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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:0000494 | Downslanted palpebral fissures |
| HP:0000508 | Ptosis |
| HP:0000768 | Pectus carinatum |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0001187 | Hyperextensibility of the finger joints |
| HP:0001263 | Global developmental delay |
| HP:0001508 | Failure to thrive |
| HP:0001548 | Overgrowth |
| HP:0001552 | Barrel-shaped chest |
| HP:0001609 | Hoarse voice |
