Beckwith-Wiedemann syndrome is classically defined by which triad?

• A. Macrosomia, omphalocele, and macroglossia
• B. Low birth weight, micrognathia, and limb reduction
• C. Polyhydramnios, double bubble sign, and limb anomalies
• D. Hydrops, facial clefts, and diaphragmatic hernia

Answer: (A)

Beckwith-Wiedemann syndrome is an overgrowth disorder, and its most classic presentation is a trio of features that stands out in newborns and prenatal imaging: macrosomia (being larger than normal for gestational age), omphalocele (abdominal contents herniating at the umbilicus covered by a membrane), and macroglossia (an unusually large tongue). Each component reflects the generalized overgrowth and tissue disproportions seen in this condition. Macrosomia indicates overall increased body size; omphalocele shows a characteristic midline abdominal wall defect that helps distinguish BWS from other overgrowth or congenital anomalies; and macroglossia can be prominent enough to affect feeding and airway but is a hallmark feature alongside the other two. While other signs can accompany Beckwith-Wiedemann—such as organomegaly, neonatal hypoglycemia, or a higher risk of certain tumors—the combination of big baby, an omphalocele, and a large tongue is the classic triad.