Sotos syndrome (cerebral gigantism)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Sotos syndrome (cerebral gigantism). This is caused by mutations in the NSD1 gene on chromosome 5q. Fully referenced neurology checklist.

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

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Dysmorphic features

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Neurological features

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Skeletal features

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Neonatal features

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Systemic features

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Cancer risks

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Best predictive features

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Differential diagnosis: Weaver syndrome

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Differential diagnosis: others

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Magnetic resonance imaging (MRI) brain

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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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