Multidisciplinary Management of Costello Syndrome: Current Perspectives
Chiara Leoni, Germana Viscogliosi, Marco Tartaglia, Yoko Aoki, Giuseppe Zampino
Abstract
Abstract: 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