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Disease Sotos Syndrome

Name Sotos Syndrome
Synonyms Cerebral Gigantism | Cerebral Gigantisms | CHROMOSOME 5q35 DELETION SYNDROME | Gigantism, Cerebral | Gigantisms, Cerebral | Sequence, Sotos | SOTOS1 | Sotos Sequence | Soto's Syndrome | Sotos' Syndrome | SOTOS SYNDROME | SOTOS SYNDROME 1 | Soto Syndrome | Syndrome, Sotos | Syndrome, Sotos'
Definition Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
Categories Congenital abnormality | Genetic disease (inborn)
MeSH® ID D058495
OMIM® ID 117550
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Sotos Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Sotos Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Sotos Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Sotos Syndrome Has associated chemicals Has associated genes
  Nevo syndrome Has associated chemicals Has associated genes