Sotos syndrome is an uncommon genetic condition characterized by a physical overgrowth in childhood, a distinctive facial appearance and learning disabilities. Sotos syndrome is caused by a fault in the NSD1 gene. It is inherited as an autosomal dominant trait. Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases.
The syndrome was first described in 1964 by Juan F Sotos in the New England Journal of Medicine.
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