Macroglossia is most commonly associated with which syndrome?

• A. Beckwith-Wiedemann syndrome
• B. Turner syndrome
• C. Noonan syndrome
• D. Klinefelter syndrome

Answer: (A)

Macroglossia is a hallmark feature of Beckwith-Wiedemann syndrome, a congenital overgrowth disorder. In this condition, dysregulation of imprinted genes on chromosome 11p15.5—particularly increased IGF2 expression and reduced CDKN1C activity—drives generalized overgrowth, including an enlarged tongue. Clinically this can present with a visibly large tongue at birth, often alongside other overgrowth signs such as abdominal wall defects (like omphalocele) and organ enlargement. Beckwith-Wiedemann also carries a higher risk for embryonal tumors such as Wilms tumor and hepatoblastoma, which informs surveillance. The other syndromes listed have their own characteristic features (Turner with short stature and neck webbing; Noonan with distinctive facial features and heart defects; Klinefelter with an XXY male pattern), but macroglossia is not a typical hallmark of them.