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COSTELLO SYNDROME
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DeCS
Descriptor
English
:
Costello Syndrome
Descriptor
Spanish
:
Síndrome de Costello
Descriptor
Portuguese
:
Síndrome de Costello
Synonyms
English
:
Faciocutaneoskeletal Syndrome
Tree Number:
C05.660.207.219
C16.131.077.256
C16.320.185
Definition
English
:
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
).
See Related
English
:
Genes, ras
Noonan Syndrome
Proto-Oncogene Proteins p21(ras)
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:
53495
Unique Identifier:
D056685
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS