Endocrinology Book

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Cerebral Gigantism

Aka: Cerebral Gigantism, Soto Syndrome
  1. Signs
    1. Tall Stature
    2. Prominent forehead
    3. Hypertelorism
    4. High arched Palate
    5. Large irregular head
    6. Antimongoloid slant of palpebral fissures
    7. Mental Retardation
    8. Advanced Bone Age
  2. Labs
    1. See Tall Stature
    2. Lab results are normal in this condition

Sotos' syndrome (C0175695)

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 (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.
Concepts Disease or Syndrome (T047) , Congenital Abnormality (T019)
MSH D058495
ICD10 Q87.3
SnomedCT 75968004
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, ソトスショウコウグン, ノウセイキョジンショウ
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
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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