Sotos syndrome

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 (Wilms tumior, hepatoblastoma).

Synopsis

 advanced bone age
 dysmorphic face

• macrocephaly
• pointed chin

 large hands and feet
 mental retardation
 susceptibility to tumors

• Wilms tumor
• -* hepatoblastoma (19914434)
• 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

 Hepatoblastoma in a patient with sotos syndrome. Kato M, Takita J, Takahashi K, Mimaki M, Chen Y, Koh K, Ida K, Oka A, Mizuguchi M, Ogawa S, Igarashi T. J Pediatr. 2009 Dec;155(6):937-9. PMID: 19914434

Reviews

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

 Opitz JM, Weaver DW, Reynolds JF Jr. The syndromes of Sotos and Weaver: reports and review. Am J Med Genet. 1998 Oct 2;79(4):294-304. PMID: 9781911