Macroglossia – Causes, Meaning, in Newborn Baby, Hypothyroidism, Surgery, Down Syndrome

Macroglossia is a medical term describing an abnormally large tongue, which can lead to various functional and aesthetic issues. It can be a congenital disorder, part of congenital syndromes, or an acquired condition. Understanding macroglossia, including its causes, symptoms, and treatment options, is essential for both medical and dental professionals.

Key Facts

• Macroglossia refers to the condition where an individual has an abnormally large tongue
• The enlargement can be uniform or may involve just a portion of the tongue
• Macroglossia can be congenital (present at birth) or acquired later in life
• The condition can cause difficulties in speaking, eating, and breathing
• Macroglossia can sometimes be an indication of an underlying medical condition
• The management and treatment of macroglossia depend on the severity and underlying cause

What is Macroglossia?

Macroglossia is a medical term used to describe a condition where the tongue is larger than normal. This enlargement of the tongue can cause it to protrude from the mouth. Macroglossia occurs as a congenital condition, meaning it’s present at birth, or it can develop later in life due to various causes. The condition is not only characterized by the physical appearance but also by the functional difficulties it can cause, including problems with speech, chewing, swallowing, and in severe cases, even breathing.

How Do I Know if I Have Macroglossia?

Recognizing macroglossia involves observing both the appearance and functionality of the tongue. The tongue may appear visibly larger, and in some cases, may protrude from the mouth. Additionally, the individual may experience difficulties in speaking clearly or may have problems with eating, especially if the tongue impedes the normal chewing and swallowing process.
Moreover, indentations along the sides of the tongue due to constant pressure against the teeth, known as scalloping, may also be a sign. A healthcare provider or dentist can often diagnose macroglossia by conducting a thorough examination of the oral cavity and evaluating the patient’s symptoms.

What are Macroglossia Symptoms and Complications?

The symptoms of macroglossia can range from mild to severe, depending on the degree of tongue enlargement.
Common oral symptoms include:

• Enlarged tongue is the most obvious symptom, which can lead to difficulty eating, speaking, and maintaining oral hygiene.
• Difficulty in articulating words clearly, leading to speech problems.
• Feeding Difficulties, challenges in eating, particularly with chewing and swallowing, especially in infants with congenital macroglossia.
• Drooling or excessive salivation.
• Scalloping of the tongue’s edges.
• Breathing difficulties, especially when lying down. This includes obstructive sleep apnea due to airway obstruction caused by the enlarged tongue.
• Changes in the bite or the way the teeth align (misaligned teeth) due to the pressure from the enlarged tongue. The pressure of the large tongue can lead to dental malocclusion.
• Frequent accidental biting of the tongue.

Depending on the underlying condition, there may be other symptoms like enlarged tonsils, abnormal growth in the head and neck area, or issues with the lymph system. It is important to understand that macroglossia is not just defined by the size of the tongue but by the relationship between the tongue and the mouth’s size and how it affects the person’s ability to perform normal oral functions.

Is Macroglossia a Common Medical Condition?

Macroglossia is considered to be a relatively rare medical condition. However, its prevalence can vary depending on the population and the underlying causes. Since macroglossia can be both congenital and acquired, it may present at any age. Healthcare providers and dentists are well-aware of the condition, but it is not something that they encounter on a daily basis in their practices.

The etiology of macroglossia is multifactorial. It can be inherited .

What are the Causes of Macroglossia?

Macroglossia can result from a variety of factors, which can be broadly categorized into inherited as an autosomal dominant genetic trait and present as isolated true macroglossia or could be one of the features in inherited genetic syndromes (such as Beckwith Wiedemann syndrome, Down syndrome, and Pierre Robin syndrome, where macroglossia is a common oral symptom):
Inherited Genetic Conditions that Might Cause Macroglossia:

• Beckwith-Wiedemann Syndrome: This is a genetic disorder that results in overgrowth of various parts of the body, including the tongue.
• Down Syndrome: This is a genetic disorder that is often associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. It is also known to cause macroglossia in some cases.
• Congenital Hypothyroidism: This is a condition where an individual is born with an underactive thyroid. It can lead to delayed growth and development, and in some cases, an enlarged tongue.
• Mucopolysaccharidoses: These are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans. This can cause various symptoms, including macroglossia.
• Hormonal Disorders: Like those affecting the thyroid gland, can lead to enlarged organs, including the tongue.

