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SILVER-RUSSELL SYNDROME
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DeCS
Descriptor
Inglés
:
Silver-Russell Syndrome
Descriptor
Español
:
Síndrome de Silver-Russell
Descriptor
Portugués
:
Síndrome de Silver-Russell
Sinónimos
Inglés
:
Silver Russell Dwarfism
Silver-Russell Dwarfism
Categoría:
C05.660.207.925
C16.131.077.855
C16.131.260.870
C16.320.180.870
C16.320.240.937
Definición
Inglés
:
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.
Relacionados
Inglés
:
Beckwith-Wiedemann Syndrome
Nota Histórica
Inglés
:
2010
Calificadores Permitidos
Inglés
:
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
Número del Registro:
53498
Identificador Único:
D056730
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS