Rare Neurology News

Disease Profile

Macroglossia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

-

ICD-10

Q38.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Enlarged tongue; Giant tongue; Congenital macroglossia

Categories

Congenital and Genetic Diseases; Mouth Diseases

Summary

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]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Macroglossia
Abnormally large tongue
Increased size of tongue
Large tongue

[ more ]

0000158

Cause

Macroglossia can be associated with a wide range of congenital (present from birth) and acquired conditions, or it can occur as an isolated feature (with no other abnormalities). In most cases, it is due to vascular malformations (blood vessel abnormalities) and muscular hypertrophy (an increase in muscle mass).[3]

Congenital or inherited causes of macroglossia may include various syndromes (e.g. Beckwith-Wiedemann syndrome or Down syndrome); hemangioma; congenital hypothyroidism; mucopolysaccharidosis; and neurofibromatosis.

Acquired causes may include metabolic or endocrine conditions such as hypothyroidism, amyloidosis, and acromegaly; inflammatory/infectious diseases such as pemphigus vulgaris, diphtheria, tuberculosis, and sarcoidosis; and trauma.

Neoplastic conditions (involving abnormal or uncontrolled cell growth) may also cause macroglossia, such as lymphangioma or various malignancies (cancers).[3]

In some cases, macroglossia occurs as an isolated hereditary trait that is inherited in an autosomal dominant manner.[1]

Treatment

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.[3]

More detailed information about the treatment options for macroglossia is available on Medscape Reference's Web site.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.

References

  1. Macroglossia. NORD. 2005; https://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;
  3. Talib Najjar. Macroglossia. Medscape Reference. March 25, 2015; https://emedicine.medscape.com/article/873658-overview.

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