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Descriptor English: Costello Syndrome
Descriptor Spanish: Síndrome de Costello
Descriptor Portuguese: Síndrome de Costello
Descriptor French: Syndrome de Costello
Entry term(s): FCS Syndrome
FCS Syndromes
Faciocutaneoskeletal Syndrome
Faciocutaneoskeletal Syndromes
Syndrome, Costello
Syndrome, FCS
Syndrome, Faciocutaneoskeletal
Syndromes, FCS
Syndromes, Faciocutaneoskeletal
Tree number(s): C05.660.207.219
C16.131.077.256
C16.320.188
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D056685
Scope note: 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).
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Public MeSH Note: 2010
History Note: 2010
Related: Genes, ras MeSH
Noonan Syndrome MeSH
Proto-Oncogene Proteins p21(ras) MeSH
DeCS ID: 53495
Unique ID: D056685
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2010/01/01
Date of Entry: 2009/07/06
Revision Date: 2013/07/08
Costello Syndrome - Preferred
Concept UI M0528444
Scope note 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).
Preferred term Costello Syndrome
Entry term(s) FCS Syndrome
FCS Syndromes
Faciocutaneoskeletal Syndrome
Faciocutaneoskeletal Syndromes
Syndrome, Costello
Syndrome, FCS
Syndrome, Faciocutaneoskeletal
Syndromes, FCS
Syndromes, Faciocutaneoskeletal



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