Sotos syndrome, sometimes called cerebral gigantism, is a genetic condition that causes a child to grow larger and more quickly than is expected for age. Most notably, the head is often disproportionately large and long, and the forehead may protrude slightly. Children with this disorder are often taller and heavier than their peers and are more likely to experience metal retardation and poor muscle tone.
Symptoms of Sotos Syndrome
Sotos syndrome not only affects the size of an infant or young child, but may also cause problems with social and cognitive development, motor skills and can affect mood. Because of the abnormalities to physical appearance, children with this disorder are subject to low self-esteem and behavioral problems. Following is a list of symptoms that may help to identify this particular condition:
- Macrocrania (unusually large head with slightly protruding forehead)
- Abnormally large size, both in height and weight
- Mental retardation or delayed motor, cognitive and social skills
- Hypertelorism (abnormal spacing between the eyes)
- Downslanted eyes
- Speech impediments, stuttering or monotone voice
- Hypotonia (weak muscle tone)
- Awkward gait and clumsiness
- Aggression and irritability
- Impulsive behavior
- Hearing or vision problems
- Height and weight may stabilize to within normal range by adulthood
Causes of Sotos Syndrome
Sotos syndrome appears to be genetic in nature, but not necessary passed along the family tree. Most cases develop with no oher known symptoms within the family history. This condition is caused by a mutation in the NSD1 gene, which is responsible for instructing a certain protein involved in growth and development. Research has yet to determine the full relationship between this mutated gene and the disorder.
Diagnosis of Sotos Syndrome
While there is not a particular or specialized test to determine the presence of Sotos syndrome, there are a number of criteria involved in making a diagnosis. Aside from observation of physical characteristics present in affected children, intellectual, cognitive and social development will also be observed. Additionally, children with this condition tend to experience advanced bone age. An x-ray of the wrist can help to reveal the condition of the bones. An MRI brain scan may also be conducted to look for tell-tale signs of this disorder. The following results from an MRI are not always present and may indicate other conditions, but also tend to be very common in children with Sotos syndrome:
- Excess fluid on the brain
- Larger sized ventricles
- Reduced size of the corpus callosum
- Reduced size of the cerebellar vermis
- Skull size is increased, while brain size is normal
Treatment for Sotos Syndrome
There are no specific treatment options for Sotos syndrome, and there is currently no cure. Treating this disorder is largely aimed at any underlying complications and/or management of learning, behavioral or physical difficulties. Children and adults with Sotos syndrome experience a varying degree of symptoms, so management and treatment will vary depending upon individual. Following is a brief list of certain types of treatment that may benefit different symptoms:
- Physical therapy - children who experience problems with gait or decreased functionality in motor skills may benefit.
- Behavioral therapy - if behavior problems or learning disorders are present, this type of therapy aims to corrent them with positive reinforcement and other specialized activities and exercises.
- Medication - children in North America are sometimes prescribed behavioral modification medications, such as Ritalin, to assist with learning difficulties, anxiety or aggression.
- Ongoing medical testing and surveillance - it's recommended to participate in continued monitoring of behavior patterns and the development of any additional medical problems. Children with Sotos syndrome have a higher tendency to develop curvature of the spine, heart or kidney problems, high blood pressure, hearing and vision problems, infections or other symptoms. Constant monitoring of these changes can help lead to appropriate and timely treatment.