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What research has been done on Sotos Syndrome?

Updated at: Nov 29, 2014
Other Diseases
Written by: Meenakshi ChaudharyPublished at: Jul 27, 2011
What research has been done on Sotos Syndrome?

Sotos syndrome is a rare genetic disorder which occur due to the mutation of NSD1 gene on chromosome 5.A wide range of studies have been conducted by NINDS

Sotos syndrome is a rare genetic disorder which occur due to the mutation of NSD1 gene on chromosome 5. It is mainly characterized by the excessive growth (physical) during the first few years of life. Affected children tend to be taller, heavier with larger heads than the normal.

sotos syndrome

Symptoms

The symptoms of the disorder include

  • Disproportionately large and long head
  • Protrusive forehead
  • pointed chin
  • Large hands and feet
  • Hypertelorism
  • down slanting eyes
  • mild mental retardation
  • hypotonia
  • speech impairments

new born with bigger head

Treatment

There is no standard treatment for this disorder but it is symptomatic.

Prognosis

Since it’s not a life threatening disorder the affected people can have normal life expectancy. Most of the time the initial abnormalities get resolved as the growth rate becomes normal in the later life.

What research is being done on Sotos Syndrome

A wide range of studies have been conducted by NINDS ( national institute of neurological disorders and stroke) to identify and to know more about the genes responsible for delaying the normal brain development.


Image Courtesy : getty

Read more article on Understand Sotos Syndrome

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