{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:59Z","timestamp":1753861799234,"version":"3.41.2"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T00:00:00Z","timestamp":1739923200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Schinzel\u2010Giedion Syndrome (SGS) is an ultra\u2010rare, multisystem, genetic developmental disorder caused by gain\u2010of\u2010function pathogenic variants in the <jats:italic>SETBP1<\/jats:italic> gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method. A multidisciplinary panel of 21 experts from the USA and Europe was assembled. Experts responded to a two\u2010round questionnaire, with a subgroup participating in a virtual workshop, through which recommendations pertaining to the diagnosis, monitoring, treatment, and management of SGS were iteratively developed. Consensus was defined as \u2265\u200970% of respondents demonstrating agreement\/disagreement with 6\u2010point Likert scale questions, or \u2265\u200970% of respondents selecting a given multiple\u2010choice question option. Overall, 81\/94 statements achieved consensus. Experts agreed that the recommendations should be considered applicable to any individual with confirmed SGS or an indicative phenotype and any <jats:italic>SETBP1<\/jats:italic> gain\u2010of\u2010function mutation. Key considerations included early and sustained involvement of a multidisciplinary team, routine monitoring for common tumors, neurologic, renal, genitourinary, pulmonary, musculoskeletal and gastrointestinal manifestations\/complications, and facilitation of shared decision\u2010making processes. These recommendations should help guide clinicians and families\/caregivers in care decisions to enhance quality and duration of life for individuals with SGS and facilitate shared decision\u2010making.<\/jats:p>","DOI":"10.1002\/ajmg.a.64015","type":"journal-article","created":{"date-parts":[[2025,2,19]],"date-time":"2025-02-19T09:10:06Z","timestamp":1739956206000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["International Expert Opinion on Standard of Care for Patients With Schinzel\u2010Giedion Syndrome: A Modified Delphi Study"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6605-1028","authenticated-orcid":false,"given":"Jessica","family":"Duis","sequence":"first","affiliation":[{"name":"Rare Disease Doc  Aurora Colorado USA"},{"name":"Children's Hospital Colorado University of Colorado  Aurora Colorado USA"},{"name":"The Schinzel\u2010Giedion Syndrome Foundation  West 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