Macroglossia

Macroglossia

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Macroglossia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Enlarged Tongue
  • Giant Tongue

Disorder Subdivisions

  • Congenital Macroglossia

General Discussion

Macroglossia is the abnormal enlargement of the tongue. In rare cases, macroglossia occurs as an isolated finding that is present at birth (congenital). In many cases, macroglossia may occur secondary to a primary disorder that may be either congenital (e.g., Down syndrome or Beckwith-Wiedemann syndrome) or acquired (e.g., as a result of trauma or malignancy). Symptoms and physical findings associated with macroglossia may include noisy, high-pitched breathing (stridor), snoring, and/or feeding difficulties. In some cases, the tongue may protrude from the mouth. When inherited, macroglossia is transmitted as an autosomal dominant genetic trait.

Symptoms

Macroglossia is a disorder characterized by a tongue that is large in proportion to other structures in the mouth. In the congenital type of the disorder, protrusion of the tongue from the mouth may interfere with feeding of the infant. Later, talking may be affected. The large size of the tongue may also cause abnormal development of the jaw and teeth, resulting in misaligned or protruding teeth. Ulceration and dying tissue on the tip of the tongue may be other symptoms of the disorder.

Causes

Macroglossia may be found in individuals affected by certain inherited or congenital disorders including Beckwith-Wiedemann syndrome, acromegaly, primary amyloidosis, congenital hypothyroidism, Down syndrome, Apert syndrome, and many others.



Macroglossia may also be a sign of certain acquired disorders, including malignancies, metabolic/endocrine disorders, and inflammatory or infectious diseases.



In rare cases, macroglossia is an inherited disorder not associated with any other cause, either congenital or acquired. In such instances, the disorder is genetically transmitted as an autosomal dominant trait.



Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Affected Populations

Isolated autosomal dominant macroglossia is very rare, with about 50 cases reported in the medical literature. The prevalence in other instances depends on the underlying disorder for which the macroglossia is secondary. For example, macroglossia occurs in most cases of Beckwith-Wiedemann syndrome, and the prevalence of that syndrome is estimated at 1 in 17,000 births.

Standard Therapies

Diagnosis

Infants born with isolated autosomal dominant macroglossia present with the obvious sign at birth. A family history and physical exam can confirm the diagnosis.



Treatment

The tongue may be reduced in size by surgery with remodeling of the mouth and orthodontic procedures.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

JOURNAL ARTICLES

Boyd D, Quick A, Murray C. The Down syndrome patient in dental practice, Part II: clinical considerations. N Z Dent J. 2004;100:4-9.



Kieser J, Townsend G, Quick A. The Down syndrome patient in dental practice, part I: Pathogenesis and general and dental features. N Z Dent J. 2003;99:5-9.



Tei E, Tamataka A, Komuro Y, et al. Huge lymphangioma of the tongue: a case report. Asian J Surg. 2003;26:228-30.



GiancottiA, Romanini G, Docimo R, et al. Clinical treatment of oral manifestations of Beckwith-Wiedemann syndrome in a child. J Clin Pediatr Dent. 2003;27:377-80.



Hadban H, Gilbey P, Talmon Y, et al. Acute edema of the tongue: a life-threatening condition. Ann Otol Rhin Laryngol. 2003;112:651-53.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Macroglossia. Entry Number; 153630: Last Edit Date; 3/18/2004.



Macroglossia. Medical Encyclopedia. MedlinePlus. Update date: 6/30/2000. 2pp.

www.nlm.nih.gov/medlineplus/ency/imagepages/17246.htm



Macroglossia. Tongue Reduction Surgery. Beckwith-Wiedemann Support Group. nd. 2pp.

www.bws-support.org.uk/macroglossia.html

Resources

Smell and Taste Center

Smell and Taste Center

University of Pennsylvania

5 Ravdin Building

3400 Spruce Street

Philadelphia, PA 19104

Tel: (215)662-6580

Fax: (215)349-5266

Email: Geraldine.Fischer@uphs.upenn.edu

Internet: http://www.med.upenn.edu/stc/index.html



NIH/National Institute of Dental and Craniofacial Research

Building 31, Room 2C39

31 Center Drive, MSC 2290

Bethesda, MD 20892

USA

Tel: (301)496-4261

Fax: (301)480-4098

Tel: (866)232-4528

Email: nidcrinfo@mail.nih.gov

Internet: http://www.nidcr.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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