Multidisciplinary Management of Costello Syndrome: Current Perspectives
Chiara Leoni,1 Germana Viscogliosi,1 Marco Tartaglia,2 Yoko Aoki,3 Giuseppe Zampino1,4 1Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy; 2Genetics and Rare Diseases Research Divis...
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| Format: | Article |
| Language: | English |
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Dove Medical Press
2022-06-01
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| Series: | Journal of Multidisciplinary Healthcare |
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| Online Access: | https://www.dovepress.com/multidisciplinary-management-of-costello-syndrome-current-perspectives-peer-reviewed-fulltext-article-JMDH |
| _version_ | 1828806186592370688 |
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| author | Leoni C Viscogliosi G Tartaglia M Aoki Y Zampino G |
| author_facet | Leoni C Viscogliosi G Tartaglia M Aoki Y Zampino G |
| author_sort | Leoni C |
| collection | DOAJ |
| description | Chiara Leoni,1 Germana Viscogliosi,1 Marco Tartaglia,2 Yoko Aoki,3 Giuseppe Zampino1,4 1Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy; 2Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; 3Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan; 4Università Cattolica del Sacro Cuore, Rome, ItalyCorrespondence: Chiara Leoni, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Largo Gemelli 8, Rome, IT-00168, Italy, Tel +39-063381344, Fax +39-063383211, Email chiara.leoni@policlinicogemelli.itAbstract: Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS. It belongs among the RASopathies, a group of syndromes characterized by alterations in components of the RAS/MAPK signaling pathway and sharing overlapping phenotypes. Its typical features include a distinctive facial appearance, growth delay, intellectual disability, ectodermal, cardiac, and musculoskeletal abnormalities, and cancer predisposition. Due to the several comorbidities having a strong impact on the quality of life, a multidisciplinary team is essential in the management of such a condition from infancy to adult age, to promptly address any detected issue and to develop appropriate personalized follow-up protocols and treatment strategies. With the present paper we aim to highlight the core and ancillary medical disciplines involved in managing the health challenges characterizing CS from pediatric to adult age, according to literature and to our large clinical experience.Keywords: multidisciplinary team, personalized medicine, HRAS, Costello syndrome, RASopathies |
| first_indexed | 2024-12-12T08:06:09Z |
| format | Article |
| id | doaj.art-0b0d9046da164807a120e82b0764b5bf |
| institution | Directory Open Access Journal |
| issn | 1178-2390 |
| language | English |
| last_indexed | 2024-12-12T08:06:09Z |
| publishDate | 2022-06-01 |
| publisher | Dove Medical Press |
| record_format | Article |
| series | Journal of Multidisciplinary Healthcare |
| spelling | doaj.art-0b0d9046da164807a120e82b0764b5bf2022-12-22T00:31:58ZengDove Medical PressJournal of Multidisciplinary Healthcare1178-23902022-06-01Volume 151277129675690Multidisciplinary Management of Costello Syndrome: Current PerspectivesLeoni CViscogliosi GTartaglia MAoki YZampino GChiara Leoni,1 Germana Viscogliosi,1 Marco Tartaglia,2 Yoko Aoki,3 Giuseppe Zampino1,4 1Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Rome, Italy; 2Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; 3Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan; 4Università Cattolica del Sacro Cuore, Rome, ItalyCorrespondence: Chiara Leoni, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario “A. Gemelli” IRCCS, Largo Gemelli 8, Rome, IT-00168, Italy, Tel +39-063381344, Fax +39-063383211, Email chiara.leoni@policlinicogemelli.itAbstract: Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in HRAS. It belongs among the RASopathies, a group of syndromes characterized by alterations in components of the RAS/MAPK signaling pathway and sharing overlapping phenotypes. Its typical features include a distinctive facial appearance, growth delay, intellectual disability, ectodermal, cardiac, and musculoskeletal abnormalities, and cancer predisposition. Due to the several comorbidities having a strong impact on the quality of life, a multidisciplinary team is essential in the management of such a condition from infancy to adult age, to promptly address any detected issue and to develop appropriate personalized follow-up protocols and treatment strategies. With the present paper we aim to highlight the core and ancillary medical disciplines involved in managing the health challenges characterizing CS from pediatric to adult age, according to literature and to our large clinical experience.Keywords: multidisciplinary team, personalized medicine, HRAS, Costello syndrome, RASopathieshttps://www.dovepress.com/multidisciplinary-management-of-costello-syndrome-current-perspectives-peer-reviewed-fulltext-article-JMDHmultidisciplinary teampersonalized medicinehrascostello syndromerasopathies |
| spellingShingle | Leoni C Viscogliosi G Tartaglia M Aoki Y Zampino G Multidisciplinary Management of Costello Syndrome: Current Perspectives Journal of Multidisciplinary Healthcare multidisciplinary team personalized medicine hras costello syndrome rasopathies |
| title | Multidisciplinary Management of Costello Syndrome: Current Perspectives |
| title_full | Multidisciplinary Management of Costello Syndrome: Current Perspectives |
| title_fullStr | Multidisciplinary Management of Costello Syndrome: Current Perspectives |
| title_full_unstemmed | Multidisciplinary Management of Costello Syndrome: Current Perspectives |
| title_short | Multidisciplinary Management of Costello Syndrome: Current Perspectives |
| title_sort | multidisciplinary management of costello syndrome current perspectives |
| topic | multidisciplinary team personalized medicine hras costello syndrome rasopathies |
| url | https://www.dovepress.com/multidisciplinary-management-of-costello-syndrome-current-perspectives-peer-reviewed-fulltext-article-JMDH |
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