loading...| Preferred Name |
obsolete_Costello syndrome |
|
| Synonyms |
Intellectual disability - nasal papillomata FCS syndrome Faciocutaneoskeletal syndrome |
|
| 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://www.orpha.net/ORDO/Orphanet_3071 |
|
| Obsolete |
true |
|
| database_cross_reference |
MeSH:D056685 MedDRA:10067380 OMIM:218040 UMLS:C0587248 ICD10:Q87.8 |
|
| 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. |
|
| definition_citation |
orphanet |
|
| deprecated |
true |
|
| has_exact_synonym |
Faciocutaneoskeletal syndrome FCS syndrome Intellectual disability - nasal papillomata |
|
| label |
obsolete_Costello syndrome |
|
| obsoleted_in_version |
3.41.0 |
|
| prefLabel |
obsolete_Costello syndrome |
|
| reason_for_obsolescence |
Replaced with Mondo term. |
|
| term replaced by | ||
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_3071 | ORDO | SAME_URI |