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SILVER-RUSSELL SYNDROME
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DeCS
Descriptor
English
:
Silver-Russell Syndrome
Descriptor
Spanish
:
Síndrome de Silver-Russell
Descriptor
Portuguese
:
Síndrome de Silver-Russell
Synonyms
English
:
Silver Russell Dwarfism
Silver-Russell Dwarfism
Tree Number:
C05.660.207.925
C16.131.077.855
C16.131.260.870
C16.320.180.870
C16.320.240.937
Definition
English
:
Genetically and clinically heterogeneous disorder characterized by low
birth weight
, postnatal
growth
retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth
fingers
. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of
Silver-Russell syndrome
. Hypermethylation of the same chromosomal region, on the other hand, can cause
BECKWITH-WIEDEMANN SYNDROME
. Maternal
UNIPARENTAL DISOMY
for
chromosome 7
is known to play a role in its etiology.
See Related
English
:
Beckwith-Wiedemann Syndrome
History Note
English
:
2010
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:
53498
Unique Identifier:
D056730
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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