Beckwith-Wiedemann syndrome is associated with omphalocele; which of the following is a common feature of this syndrome?

• A. Omphalocele
• B. Hydrocephalus
• C. Spina bifida
• D. Pyloric stenosis

Answer: (A)

Beckwith-Wiedemann syndrome is an overgrowth condition caused by dysregulation of imprinted genes on chromosome 11p15.5, leading to features such as macroglossia, omphalocele, and visceromegaly. Omphalocele is a classic and defining feature of the syndrome, reflecting the abdominal contents failing to return into the abdomen during development. The other options—hydrocephalus, spina bifida, and pyloric stenosis—are not typical features of Beckwith-Wiedemann syndrome. In clinical care, be aware of the associated risks such as neonatal hypoglycemia and later tumor risk (e.g., Wilms tumor, hepatoblastoma), which guide monitoring and management.