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SMITH-MAGENIS SYNDROME
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DeCS
Descriptor
English
:
Smith-Magenis Syndrome
Descriptor
Spanish
:
Síndrome de Smith-Magenis
Descriptor
Portuguese
:
Síndrome de Smith-Magenis
Tree Number:
C10.281.900
C16.131.077.879
C16.131.260.887
C16.320.180.887
Definition
English
:
Complex neurobehavioral disorder characterized by distinctive facial features (
FACIES
), developmental delay and
INTELLECTUAL DISABILITY
. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of
MELATONIN
. The
syndrome
is associated with de novo deletion or
mutation
and
HAPLOINSUFFICIENCY
of the retinoic acid-induced 1 protein on chromosome 17p11.2.
See Related
English
:
Chronobiology Disorders
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:
53964
Unique Identifier:
D058496
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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