- 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).
- Terms
-
Costello Syndrome
Preferred Term
Term UI
T733187
Date01/13/2009
LexicalTag
EPO
ThesaurusID
-
Faciocutaneoskeletal Syndrome
Term UI
T733188
Date01/13/2009
LexicalTag
NON
ThesaurusID
-
FCS Syndrome
Term UI
T843516
Date05/02/2013
LexicalTag
ABX
ThesaurusID
GHR (2014)