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Soto's syndrome (cerebral gigantism)
Epidemiology: rare
Genetics:
1) caused by defects in the NSD1 gene
2) most cases sporadic, new dominant mutation suspected
3) familial cases reported
Clinical manifestations:
1) large at birth with excessive physical growth during the first 2 to 3 years of life
2) mild mental retardation, cerebral disorder not progressive
3) delayed motor, cognitive, & social development
4) hypotonia
5) speech impairment
6) macrocrania
7) slightly protrusive forehead
8) large hands & feet (acromegalic features)
9) hypertelorism
10) downslanting eyes
11) high arched palate in some patients
11) clumsiness
12) ataxia
13) unusual aggressiveness or irritability
Management:
- treatment is symptomatic
Prognosis:
1) life expectancy may be normal
2) growth rate normalizes after about 3 years of age
3) developmental delays may improve
4) clumsiness & ataxia may persist into adulthood
Related
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)
General
cephalic malformation
genetic syndrome (multisystem disorder)
References
- UniProt :accession Q96L73
- NINDS Soto's Syndrome Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Sotos-Syndrome-Information-Page