Multidisciplinary Management of Costello Syndrome: Current Perspectives

Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in . 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 distin...

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Bibliographic Details
Published in:Journal of multidisciplinary healthcare 2022, Vol.15, p.1277-1296
Main Authors: Leoni, Chiara, Viscogliosi, Germana, Tartaglia, Marco, Aoki, Yoko, Zampino, Giuseppe
Format: Article
Language:English
Subjects:
Cardiac arrhythmia
Congenital diseases
costello syndrome
Gene mutations
Genetic aspects
Genetic counseling
Genotype & phenotype
Gynecology
Hair
hras
Intellectual disabilities
Kinases
multidisciplinary team
Mutation
Pediatrics
personalized medicine
Quality of life
rasopathies
Review
Tumors
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Description
Summary:Costello syndrome (CS) is a rare neurodevelopmental disorder caused by germline mutations in . 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.
ISSN:1178-2390
1178-2390
DOI:10.2147/JMDH.S291757