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Beckwith-Wiedemann Syndrome

Meaning

Beckwith-Wiedemann Syndrome (BWS) is a rare, complex, multi-system genetic overgrowth disorder primarily characterized by a constellation of clinical features, including macroglossia (enlarged tongue), abdominal wall defects like omphalocele, and an elevated risk of developing specific embryonal tumors, most notably Wilms tumor. It is clinically classified as an imprinting disorder, meaning it involves the abnormal regulation of specific genes based on which parent they are inherited from. The syndrome often presents early in life with significant neonatal hypoglycemia and generalized visceromegaly, which is the enlargement of internal organs. Clinical management requires a rigorous, multidisciplinary approach focusing intensely on monitoring growth and early tumor detection.