Sotos Syndrome – What it is, Causes and Treatments

Sotos Syndrome – What it is, Causes and Treatments of this condition that many are unaware of. In addition , Sotos Syndrome  or “cerebral gigantism” is a genetic disease characterized by physical exaggerated growth during the first years of life.

In addition to affecting the physical part  , Sotos Syndrome  can cause a delay in the child’s development as well as mental deficiency, speech difficulties, among other problems. Children affected by Sotos Syndrome  tend to grow up quickly, at the moment there is no cure but symptomatic treatment is available . Patients with Sotos Syndrome can live normally because there is even the possibility of improvement in mental condition, speech and even a little motor coordination.

Causes of Sotos Syndrome: Sotos  Syndrome is a genetic disorder, or due to an abnormal NSD1 gene mutation on chromosome 5. This type of genetic alteration has been identified in approximately 80-90% of cases of Sotos Syndrome . In these cases, the often used Sotos Syndrome .

The essential function of NSD1 is to produce various proteins that control the activity of genes that are involved in normal growth, development and maturation.

In addition, recently, other disorders related to Sotos Syndrome have also been identified , specifically mutations in the NFX gene, located on chromosome 19, have been observed. In these cases, the term Sotos Syndrome .

Sotos Syndrome has a sporadic occurrence, mainly due to new genetic mutations, however, there have been cases where it is not an autosomal dominant form of inheritance.

Symptoms Of Sotos Syndrome: The symptoms of  Sotos Syndrome  have very defined physical characteristics:

  • Macrocephaly (large head).
  • With prominent forehead.
  • Elongated skull.
  • Elevated palatal arcade.
  • Ocular hypertelorism (eyes wide apart).
  • They are taller than normal.
  • Excessively large hands and feet.
  • Flaccidity and low muscle tone.
  • Teeth come out too fast (even at three months).

As for the possible symptoms that can make you suspect Sotos Syndrome are:

  • Development of scoliosis (abnormal curvature of the spine).
  • Motor problems due to hypotonia (low muscle development).
  • They often drool due to low muscle tone in the facial muscles.
  • Coordination problems .
  • Deficits in language and socialization that cause problems with expression and communication (they often squeal to show desires or emotions).

Other symptoms that may or may not be present in Sotos Syndrome  are:

People with Sotos Syndrome are prone to developing tumors.

Treatment of Sotos Syndrome:  In general, pediatric follow-up is important during the first years of life to allow detection and treatment of Sotos Syndrome  and clinical complications such as scoliosis and febrile seizures.

Educational psychologists who make appropriate programs with speech therapy and motor stimulation play an important role in the overall development of patients. Final height is difficult to predict, but growth tends to normalize after puberty.

Note:  Sotos Syndrome  is not a disease that puts the survival of the affected person at serious risk, generally the life expectancy for people with Sotos Syndrome  is not reduced compared to the general population.

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