- Concept UI
- M0542875
- Scope Note
- 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.
- Terms
-
Sotos Syndrome
Preferred Term
Term UI
T764493
Date01/21/2010
LexicalTag
EPO
ThesaurusID
-
Cerebral Gigantism
Term UI
T764494
Date01/21/2010
LexicalTag
NON
ThesaurusID
-
Sotos Sequence
Term UI
T842476
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Sotos' Syndrome
Term UI
T842477
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)