Acquired Conditions that Might Cause Macroglossia:

• Amyloidosis: Abnormal Protein Accumulation in diseases like amyloidosis. This is a group of diseases where there is a buildup of proteins in the form of amyloid fibrils in tissues and organs. When it affects the tongue, it can cause macroglossia.
• Acromegaly: This condition is characterized by an excess of growth hormone in adults, usually due to a pituitary gland tumor. It can lead to the enlargement of various body tissues, including the tongue.
• Infections and Allergic Reactions: Certain infections can lead to swelling or muscular hypertrophy causing temporary swelling of the tongue. In some cases, infections or allergic reactions can cause swelling of the tongue leading to temporary macroglossia.
• Trauma: Trauma or injury to the tongue can cause swelling and temporary enlargement.
• Vitamin Deficiencies: Deficiency of certain vitamins, such as vitamin B12, can sometimes cause an enlarged tongue.
• Use of certain medications: Some medications can cause swelling or enlargement of the tongue as a side effect.
• Too Much Growth Hormone: Can result in overgrowth disorders leading to macroglossia.

Understanding the underlying cause of macroglossia is critical for its management and treatment. If you or someone you know is exhibiting signs of macroglossia, it is important to consult a healthcare provider for a comprehensive evaluation and appropriate intervention.

What Tumors Might Cause Macroglossia?

The presence of tumors can be one of the reasons behind macroglossia. These tumors can be benign or malignant and can contribute to the enlargement of the tongue.
Some of the tumors that might cause macroglossia include:

• Hemangiomas: These are noncancerous growths made up of blood vessels. They can occur in the tongue and cause it to enlarge.
• Lymphangiomas: Similar to hemangiomas, these are benign tumors but are made up of lymphatic vessels. These can also cause enlargement of the tongue if they develop within it.
• Neurofibromas: These are benign tumors that grow in the nervous tissue. They can cause macroglossia if they develop in the nerves within the tongue.
• Fibromas: These are benign tumors made up of fibrous or connective tissue. They can occur anywhere in the body including the tongue.
• Oral cancer: In some cases, oral cancer might manifest as a tumor in the tongue, causing its enlargement.
• Pleomorphic adenomas: These are benign tumors that commonly occur in the salivary glands but can also occur within the tongue.

How Do Healthcare Providers Diagnose Macroglossia?

Diagnosis of macroglossia usually involves a combination of physical examination and medical history.
The process might include:

• Physical Examination: The doctor will conduct a thorough examination of the mouth and tongue. The size, texture, and any abnormal growths or discoloration will be noted.
• Medical History: A detailed medical history may be taken to determine any genetic factors, trauma, or underlying health conditions that might be contributing to the enlarged tongue.
• Imaging Tests: In some cases, imaging tests such as X-rays, MRI, or CT scans might be used to get a detailed look at the structures in the mouth and neck.
• Biopsy: If a tumor is suspected, a biopsy might be performed where a small sample of tissue is taken from the tongue for examination under a microscope.

Macroglossia Treatment: How Do You Fix Macroglossia?

The treatment for macroglossia depends on the underlying cause:

• Surgical Procedures: Surgical correction of the tongue may be necessary in cases of severe macroglossia to alleviate symptoms and improve function. In cases where the macroglossia is caused by tumors or growths, surgery might be performed to remove these growths. In severe cases of macroglossia, reduction surgery, called reduction glossectomy, may be necessary to reduce the size of the tongue.
• Medication: If an infection or allergic reaction is causing the enlargement, medication such as antibiotics or antihistamines might be prescribed.
• Orthodontic Treatment: In some cases, especially if diagnosed early in children, orthodontic appliances might be used to guide the growth of the jaw and accommodate the size of the tongue.
• Speech and Swallowing Therapy: Can help manage speech difficulties. For patients who have difficulty speaking or swallowing due to the size of their tongue, therapy with a speech-language pathologist may be beneficial.
• Management of Underlying Conditions: Treating the thyroid hormone imbalances or other medical conditions that contribute to macroglossia. If macroglossia is a symptom of an underlying condition like hypothyroidism or vitamin deficiency, managing that condition can often alleviate the symptoms.
• Conservative Management: In mild cases or relative macroglossia, conservative management focusing on speech therapy and monitoring may be sufficient.

Since macroglossia can have various causes and associated complications, it is important to work closely with a medical professional to develop an appropriate treatment plan.

How Can I Reduce My Child’s Risk for Developing Macroglossia?

