Which syndrome is commonly described by macroglossia and omphalocele among other features?

• A. Beckwith-Wiedemann syndrome
• B. Patau syndrome
• C. Turner syndrome
• D. Amniotic band syndrome

Answer: (A)

Macroglossia with an omphalocele is a classic clue for Beckwith-Wiedemann syndrome. This overgrowth disorder results from dysregulation of imprinted genes on chromosome 11p15.5, leading to increased IGF2 activity and widespread tissue overgrowth. Clinically, you often see a very large tongue and abdominal wall defects like an omphalocele, along with macrosomia and sometimes neonatal hypoglycemia. There’s also an elevated risk of certain embryonal tumors, so surveillance is important. The other conditions don’t typically present with this combination of macroglossia and omphalocele, which is why this syndrome is the best fit.