Macroglossia

Posted August 1, 2022 by Anusha ‐ 4 min read

Macroglossia, sometimes called as giant tongue or enlarged tongue, is a rare condition that is typically seen more in childrens than adults. Most people have macroglossia because they have other conditions, such as 'Beckwith-Wiedemann syndrome' or 'Down syndrome'. Treatment for macroglossia varies depending on the underlying causative factor.

What is macroglossia?

  • Macroglossia or enlarged tongue is a rare condition that typically affects more children than adults.

  • People with macroglossia have tongues that are larger than typical, given the size of their mouths. Most people are born with macroglossia that can be linked to conditions such as Beckwith-Wiedemann syndrome or Down syndrome.

  • People can also develop macroglossia from some forms of cancer or severe infections.

  • Macroglossia treatment ranges from speech therapy to surgery.

How to know if I have macroglossia?

If you have macroglossia, your tongue may stick out of your mouth. You may also have trouble eating, breathing or talking. You can develop macroglossia if you have infections or certain cancers. If your child has macroglossia, these symptoms may be one of several caused by an underlying inherited condition.

Is macroglossia common?

It’s hard to say how many people have macroglossia. Usually, macroglossia is a symptom of many different medical conditions, and not everyone who has these conditions develops macroglossia.

What are macroglossia symptoms?

An oversized tongue that’s always sticking out may be the most obvious and common macroglossia symptom. Other symptoms are as follows

  • Noisy, high-pitched breathing also called as stridor.

  • Snoring or low-pitched breathing also called as stertor.

  • Difficulty eating or drinking also called as dysphagia.

  • Drooling.

  • Difficulty speaking.

What are the causes of macroglossia?

Macroglossia has several causes. Very rarely, people are born with oversized tongues but no other medical problems. More frequently, macroglossia is a symptom of an underlying condition that people either inherit or acquire through illness. Some surgeries and medical treatments may also cause macroglossia.

What inherited conditions can cause macroglossia?

Macroglossia is linked to several inherited conditions. Here’s information on a few of those conditions

Beckwith-Wiedemann syndrome

This is a growth disorder syndrome that causes large body size, large organs and can increase children’s risk for developing certain childhood cancers. Approximately 90% of children who have Beckwith-Wiedemann syndrome also have macroglossia.

Hunter syndrome (mucopolysaccharidosis)

This is a group of diseases that affects the body’s ability to break down sugar molecules.

Down syndrome

People with Down syndrome are born with an extra chromosome, which changes the way their brain and body develop, creating and physical and mental challenges.

What acquired conditions might cause macroglossia?

Acquired causes may include metabolic or endocrine conditions, like hypothyroidism or infections, such as diphtheria. Some acquired conditions that cause macroglossia include:

Amyloidosis

This is a protein disorder that keeps tissues and organs from working as they should. Macroglossia is the most common oral symptom of amyloidosis.

Hypothyroidism

This is a common condition where your thyroid doesn’t create and release enough thyroid hormone into your bloodstream. This makes your metabolism slow down. Hypothyroidism is a common cause of macroglossia in children.

Acromegaly

This is a rare condition that causes your body to release too much growth hormone. People with acromegaly often have oversized tongues, jaws, hands and feet.

Diphtheria

This is an infectious disease that may cause your tongue to swell.

What tumors can cause macroglossia?

Macroglossia can be a symptom of several benign and cancerous tumors, including the following

  • Lymphangioma: This is a benign tumor that develops in the lymphatic system, causing fluid-filled cysts on the mucous membranes in the mouth.

  • Hemangioma: These are benign tumors that grow from blood vessels.

  • Lymphoma: This cancer affects the lymphatic system.

How to diagnose macroglossia?

First, your healthcare provider will do a physical examination, checking your or your child’s tongue, head and neck. They may use a combination of tests to diagnose macroglossia and any underlying conditions.

Those tests may include the following

Computed tomography (CT) scan

CT scans use a series of X-rays and a computer to create three-dimensional (3D) images of your or your child’s mouth, head and neck.

Magnetic resonance imaging (MRI)

This is a painless test that uses a large magnet, radio waves and a computer to produce very clear images of organs and structures within your or your child’s body.

How to treat macroglossia?

In some instances, children who have macroglossia outgrow the condition in which the bones in their face grow and their mouths have room for their tongues.

When healthcare providers treat macroglossia, they start with diagnosing and treating the underlying condition, then treating macroglossia.

Macroglossia treatments may include the following

  • Medication such as corticosteroids for swelling.

  • Orthodontic treatment.

  • Surgery - About 10% of people treated for macroglossia have surgery to reduce the size of their tongues.

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