Sotos syndrome is characterized by pre- and postnatal overgrowth with advanced bone age, a dysmorphic face with macrocephaly and pointed chin, large hands and feet, mental retardation and possible susceptibility to tumors.

Synopsis

 advanced bone age
 dysmorphic face

• macrocephaly
• pointed chin

 large hands and feet
 mental retardation
 susceptibility to tumors

• Wilms tumor
• intracranial ganglioglioma (#15455365#)
• acute lymphoblastic leukemia
• acute myelocytic leukemia (#15125616#)
• Lymphomas

Etiology

 NSD1 mutations causing haploinsufficiency of the NSD1 gene at 5q35

• common microdeletion including NSD1
• truncated type of point mutation in NSD1
• deletions occur preferentially in the paternally derived chromosome 5 (#12687502#)

See also

 overgrowth syndromes

References

 Visser R, Matsumoto N. Genetics of Sotos syndrome. Curr Opin Pediatr. 2003 Dec;15(6):598-606. PMID: #14631206#