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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Costello Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Costello Syndrome
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Costello Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Costello Syndrome

Preferred term

Costello Syndrome  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

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

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).

History note

  • 2010

In other languages

URI

http://www.yso.fi/onto/mesh/D056685

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