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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:0001382 | Joint hypermobility |
| HP:0001531 | Failure to thrive in infancy |
| HP:0001561 | Polyhydramnios |
| HP:0001582 | Redundant skin |
| HP:0001595 | Abnormal hair morphology |
| HP:0001598 | Concave nail |
| HP:0001629 | Ventricular septal defect |
| HP:0001634 | Mitral valve prolapse |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0001642 | Pulmonic stenosis |
