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Cerebral Gigantism
Aka: Cerebral Gigantism, Soto Syndrome- Signs
- Tall Stature
- Prominent forehead
- Hypertelorism
- High arched Palate
- Large irregular head
- Antimongoloid slant of palpebral fissures
- Mental retardation
- Advanced bone age
- Labs
- See Tall Stature
- Lab results are normal in this condition
Sotos' syndrome (C0175695) |
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| Definition (NCI) | 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. |
| Definition (MSH) | 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. |
| Definition (JABL) | Increased birth weight with excessive growth during the first four years of life, macrocephaly, characteristic facial features, nonprogressive cerebral disorder and mental retardation. |
| Concepts | Congenital Abnormality (T019) , Disease or Syndrome (T047) |
| MSH | D058495 |
| ICD10 | Q87.3 |
| SnomedCT | 75968004 |
| English | Giant, cerebral, CEREBRAL GIGANTISM, SOTOS SYNDROME, Soto syndrome, Sotos' syndrome (diagnosis), Sotos' syndrome, cerebral gigantism, macrosomia-mental retardation syndrome, mental retardation-overgrowth sequence, Nevo syndrome, Sotos sequence, Gigantisms, Cerebral, Cerebral Gigantisms, Gigantism, Cerebral, Syndrome, Sotos, Cerebral Gigantism, Sotos Syndrome, soto syndrome, sotos' syndrome, syndrome cerebral gigantism, sotos syndrome, Sotos Syndrome [Disease/Finding], Cerebral gigantism syndrome, Cerebral giant, Cerebral gigantism, Sotos syndrome, Sotos' syndrome (disorder), Sotos |
| Dutch | Sotos-syndroom, cerebraal gigantisme |
| French | Syndrome de Soto, Gigantisme cérébral, Syndrome de Sotos |
| Portuguese | Síndrome de Soto, Gigantismo cerebral, Gigantismo Cerebral, Síndrome de Sotos |
| German | zerebraler Gigantismus, Sotos-Syndrom, Zerebraler Gigantismus, Cerebraler Gigantismus |
| Spanish | Gigantismo cerebral, Síndrome de Sotos, Sindrome 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 |
| 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 |
| Sources |
Derived from the NIH UMLS (Unified Medical Language System) |