Sotos syndrome is characterized by overgrowth, distinctive facial features, macrodolichocephaly, and learning disability or behavioral abnormalities. Cardiac anomalies, renal anomalies, hypodontia, seizures and scoliosis are also major features. NSD1 haploinsufficiency is the major cause of typical Sotos syndrome. Patients harboring NFIX gene mutations are also known as Malan syndrome or Sotos 2. Genetic testing is mandatory for diagnosis due to clinical overlap with other overgrowth syndromes.
Jun. 17, 2020