Which syndrome is associated with macroglossia?

• A. Beckwith-Wiedemann syndrome
• B. Turner syndrome
• C. Prader-Willi syndrome
• D. Angelman syndrome

Answer: (A)

Macroglossia in a newborn is a clue for Beckwith-Wiedemann syndrome, an overgrowth condition. This syndrome results from dysregulation of imprinted genes on chromosome 11p15.5, leading to increased growth signals such as IGF2 and reduced growth suppression. The excessive growth manifests not only as a large tongue but also as features like omphalocele and visceromegaly, and it can cause feeding difficulties or airway issues in the newborn period. While Turner syndrome, Prader-Willi syndrome, and Angelman syndrome each have distinctive clinical pictures, macroglossia is not a hallmark of those conditions. Beckwith-Wiedemann syndrome is the classic association with an abnormally large tongue.