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Costello syndrome
Summary
- Synonym
-
- FCS SYNDROME
- Faciocutaneoskeletal Syndrome
- Definition
- A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays.
- Super Class
- RASopathy autosomal dominant disease
External Links
- Disease Ontology
- DOID:0050469
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000470 | Short neck |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000486 | Strabismus |
| HP:0000563 | Keratoconus |
| HP:0000682 | Abnormal dental enamel morphology |
| HP:0000951 | Abnormality of the skin |
| HP:0000956 | Acanthosis nigricans |
| HP:0000962 | Hyperkeratosis |
| HP:0001231 | Abnormal fingernail morphology |
| HP:0001249 | Intellectual disability |
