Search on: COSTELLO SYNDROME 
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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: 		 

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