Expresión de búsqueda:
COSTELLO SYNDROME
Descriptores Encontrados:
1
Mostrando:
1 .. 1
1 / 1
DeCS
Descriptor
Inglés
:
Costello Syndrome
Descriptor
Español
:
Síndrome de Costello
Descriptor
Portugués
:
Síndrome de Costello
Sinónimos
Inglés
:
Faciocutaneoskeletal Syndrome
Categoría:
C05.660.207.219
C16.131.077.256
C16.320.185
Definición
Inglés
:
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features,
musculoskeletal abnormalities
, neurocognitive delay, and high
prevalence
of cancer. Germline mutations in H-Ras protein can cause
Costello syndrome
.
Costello syndrome
shows early phenotypic overlap with other disorders that involve
MAP KINASE SIGNALING SYSTEM
(e.g.,
NOONAN SYNDROME
and cardiofaciocutaneous
syndrome
).
Relacionados
Inglés
:
Genes, ras
Noonan Syndrome
Proto-Oncogene Proteins p21(ras)
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:
53495
Identificador Único:
D056685
Ocurrencia en la BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS