind of abnormalities be it in the form of mental or physical. It is difficult to cope with both the abnormalities as it has a very deep impact on the individual’s life. The people who are affected by such kind of disorder only know the brunt of that problem and the people who take care of them. A Deformity, be it in any form can play a major hindrance in all spheres of their life and sometimes it leads to mental and emotional disturbance for the affected person. One such physical deformity that can really throw the life of an individual out of order mainly of a child is Cerebral Gigantism or Sotos syndrome.

This is a very unusual genetic disorder which is illustrious for the extraordinary physical growth in the children in the first two to three years of their life. Children who are born with this syndrome are extraordinarily large at the time of their birth, taller and have more weight than the usual children and tend to have larger heads than the rest of the children.

The first sign of this disorder is that the new born child has a very big head which is also called as macrocephaly and extraordinarily big hands and feet. This condition is called as hypertelorism. Such people may also suffer from clumsiness. Though these cases are very rare but in most of the cases genetic links are found out. Some other problems also accompany this syndrome which includes subtle mental retardation, autistic behavior, motor skills delays, cognitive disorder, muscle tone loss, and dysarthria.

The disorder of cerebral gigantism is characterized by overgrowth and advance bone age and the people who are affected by this problem become dysmorphic and tend to have a head which is huge in size and unusually long and narrow towards the chin. This appearance can be seen during the infancy period. The kids who are affected with this problem grow very rapidly and grow taller than other children and their siblings. But the moment they enter their adulthood their height is of their age norm.

The kids who suffer from the problem of cerebral gigantism also have to cope with other problems as well. They tend to have behavioral problems, which can include attentional issues; obsessive compulsive disorder etc. speech impairment is also seen with the people who suffer from this issue. The other troubles that are faced by the people with cerebral gigantism are scoliosis, seizures, cardiac or renal defects, visual or hearing impairments. This problem is mainly caused by the mutation of the NSD1 gene whose purpose is to give instruction for the production of a protein accountable for normal growth in an individual. The only relief that this is not a life threatening disorder and as the child grows sometimes the motor functions that are being lost due to the problem of cerebral gigantism returns to normal.  

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