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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:0000028 | Cryptorchidism |
| HP:0000158 | Macroglossia |
| HP:0000164 | Abnormality of the dentition |
| HP:0000179 | Thick lower lip vermilion |
| HP:0000189 | Narrow palate |
| HP:0000256 | Macrocephaly |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000293 | Full cheeks |
| HP:0000368 | Low-set, posteriorly rotated ears |
