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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:0007440 | Generalized hyperpigmentation |
| HP:0007477 | Abnormal dermatoglyphics |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009465 | Ulnar deviation of finger |
| HP:0009748 | Large earlobe |
| HP:0012740 | Papilloma |
| HP:0100679 | Lack of skin elasticity |
| HP:0100729 | Large face |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000083 | Renal insufficiency |
