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DeCS
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Descriptor English:
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Costello Syndrome
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Descriptor Spanish:
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Síndrome de Costello
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Descriptor Portuguese:
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Síndrome de Costello
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Synonyms English:
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FCS Syndrome
FCS Syndromes
Faciocutaneoskeletal Syndrome
Faciocutaneoskeletal Syndromes
Syndrome, Costello
Syndrome, FCS
Syndrome, Faciocutaneoskeletal
Syndromes, FCS
Syndromes, Faciocutaneoskeletal
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Tree Number:
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C05.660.207.219
C16.131.077.256
C16.320.188
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Definition English:
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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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See Related English:
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Genes, ras
Noonan Syndrome
Proto-Oncogene Proteins p21(ras)
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History Note English:
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2010
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Allowable Qualifiers English:
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Record Number:
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53495
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Unique Identifier:
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D056685
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Occurrence in VHL:
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Similar:
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DeCS
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