Condition: Sotos Syndrome

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About Sotos Syndrome

Sotos syndrome is a variable genetic disorder characterized by excessive growth before and after birth. One of the major features of Sotos syndrome is a particular facial appearance that includes facial flushing, an abnormally prominent forehead (frontal bossing), down-slanting eyelid folds (palpebral fissures), prominent, narrow jaw, a long narrow face and a head shape that is similar to an inverted pear. Height and head circumference are measured to be greater than average for most affected children. Developmental delays are present in most children with Sotos syndrome and can include motor and language delays as well as mental retardation ranging from mild to severe. Other problems associated with Sotos syndrome include jaundice in newborns, curved spine (scoliosis), seizures, crossed eyes (strabismus), conductive hearing loss, congenital heart defects, kidney abnormalities and behavioral problems. Affected individuals also have a slightly increased risk to develop specific types of tumors. Sotos syndrome is caused by an abnormality (mutation) in the NSD1 gene.

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Last updated on Apr 25 2019 at 18:02
Disclaimer: The list and ratings above are for informational purposes only, and is intended to supplement, not substitute for, the expertise and judgment of your physician, pharmacist or other healthcare professional. The goal of the information is to provide you with a comprehensive view of all available treatments, but should not be construed to indicate that use of any one treatment is safe, appropriate, or effective for you. Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional.