Macroglossia is the medical term for an unusually large tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties in speaking, eating, swallowing and sleeping. Macroglossia is uncommon, and usually occurs in children. There are many causes. Treatment depends upon the exact cause.
Signs and symptoms
thumb|Macroglossia with prognathism and open resting mouth position
thumb|Severe macroglossia
Although it may be asymptomatic, symptoms usually are more likely to be present and more severe with larger tongue enlargements. Signs and symptoms include:
- Dyspnea – difficult, noisy breathing, obstructive sleep apnea or airway obstruction This can be a cause of macroglossia if amyloid is deposited in the tissues of the tongue, which gives it a nodular appearance. Beckwith–Wiedemann syndrome is a rare hereditary condition, which may include other defects such as omphalocele, visceromegaly, gigantism or neonatal hypoglycemia.
The tongue may show a diffuse, smooth generalized enlargement. The tongue has a papillary, fissured surface. neurofibromatosis, Simpson–Golabi–Behmel syndrome, Triploid syndrome, trisomy 4p, fucosidosis, alpha-mannosidosis, Klippel–Trénaunay syndrome,
Diagnosis
Macroglossia is usually diagnosed clinically. Some propose a distinction between true macroglossia, when histologic abnormalities correlate with the clinical findings of tongue enlargement, and relative macroglossia, where histology does not provide a pathologic explanation for the enlargement. Common examples of true macroglossia are vascular malformations, muscular enlargement and tumors; whilst Down syndrome is an example of relative macroglossia. The Myer classification subdivides macroglossia into generalized or localized.
Treatment
Treatment and prognosis of macroglossia depends upon its cause, and also upon the severity of the enlargement and symptoms it is causing. No treatment may be required for mild cases or cases with minimal symptoms. Speech therapy may be beneficial, or surgery to reduce the size of the tongue (reduction glossectomy). Treatment may also involve correction of orthodontic abnormalities that may have been caused by the enlarged tongue. Macroglossia has been reported to have a positive family history in 6% of cases. The National Organization of Rare Disorders lists macroglossia as a rare disease (fewer than 200,000 individuals in the US).