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Schinzel-Giedion Syndrome (SGS) is an ultra-rare, multisystem genetic developmental disorder caused by gain-of-function pathogenic variants in the SETBP1 gene. Currently, no standard of care (SoC) recommendations exist.
This study aimed to assess expert opinions on SoC for individuals with SGS using a modified Delphi method. A multidisciplinary panel of 21 experts from the USA and Europe participated in a two-round questionnaire, with a subgroup joining a virtual workshop. Through this process, recommendations for diagnosis, monitoring, treatment, and management were iteratively developed.
Experts agreed that these recommendations should apply to any individual with confirmed SGS or an indicative phenotype with any SETBP1 gain-of-function mutation. Key considerations included early and sustained involvement of a multidisciplinary team, routine monitoring for common tumors, and vigilance for neurologic, renal, genitourinary, pulmonary, musculoskeletal, and gastrointestinal manifestations. Shared decision-making was emphasized as a critical component of care.
These recommendations provide guidance for clinicians, families, and caregivers, aiming to improve both the quality and duration of life for individuals with SGS. Read the full article here.