loading...| Preferred Name |
Costello syndrome |
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| Synonyms |
Faciocutaneoskeletal syndrome |
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| Definitions |
A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_3071 |
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| alternative_term |
Faciocutaneoskeletal syndrome FCS syndrome |
|
| definition |
A rare syndrome with intellectual disability, characterized by failure to thrive, short stature, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors. Costello syndrome belongs to the RASopathies, a group of conditions resulting from germline derived point mutations affecting the RAS-mitogen activated protein kinase pathway. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3071 |
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| has_age_of_onset |
Antenatal Neonatal |
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| has_inheritance |
Not applicable Autosomal dominant |
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| hasDbXref |
MeSH:D056685 MedDRA:10067380 OMIM:218040 UMLS:C0587248 ICD-10:Q87.8 ICD-11:LD2F.1Y |
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| label |
Costello syndrome |
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| notation |
ORPHA:3071 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_228215 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_477771 |
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| prefixIRI |
ORDO:Orphanet_3071 |
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| prefLabel |
Costello syndrome |
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| present_in |
Japan AND has_point_prevalence_average_value : 0.08 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_cases/families_value : 300.0 (Case) Worldwide AND has_point_prevalence_range : Unknown |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_139027 http://www.orpha.net/ORDO/Orphanet_228215 http://www.orpha.net/ORDO/Orphanet_611327 http://www.orpha.net/ORDO/Orphanet_102283 http://www.orpha.net/ORDO/Orphanet_477771 |
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| subClassOf |