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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:0002059 | Cerebral atrophy |
| HP:0002093 | Respiratory insufficiency |
| HP:0002107 | Pneumothorax |
| HP:0002119 | Ventriculomegaly |
| HP:0002212 | Curly hair |
| HP:0002779 | Tracheomalacia |
| HP:0002780 | Bronchomalacia |
| HP:0002859 | Rhabdomyosarcoma |
| HP:0002862 | Bladder carcinoma |
| HP:0002870 | Obstructive sleep apnea |
