Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Macroglossia


Other Names for this Disease
  • Enlarged tongue
  • Giant tongue
  • Congenital macroglossia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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.[1] 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.[2][1] 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.[1] Treatment depends upon the underlying cause and severity and may range from speech therapy in mild cases, to surgical reduction in more severe cases.[2]
Last updated: 9/16/2015

References

  1. Macroglossia. NORD. 2005; http://rarediseases.org/rare-diseases/macroglossia/.
  2. Glenn C Isaacson. Congenital anomalies of the jaw, mouth, oral cavity, and pharynx. UpToDate. Waltham, MA: UpToDate; August, 2015;
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Macroglossia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Enlarged tongue
  • Giant tongue
  • Congenital macroglossia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.