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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:0002878 | Respiratory failure |
| HP:0002996 | Limited elbow movement |
| HP:0003745 | Sporadic |
| HP:0003764 | Nevus |
| HP:0005989 | Redundant neck skin |
| HP:0006191 | Deep palmar crease |
| HP:0007099 | Chiari type I malformation |
| HP:0008070 | Sparse hair |
| HP:0009588 | Vestibular schwannoma |
| HP:0011675 | Arrhythmia |
