| Descriptor English: | Costello Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Costello
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| 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 |
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| Tree number(s): |
C05.660.207.219 C16.131.077.256 C16.320.188 |
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| 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). |
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| 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 |
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| Public MeSH Note: | 2010 |
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| History Note: | 2010 |
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| 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 |
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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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