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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

mesh:Descriptor

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).

Faciocutaneoskeletal Syndrome
FCS Syndrome

Allowable Qualifier(s)

Syndrome de Costello

French
Syndrome facio-cutanéo-squelettique
Syndrome FCS

URI

http://data.loterre.fr/ark:/67375/JVR-FT2R6V4S-W

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