Macroglossia, an enlarged and protruding tongue, may be associated with which syndrome?

• A. Beckwith-Wiedemann syndrome
• B. Hyperthyroidism
• C. Pierre Robin sequence
• D. Down syndrome

Answer: (A)

Macroglossia is a classic feature of Beckwith-Wiedemann syndrome, an overgrowth condition caused by imprinting defects on chromosome 11p15 that lead to IGF2 overexpression and increased tissue growth. This syndrome often presents with macrosomia, macroglossia, omphalocele, and visceromegaly, and it carries a higher risk of embryonal tumors such as Wilms tumor and hepatoblastoma, which necessitates regular surveillance. The other options don’t define a congenital syndrome by macroglossia: hyperthyroidism can cause tongue swelling but is not a congenital syndrome; Pierre Robin sequence centers on micrognathia with glossoptosis leading to airway issues; Down syndrome can feature a relatively prominent tongue due to hypotonia, but macroglossia is not its defining hallmark.