Beckwith-Wiedemann Syndrome

Excerpt

Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth syndrome. Specifically, the condition is a human imprinting disorder caused by genetic and epigenetic changes affecting molecular regulation on chromosome 11p15.

The most notable BWS features are hemihypertrophy, macrosomia, macroglossia, and abdominal wall defects. Patients also have an increased risk of childhood cancers. However, BWS presents various signs and symptoms, making the diagnosis challenging. Early recognition in the prenatal or neonatal periods is critical for monitoring and timely treatment of complications. BWS is named after the American pediatric pathologist John Bruce Beckwith and the German pediatrician Hans-Rudolf Wiedemann, who independently described its manifestations in 1963 and 1964, respectively.