Oshtoran Syndrome (H63D Syndrome Type 3) - Peer reviewed version

DOI on HARVARD Dataverse: https://doi.org/10.7910/DVN/EFCPL4Oshtoran Syndrome, also known as H63D Syndrome Type-3, is a multifaceted meta-syndromic condition characterized by an array of clinical manifestations. These manifestations include irregular iron homeostasis, micro-inflammatory events, neuropsychiatric disturbances, multi-organ pathology, and notably, autonomic dysfunctions that affect the Central Nervous System, the Autonomous Nervous System, and the innate immune system. A nuanced understanding of the underlying pathophysiological mechanisms is crucial for precise diagnosis, evidence-based management, and the development of targeted therapeutic strategies. Healthcare professionals are encouraged to employ an interdisciplinary framework in patient management, accentuating the imperative for early diagnostic efforts, timely interventions, and patient-focused educational initiatives. Future research should strategically focus on the employment of gene-editing technologies and the identification of novel therapeutic options to address the root genetic anomalies and the corresponding heterogeneous symptomatology.