What is Sotos Syndrome?
Sotos syndrome, also known as cerebral gigantism due to its characteristic head shape and size, is listed as an uncommon form of variable autosomal dominant hereditary disorder differentiated by the excessive physical growth all through the first year to the third year of life. It is relatively rare with an incidence of approximately 1 in every 14,000 births. Accompanying conditions include mild mental retardation, nonprogressive cerebral disorder delayed motor, intellectual and social development, hypotonia and communication difficulties. Typical facial appearance includes long face, down-slanting palpebral fissures, reddened cheeks and small, sharp chin. Behavioral problems associated with the disorder are phobias, attention deficit hyperactivity disorder and tantrums.
Sotos syndrome is caused by the mutations in NSD1 gene which provides genetic information for the production of a protein involved in the normal growth and development. Micromutations in the said gene prevent one copy from making any functional protein, thus, there is a reduced amount of protein which then leads to multiple manifestations of Sotos syndrome.
It is not life-threatening. Abnormalities are just initial; it commonly resolves as individuals growth rate becomes the same with the norm after three years of their life. Treatment depends upon the symptoms experienced by the individual but still, there is no standard course of treatment for this genetic syndrome.
Pictures of Sotos Syndrome
Images, Photos and Pictures of Sotos Syndrome…