Macroglossia is a common but not obligatory manifestation of Beckwith-Wiedmann Syndrome. The degree of macroglossia varies with each patient. The enlargement is generalized and may cause a variety of difficulties with speech and feeding, as well as airway problems. The macroglossia is most prominent in infants but tongue size may remain above normal in childhood and adolescence. As the hyoid descends with age, the macroglossia may improve.
Histologic examination shows hypertrophy and hyperplasia of muscle cells.
Another common cause of macroglossia is Down Syndrome. Down Syndrome is the most common genetic disorder in man, occurring in about 1 out of 700 live births. The incidence increases with maternal age. The syndrome results from nondisjunction and the affected individual has an extra chromosome 21. These patients have numerous characteristic physical findings and mental deficiency.