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Sotos Syndrome

Sotos syndrome is an uncommon condition that affects approximately one in fourteen thousand of the population. It is one of several overgrowth syndromes and is also known as Cerebral Gigantism due to the large head circumference that is associated with the condition.

SarahThe following features are typically used to give an initial, clinical diagnosis:

  • Characteristic facial appearance
  • Learning disability
  • Childhood overgrowth
  • Increased head circumference

In approximately ninety percent of cases, the clinical diagnosis is confirmed using a genetic test to detect an abnormality on the NSD1 gene. Some individuals may be diagnosed at birth but many others do not receive a diagnosis until well into childhood.

Medical problems that can affect children with Sotos syndrome include

  • Congential heart and kidney defects
  • Epilepsy
  • Scoliosis (curvature of the spine)
  • Persistent infections of the urinary and respiratory tracts

Sotos Syndrome is an autosomal dominant condition which means that if either one of the parents has Sotos, there is a fifty percent chance that each of their children will inherit the condition. The chance of a couple having a second child with Sotos syndrome is the same as for any other couple (approximately one in fourteen thousand) provided they do not have the syndrome themselves.

Tall Stature

Children with tall stature, i.e. above the 99.6th centile, are usually so because of genetic reasons - they simply have tall parents! This is referred to as constitutional tall stature. However, tall stature may also be associated with various paediatric syndromes that require specialist assessment. Two of these conditions are Marfan syndrome and Sotos syndrome.

Constitutional tall stature

JacobTall stature in childhood usually presents less initial concern than short stature because, at least in early childhood, being tall can be advantageous. However, excessive tall stature can cause problems, particularly at school. It may be difficult to remember that a five-year old child who has the stature of an eight-year-old only has the educational and emotional development of a five-year old. Their size can seem inappropriate for their classroom peers and so very tall children may be labelled as clumsy or aggressive.

Other treatments that reduce growth hormone secretion are being evaluated through clinical trials.

If extreme tall stature is associated with psychological or behavioural difficulties then treatment can be offered. The older treatment option of sex steroids (oestrogen in girls and testosterone in boys) is not as effective as previously believed in slowing growth and there may be side effects. Theoretically, sex steroids rapidly fuse the growing ends of the bones and so stop growth prematurely. However, they also induce a growth spurt so on balance the outcome may be disappointing.

 

Typical growth chart for Sotos Syndrome

Chart for Sotos Syndrome

Further Reading

Sotos Syndrome - family information

Sotos Syndrome - parents guide

Sotos Theory of Mind

Smiling kid