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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:0001800 | Hypoplastic toenails |
| HP:0001814 | Deep-set nails |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002033 | Poor suck |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002224 | Woolly hair |
| HP:0002750 | Delayed skeletal maturation |
| HP:0004322 | Short stature |
| HP:0004690 | Thickened Achilles tendon |
| HP:0005280 | Depressed nasal bridge |
