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Due to ubiquitous <jats:italic>HRAS<\/jats:italic> gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence\u2010based guidelines due to the lack of data for this rare condition.<\/jats:p>","DOI":"10.1002\/ajmg.a.61270","type":"journal-article","created":{"date-parts":[[2019,6,21]],"date-time":"2019-06-21T04:20:16Z","timestamp":1561090816000},"page":"1725-1744","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":129,"title":["Costello syndrome: Clinical phenotype, genotype, and management guidelines"],"prefix":"10.1002","volume":"179","author":[{"given":"Karen W.","family":"Gripp","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics A.I. duPont Hospital for Children  Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey A.","family":"Morse","sequence":"additional","affiliation":[{"name":"Ferre Institute Binghamton  New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marni","family":"Axelrad","sequence":"additional","affiliation":[{"name":"Psychology Section, Department of Pediatrics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn C.","family":"Chatfield","sequence":"additional","affiliation":[{"name":"Section of Cardiology, Department of Pediatrics University of Colorado School of Medicine  Aurora Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Chidekel","sequence":"additional","affiliation":[{"name":"Division of Pulmonology, Department of Pediatrics A.I. duPont Hospital for Children  Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7681-2844","authenticated-orcid":false,"given":"William","family":"Dobyns","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Seattle Children's Hospital  Seattle Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Doyle","sequence":"additional","affiliation":[{"name":"Division of Endocrinology A.I. duPont Hospital for Children  Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bronwyn","family":"Kerr","sequence":"additional","affiliation":[{"name":"Manchester Center for Genomic Medicine University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela E.","family":"Lin","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Department of Pediatrics MassGeneral Hospital for Children  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David D.","family":"Schwartz","sequence":"additional","affiliation":[{"name":"Psychology Section, Department of Pediatrics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara J.","family":"Sibbles","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Erasmus MC\u2010Sophia Children's Hospital  Rotterdam the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8209-122X","authenticated-orcid":false,"given":"Dawn","family":"Siegel","sequence":"additional","affiliation":[{"name":"Department of Dermatology Medical College of Wisconsin  Milwaukee Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suma P.","family":"Shankar","sequence":"additional","affiliation":[{"name":"Division of Genomic Medicine, Department of Pediatrics University of California Davis  Sacramento California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8601-0020","authenticated-orcid":false,"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetic, Department of Pediatrics Stanford University  Palo Alto California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihir M.","family":"Thacker","sequence":"additional","affiliation":[{"name":"Department of Orthopedic Surgery Nemoirs\u2010Alfred I. duPont Hospital for Children  Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. 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