Sotos syndrome (cerebral gigantism)

Evidence-based neurology checklist on sotos syndrome (cerebral gigantism): Genetics This is caused by mutations in the NSD1 gene on chromosome 5q The transmission is autosomal dominant The mutations result in an overgrowth syndrome Cranial features Dysmorphic features Neurological features…

Genetics

  • This is caused by mutations in the NSD1 gene on chromosome 5q
  • The transmission is autosomal dominant
  • The mutations result in an overgrowth syndrome

Cranial features

Dysmorphic features

Neurological features

Skeletal features

Neonatal features

Systemic features

Cancer risks

Best predictive features

Differential diagnosis: Weaver syndrome

Differential diagnosis: others

Magnetic resonance imaging (MRI) brain

References

  1. Tatton-Brown K, Douglas J, Coleman K, et al; Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 2005; 77:193-204. 
  2. Melo DG, Acosta AX, Salles MA, Pina-Neto JM, Castro JD, Santos AC. Sotos syndrome (cerebral gigantism): analysis of 8 cases. Arq Neuropsiquiatr 2002; 60:234-238.
  3. Leventopoulos G, Kitsiou-Tzeli S, Kritikos K, et al. A clinical study of Sotos syndrome patients with review of the literature. Pediatr Neurol 2009; 40:357-364.
  4. de Boer L, Kant SG, Karperien M, et al. Genotype-phenotype correlation in patients suspected of having Sotos syndrome. Horm Res 2004; 62:197-207. 
  5. Pavone P, Praticò AD, Rizzo R, et al. A clinical review on megalencephaly: a large brain as a possible sign of cerebral impairment. Medicine (Baltimore) 2017; 96:e6814.
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