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Definition (MSH)
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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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Definition (NCI)
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A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads.
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| Concepts |
Disease or Syndrome
(T047)
, Congenital Abnormality
(T019)
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| MSH |
D058495
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| ICD10 |
Q87.3
|
| SnomedCT |
75968004
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| Dutch |
Sotos-syndroom, cerebraal gigantisme |
| French |
Syndrome de Soto, Gigantisme cérébral, Syndrome de Sotos |
| Portuguese |
Síndrome de Soto, Gigantismo cerebral, Síndrome de Sotos, Gigantismo Cerebral |
| German |
zerebraler Gigantismus, Sotos-Syndrom, Zerebraler Gigantismus, Cerebraler Gigantismus |
| Spanish |
Gigantismo cerebral, Síndrome de Sotos, gigante cerebral, síndrome de Sotos (trastorno), síndrome de Sotos, síndrome de gigantismo cerebral |
| Japanese |
ソトス症候群, 脳性巨人症, ｿﾄｽｼｮｳｺｳｸﾞﾝ, ﾉｳｾｲｷｮｼﾞﾝｼｮｳ |
| English |
CEREBRAL GIGANTISM, Soto syndrome, Sotos' syndrome (diagnosis), Sotos' syndrome, Gigantisms, Cerebral, Cerebral Gigantisms, Gigantism, Cerebral, Syndrome, Sotos, Cerebral Gigantism, Sotos Syndrome, soto syndrome, sotos' syndrome, syndrome cerebral gigantism, cerebral gigantism, sotos syndrome, Sotos Syndrome [Disease/Finding], CHROMOSOME 5q35 DELETION SYNDROME, SOTOS SYNDROME 1, SOTOS SYNDROME, SOTOS1, Soto's Syndrome, Soto Syndrome, Syndrome, Sotos', Sotos' Syndrome, Sequence, Sotos, Sotos Sequence, Cerebral gigantism syndrome, Cerebral giant, Cerebral gigantism, Sotos syndrome, Sotos' syndrome (disorder), Sotos |
| Czech |
Gigantismus mozku, cerebrální gigantismus, Sotosův syndrom |
| Italian |
Gigantismo cerebrale, Sindrome di Sotos |
| Russian |
SOTOSA SINDROM, СОТОСА СИНДРОМ, ЦЕРЕБРАЛЬНЫЙ ГИГАНТИЗМ, MAKROSOMIIA TSEREBRAL'NAIA, TSEREBRAL'NYI GIGANTIZM, МАКРОСОМИЯ ЦЕРЕБРАЛЬНАЯ |
| Hungarian |
Sotos-syndroma, Cerebralis gigantismus |
| Polish |
Zespół Sotosa, Gigantyzm mózgowy |
| Norwegian |
Cerebral gigantisme, Sotos’ syndrom |
