Sotos syndrome

Sotos syndrome it is an autosomal dominant syndrome considered as a form of cerebral gigantism, most characterized by the prenatal and postnatal overgrowth.

There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to be between 1:10,000 and 1:50,000 5.

  • increased birth weight  (between the 75th and 97th percentile) and length (above the 97th percentile) 5
  • large head circumference at birth (usually above the 97th percentile) 5
  • macrocephaly
  • excessive growth in the first years of life
  • craniofacial dysmorphisms such as dolichocephaly, prominent forehead, hypertelorism, epicanthic folds, flat nasal bridge, down-slanting palpebral fissures, high arched palate, the premature eruption of teeth and pointed chin 6
  • intellectual disability and developmental delay 

It is an autosomal dominant syndrome with the majority of cases being described as sporadic 5.

Increased bone age documentation is a pre-requisite to diagnosis as it is thought that all cases have an advanced bone age at some time 5

Identifiable features include:

It was first described by Juan F. Sotos et al. in 1964 4

For a large head: see causes of macrocephaly.

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Article information

rID: 17781
Section: Syndromes
Synonyms or Alternate Spellings:
  • Cerebral gigantism
  • Soto's syndrome

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