Descriptor English: | Sotos Syndrome | ||||
Descriptor Spanish: |
Síndrome de Sotos
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Descriptor Portuguese: | Síndrome de Sotos | ||||
Descriptor French: | Syndrome de Sotos | ||||
Entry term(s): |
Cerebral Gigantism Cerebral Gigantisms Gigantism, Cerebral Gigantisms, Cerebral Sequence, Sotos Soto Syndrome Soto's Syndrome Sotos Sequence Sotos' Syndrome Syndrome, Sotos Syndrome, Sotos' |
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Tree number(s): |
C16.131.077.889 C16.131.260.905 C16.320.180.905 |
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RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D058495 | ||||
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. |
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Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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Previous Indexing: |
Acromegaly (1977-2010) Gigantism (1977-2010) |
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Public MeSH Note: | 2011 |
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History Note: | 2011 |
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Related: |
Fetal Macrosomia
MeSH Gigantism MeSH | ||||
DeCS ID: | 53997 | ||||
Unique ID: | D058495 | ||||
Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||
Date Established: | 2011/01/01 | ||||
Date of Entry: | 2010/06/25 | ||||
Revision Date: | 2013/07/08 |
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Sotos Syndrome
- Preferred
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. |
Preferred term | Sotos Syndrome |
Entry term(s) |
Cerebral Gigantism Cerebral Gigantisms Gigantism, Cerebral Gigantisms, Cerebral Sequence, Sotos Soto Syndrome Soto's Syndrome Sotos Sequence Sotos' Syndrome Syndrome, Sotos Syndrome, Sotos' |
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