Pesquisa sobre:
COSTELLO SYNDROME
Descritores Encontrados:
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DeCS
Descritor
Inglês
:
Costello Syndrome
Descritor
Espanhol
:
Síndrome de Costello
Descritor
Português
:
Síndrome de Costello
Sinônimos
Inglês
:
Faciocutaneoskeletal Syndrome
Categoria:
C05.660.207.219
C16.131.077.256
C16.320.185
Definição
Inglês
:
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
Inglês
:
Genes, ras
Noonan Syndrome
Proto-Oncogene Proteins p21(ras)
Nota Histórica
Inglês
:
2010
Qualificadores Permitidos
Inglês
:
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 do Registro:
53495
Identificador Único:
D056685
Ocorrência na BVS
:
Similar:
DeCS
CID-10
SciELO
LILACS
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