Macroglossia is the abnormal enlargement of the tongue in proportion to other structures in the mouth. It usually occurs secondary to an underlying disorder that may be present from birth (congenital) or acquired. In rare cases, it is an isolated, congenital feature. Symptoms associated with macroglossia may include drooling; speech impairment; difficulty eating; stridor; snoring; airway obstruction; abnormal growth of the jaw and teeth; ulceration; and/or dying tissue on the tip of the tongue. The tongue may protrude from the mouth.

Inherited or congenital disorders associated with macroglossia include Down syndrome, Beckwith-Wiedemann syndrome, primary amyloidosis, and congenital hypothyroidism. Acquired causes may include trauma, cancer, endocrine disorders, and inflammatory or infectious diseases. Isolated, congenital macroglossia can be genetic, inherited in an autosomal dominant manner. Treatment depends upon the underlying cause and severity and may range from speech therapy in mild cases, to surgical reduction in more severe cases.

Specialists that may be involved in assessing or treating a person with macroglossia may include plastic surgeons or oral and maxillofacial surgeons; orthodontists; otolaryngologists (ear, nose and throat doctors); dentists; and speech and language therapists.

While macroglossia may have various causes, a carefully evaluated patient history can typically indicate the cause and determine the types of lab tests that may be needed. Tests may help to confirm a suspected cause or to determine the extent of the abnormality.

Imaging tests for a person with macroglossa may include CT scan and MRI; ultrasonography; panorex (panoramic X-ray) and cephalometric radiograph (image of the head); and/or a barium swallow study. Diagnostic procedures, such as a biopsy or fine needle aspiration, may be performed depending on the suspected cause of macroglossia.

Medical therapy for macroglossia is useful when the underlying cause is identified, and the cause is medically treatable - such as hypothyroidism, infection, or amyloidosis. No medical treatments have been proven useful when the cause is unclear. Surgery to reduce the size of the tongue may be an option for people with macroglossia. Most studies have shown that surgical procedures for macroglossia lead to improved physical appearance, speech, chewing and feeding.