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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:0001622 | Premature birth |
| HP:0001631 | Atrial septal defect |
| HP:0001699 | Sudden death |
| HP:0001762 | Talipes equinovarus |
| HP:0001771 | Achilles tendon contracture |
| HP:0001808 | Fragile nails |
| HP:0001816 | Thin nail |
| HP:0001869 | Deep plantar creases |
| HP:0001943 | Hypoglycemia |
| HP:0002021 | Pyloric stenosis |
