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SOTOS SYNDROME
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DeCS
Descriptor
English
:
Sotos Syndrome
Descriptor
Spanish
:
Síndrome de Sotos
Descriptor
Portuguese
:
Síndrome de Sotos
Tree Number:
C16.131.077.889
C16.131.260.905
C16.320.180.905
Definition
English
:
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.
See Related
English
:
Fetal Macrosomia
Gigantism
History Note
English
:
2011
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
53997
Unique Identifier:
D058495
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS