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Sotos Syndrome
Monday, 21 July 2003
Wednesday, 13 July 2005
Cerebral Gigantism

What

Sotos syndrome is a rare genetic condition characterized by rapid height and head growth during the first few years of life. This disorder is also associated with certain facial features and developmental delay.

Who

Sotos syndrome occurs in all ethnic groups and equally in both males and females. The disorder occurs in about 1 in 14,000 live births.

Signs and Symptoms

There are several features that are seen among children with Sotos syndrome:

  1. During pregnancy, 15% of mothers commonly experience pre-eclampsia.
  2. Newborns often have a longer birth length, larger birth head size, and greater birth weight as the upper limits of normal. 
  3. In infancy, 65-70% of newborns develop jaundice, do not feed well, and have low muscle tone.
  4. 20% will have heart problems which can vary in severity.
  5. 20% can have kidney or genital abnormalities.
  6. 25% develop seizures at some point in their lives which vary in type and severity.
  7. Children with Sotos syndrome have certain facial features which become more recognizable between 1 and 6 years of age, and then less noticeable as they get older. 
  8. These include: flushed cheeks, sparse hair, a high broad forehead, eyes that slant downward, a long narrow face, and a small or pointy chin.
  9. Their height and head size are large.
  10. They are taller than other children their age, although their ultimate adult height is often in the normal range.
  11. Weight is usually not affected by this overgrowth, and some children may have a normal height and head size.
  12. They can have large hands and feet, and/or flat feet.
  13. Children do not reach developmental milestones at appropriate ages. For example, they may start walking and talking later than other children their age.
  14. 95% of children have some degree of intellectual impairment which can vary from mild to severe.
  15. They may have teeth that erupt at an early age.
  16. 30% of children develop scoliosis (curvature of the spine).
  17. 20% of children may develop hearing loss.
  18. 40% can develop vision or eye problems, such as strabismus.
  19. Constipation and behavioral problems are common at all ages.
  20. Less than 5% of affected children are at risk for developing certain types of tumors or cancers.

Possible Causes

Sotos syndrome is an autosomal dominant disorder. In the majority of cases, the child is the first person in the family to have this disorder. Sotos syndrome is caused by changes (mutations) in a gene called NSD1. This gene is located on chromosome 5.

Diagnosis

The diagnosis of Sotos syndrome is made based on the above signs and symptoms. An x-ray of the hand may be taken to see if the age of the bones appear older than the child’s actual age. Ultrasounds of the heart and kidneys may check if there are any heart or kidney defects. Imaging of the brain with a special study called an MRI may show brain abnormalities. Genetic testing is available to confirm the diagnosis.

Treatment

While there is no cure for Sotos syndrome, the child’s symptoms should be treated appropriately. They should have a physical examination every 1-2 years or more frequently if needed. Blood pressure should be monitored to make sure that it is not high. The spine of the back should be monitored for scoliosis. Hearing should be monitored especially if they have a lot of colds or ear infections. Their vision and eyes should be followed by an ophthalmologist. Constipation should be treated appropriately. Speech therapy, physical therapy, and occupational therapy are very important services for the child to receive. This extra help should be continued when they start school and therapies are often provided at school. Behavioral problems should be treated by a child psychologist or psychiatrist.

Prognosis

The prognosis of children with Sotos Syndrome is very good because this condition is not life threatening. In late childhood, muscle tone and coordination improve. The facial features usually become less noticeable in older childhood and adulthood. The rate of growth eventually slows so that they are often of normal height as adults. Depending on the degree of severity of intellectual impairment, they can go on to become independent adults or if the impairment is severe, they may need lifelong assistance.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Sotos Syndrome Support Association
A great website for families affected with Sotos syndrome including information about the SSSA's yearly conference.

Sotos Syndrome Support Association of Canada
A very good website for families who want more information about Sotos Syndrome and available support.

Google Search for Sotos Syndrome

References and Sources

McKusick, V. OMIM 117550. Sotos Syndrome. www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=117550 Gene Reviews. Sotos Syndrome. www.geneclinics.org/servlet/access?db=geneclinics&site=gt&id=8888891&key=VlXmCwrXe3-6v&gry=&fcn=y&fw=2bwn&filename=/profiles/sotos/index.html