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Disease Costello Syndrome

Name Costello Syndrome
Synonyms CMEMS, INCLUDED | CSTLO | Faciocutaneoskeletal Syndrome | Faciocutaneoskeletal Syndromes | FCS Syndrome | FCS SYNDROME MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED | FCS Syndromes | Syndrome, Costello | Syndrome, Faciocutaneoskeletal | Syndrome, FCS | Syndromes, Faciocutaneoskeletal | Syndromes, FCS
Definition 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).
Categories Congenital abnormality | Genetic disease (inborn) | Musculoskeletal disease
MeSH® ID D056685
OMIM® ID 218040
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Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Costello Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Costello Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Costello Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

None.