Reducing the risk of macroglossia in children involves addressing factors that may contribute to its development:

• Prenatal Care: Proper prenatal care is essential for preventing a range of congenital conditions. Expecting mothers should adhere to their healthcare provider’s guidelines, which might include taking the appropriate vitamins, avoiding alcohol and tobacco, and managing underlying health conditions.
• Genetic Counseling: If there’s a family history of genetic disorders that can cause macroglossia, such as Beckwith-Wiedemann syndrome, genetic counseling before or during pregnancy may be beneficial.
• Prompt Treatment of Infections: Ensure that any infections in the child, particularly oral infections, are promptly and adequately treated, as infections can sometimes contribute to the development of macroglossia.
• Monitoring Allergies: If the child has allergies, ensure that they are properly managed to prevent allergic reactions which can cause swelling in the tongue.
• Regular Dental Checkups: Regular visits to a pediatric dentist can help in the early detection of any abnormalities in the oral cavity, including an enlarged tongue.

What Can I Expect If My Child Has Macroglossia?

If your child is diagnosed with macroglossia, here’s what you can expect:

• Comprehensive Evaluation: Your child will likely undergo a comprehensive evaluation including a physical exam and possibly imaging studies to determine the severity and underlying cause of the condition.
• Multi-disciplinary Approach: The management of macroglossia often involves a team of specialists including a pediatrician, oral surgeon, orthodontist, and possibly speech therapists.
• Treatment Plan: Based on the cause and severity, a treatment plan will be developed. This might include surgery, orthodontic treatment, medication for infections or allergies, or speech therapy.
• Regular Monitoring: Regular follow-ups will be necessary to monitor your child’s condition and make sure that the treatment is effective.
• Speech and Eating Adjustments: Depending on the severity of the macroglossia, your child might have difficulties with speech or eating. Speech therapy, dietary changes, or the use of special feeding utensils might be recommended.
• Emotional Support: Having macroglossia can be emotionally challenging for a child, especially if it affects their appearance or ability to speak clearly. Providing emotional support and encouragement is crucial.
• Long-term Outlook: The long-term outlook for a child with macroglossia varies depending on the underlying cause and the effectiveness of the treatment. In many cases, with proper treatment and management, children with macroglossia can lead normal lives.

It’s important to communicate openly with the healthcare team and to follow the treatment plan closely. Providing a supportive environment for your child and helping them to cope with any challenges is also essential.

When Should My Child See Their Healthcare Provider?

It’s important for your child to see a healthcare provider if you notice any of the following:

• Enlarged Tongue: If you observe that your child’s tongue seems unusually large compared to their mouth.
• Difficulty Speaking or Eating: If your child is having trouble speaking clearly or is struggling to eat due to the size of their tongue.
• Breathing Issues: If your child seems to have difficulty breathing, especially during sleep, which might be indicated by snoring or pauses in breathing.
• Changes in Tongue Appearance: If you notice any changes in the appearance of your child’s tongue, such as unusual color, texture, or markings.
• Pain or Discomfort: If your child complains of pain or discomfort in their mouth or tongue.
• Recurring Infections: If your child seems to have recurring infections in the mouth or throat.

What Questions Should I Ask My Doctor?

When you visit the healthcare provider regarding your child’s condition, it’s important to ask questions to understand the situation better.
Here are some questions you might consider asking:

• What is the likely cause of my child’s macroglossia?
• Are there any tests that need to be done to confirm the diagnosis?
• What are the treatment options available for my child’s condition?
• Will my child need surgery? If so, what does the procedure involve?
• Are there any risks or side effects associated with the recommended treatments?
• How can I help my child manage symptoms at home?
• What steps can we take to prevent future issues related to macroglossia?
• Will this condition affect my child’s speech or eating habits?
• Does my child need to see a specialist such as an orthodontist or speech therapist?
• What is the long-term outlook for my child?

Bottom Line

Macroglossia, or enlargement of the tongue, can have various causes including genetic factors, infections, and allergies. It’s important to be vigilant and seek medical attention if you notice any signs or symptoms in your child. The management of macroglossia may involve a combination of surgical and non-surgical treatments, and early intervention can be crucial in preventing complications and ensuring a better quality of life for your child. Engage with your child’s healthcare provider to understand the condition, its implications, and the available treatment options. Being proactive in your child’s care and providing a supportive environment is essential in managing macroglossia.

This article is complete and was published on July 11, 2023, and last updated on December 22, 2023.