Mechanisms of Macroglossia in Beckwith-Wiedemann Syndrome

Macroglossia (severe tongue overgrowth) is a hallmark feature of Beckwith-Wiedemann Syndrome (BWS) and can lead to catastrophic morbidity and mortality in affected infants. Respiratory distress and airway obstruction are frequently present at birth, and the only current treatment is surgical tongue reduction. However, surgery carries risks, including lingual nerve injury, infection, and incomplete resolution of overgrowth and does not address the underlying molecular drivers of disease. Despite the tongue being primarily composed of skeletal muscle, in-depth molecular and cellular analyses of human tongue tissue remain limited in both BWS and normal development.