Soto's syndrome (cerebral gigantism)

Epidemiology

rare

Genetics

• caused by defects in the NSD1 gene
• most cases sporadic, new dominant mutation suspected
• familial cases reported

Clinical manifestations

• large at birth with excessive physical growth during the first 2 to 3 years of life
• mild mental retardation, cerebral disorder not progressive
• delayed motor, cognitive, & social development
• hypotonia
• speech impairment
• macrocrania
• slightly protrusive forehead
• large hands & feet (acromegalic features)
• hypertelorism
• downslanting eyes
• high arched palate in some patients
• clumsiness
• ataxia
• unusual aggressiveness or irritability

Management

• treatment is symptomatic

Prognosis:

• life expectancy may be normal
• growth rate normalizes after about 3 years of age
• developmental delays may improve
• clumsiness & ataxia may persist into adulthood

More general terms

• cephalic malformation
• genetic syndrome (multisystem disorder)

Additional terms

• neuronal migration disorder
• nuclear receptor binding SET domain containing protein 1; histone-lysine N-methyltransferase, H3 Lys36 & H4 Lys20 specific; H3-K36-HMTase; H4-K20-HMTase; NR-binding SET domain containing protein; androgen receptor-associated coregulator 267 (NSD1, ARA267)

Patient information

Soto's syndrome (cerebral gigantism) patient information