Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Large hands



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PMID (PMCID)
21567906
 MALE Infant
Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: microcephaly, developmental delay and delayed bone age.
Zhang H, Lu X, Beasley J, Mulvihill JJ, Liu R, Li S, Lee JY.
Am J Med Genet A. 2011;155A(6):1374-8.
Haploinsufficiency of the NSD1 gene due to 5q35 microdeletions or intragenic mutations is the major cause of Sotos syndrome characterized by generalized overgrowth, large hands and feet with advanced bone age, craniofacial dysmorphic features, learning disability, and possible susceptibility to tumors.
17978548
 MALE Child
Dentofacial growth in patients with Sotos syndrome.
Takei K, Sueishi K, Yamaguchi H, Ohtawa Y.
Bull Tokyo Dent Coll. 2007;48(2):73-85.
Sotos syndrome is an overgrowth syndrome leading to peculiar facial characteristics, large hands and feet, and mental retardation.
7410107
 FEMALE Child
Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration.
Ferrier PE, de Meuron G, Korol S, Hauser H.
Helv Paediatr Acta. 1980;35(1):97-102.
A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism.
7410107
 FEMALE Child
Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration.
Ferrier PE, de Meuron G, Korol S, Hauser H.
Helv Paediatr Acta. 1980;35(1):97-102.
A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism.