Descriptors Found: 1
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 1 / 1 DeCS     
Descriptor English:   Costello Syndrome 
Descriptor Spanish:   Síndrome de Costello 
Descriptor Portuguese:   Síndrome de Costello 
Synonyms English:   FCS Syndrome
FCS Syndromes
Faciocutaneoskeletal Syndrome
Faciocutaneoskeletal Syndromes
Syndrome, Costello
Syndrome, FCS
Syndrome, Faciocutaneoskeletal
Syndromes, FCS
Syndromes, Faciocutaneoskeletal  
Tree Number:   C05.660.207.219
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   53495 
Unique Identifier:   D056685 

Occurrence in VHL: