loading...| Preferred Name |
Costello syndrome |
|
| Synonyms |
congenital myopathy with excess of muscle spindles Costello syndrome faciocutaneoskeletal syndrome FCS syndrome CSTLO myopathy, congenital, with excess of muscle spindles |
|
| Definitions |
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009026 |
|
| has_exact_synonym |
congenital myopathy with excess of muscle spindles Costello syndrome faciocutaneoskeletal syndrome FCS syndrome |
|
| has_related_synonym |
CSTLO myopathy, congenital, with excess of muscle spindles |
|
| IAO_0000233 |
https://github.com/monarch-initiative/mondo/issues/5682 |
|
| label |
Costello syndrome |
|
| prefixIRI |
MONDO:0009026 |
|
| prefLabel |
Costello syndrome |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/1550/costello-syndrome |
|
| textual definition |
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 |