National Organization for Rare Disorders, Inc.
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.
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
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.
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.
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.
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.
Macroglossia may be an early sign of Acromegaly.
In people who have lost their teeth (edentulous), in the absence of dentures, enlargement of the tongue may occur.
In Moeller's Glossitis, the tongue is slick, glossy, or glazed. The lesions can be very distressing and persistent.
Median Rhomboid Glossitis is a developmental lesion of the tongue. This lesion consists of a smooth, reddish, nodular area on the back portion of the middle third of the tongue.
Hairy Tongue is characterized by yellowish, brownish, blackish or bluish discoloration of the tongue. Excessive growth of the threadlike elevations (filiform papillae) in front of the taste buds also occurs.
Geographic Tongue is an inflammation of the tongue that may go into remission and recur again. This form of inflammation is characterized by smooth areas on the tongue which may feel slightly sore and sometimes itchy.
Severe Acute Glossitis can be caused by local infection, burns, or injury to the tongue. This type of Glossitis may develop rapidly, producing marked tenderness or pain with swelling. In the most severe cases the swelling may be sufficient to cause the tongue to block air passages.
For more information on the above disorders, choose tongue, acromegaly, hairy tongue, and geographic tongue as your search terms in the Rare Disease Database.
Infants born with isolated autosomal dominant macroglossia present with the obvious sign at birth. A family history and physical exam can confirm the diagnosis.
The tongue may be reduced in size by surgery with remodeling of the mouth and orthodontic procedures.
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
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For information about clinical trials sponsored by private sources, contact:
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.
Macroglossia. Tongue Reduction Surgery. Beckwith-Wiedemann Support Group. nd. 2pp.
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
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Last Updated: 4/4/2005
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