Costello Syndrome

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).

Year introduced: 2010

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Tree Number(s): C05.660.207.219, C16.131.077.256, C16.320.188

MeSH Unique ID: D056685

Entry Terms:

• Syndrome, Costello
• FCS Syndrome
• FCS Syndromes
• Syndrome, FCS
• Syndromes, FCS
• Faciocutaneoskeletal Syndrome
• Faciocutaneoskeletal Syndromes
• Syndrome, Faciocutaneoskeletal
• Syndromes, Faciocutaneoskeletal

See Also:

• Noonan Syndrome
• Genes, ras
• Proto-Oncogene Proteins p21(ras)

All MeSH Categories
Diseases Category
Musculoskeletal Diseases
Musculoskeletal Abnormalities
Craniofacial Abnormalities
Costello Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Costello Syndrome

All MeSH Categories
Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Costello Syndrome