© Martinez-Agosto Laboratory, Department of Human Genetics, University of California, Los Angeles, 2008-2015.

 

Sotos Syndrome

Description:
Sotos syndrome is characterized by the cardinal features of typical facial appearance, overgrowth (height and/or head circumference ≥2 SD above the mean), and learning disability ranging from mild (children attend mainstream schools and are likely to be independent as adults) to severe (lifelong care and support are required). Sotos syndrome is associated with the major features of behavioral problems, congenital cardiac anomalies, neonatal jaundice, renal anomalies, scoliosis, and seizures.

Testing:
The diagnosis of Sotos syndrome is established by a combination of clinical findings and molecular genetic testing. NSD1 is the only gene known to be associated with Sotos syndrome. About 80%-90% of individuals with Sotos syndrome have a demonstrable NSD1 abnormality.

More information:
Sotos Syndrome