Also known as: enlarged tongue

What is macroglossia?

Macroglossia is the medical term for when a child is born with an enlarged tongue. It is one of the most common features of Beckwith-Wiedemann Syndrome (BWS), affecting around 90 percent of children with the congenital disorder. If left untreated, macroglossia can lead to dental-skeletal deformities including open bite, crossbite, and jaw problems.

What are the causes of Macroglossia?

Children with macroglossia have tongues that are disproportionately large for their mouths. In some cases, the tongue may protrude from the mouth and interfere with the child’s tooth placement, ability to eat, and/or speech development. Most who are born with macroglossia can be linked to conditions such as Beckwith-Wiedemann syndrome or Down syndrome, and in some cases can form from cancer or severe infections. Macroglossia diagnosis focuses on determining its underlying cause. 

What are macroglossia symptoms?

Symptoms include an enlarged and thick tongue that may protrude from the mouth. Additional symptoms include:

  • Difficulty eating or drinking (dysphagia)
  • Drooling
  • Difficulty speaking
  • Noisy, high-pitched breathing (stridor)
  • Snoring or low-pitched breathing (stertor)
  • Abnormal growth of jaws and teeth
  • Frequently biting or injuring your tongue

Treatment options for Macroglossia

In some cases, the symptoms may not be severe enough to require surgery. However, our surgical program for the treatment of macroglossia is highly respected as one of the few teams in the world specializing in the W-cut procedure (anterior lingual tongue reduction).

If your child’s macroglossia is caused by Beckwith-Wiedemann, it is important to manage the full set of symptoms associated with the disorder. Children with BWS need to be screened regularly for malignancy as they are at an increased risk of cancers like Wilms' tumor (nephroblastoma), pancreatoblastoma, and hepatoblastoma.

Screening protocols may vary, but we usually recommend that children under the age of eight have an abdominal ultrasound every three months. We also suggest annual blood tests for BWS patients to measure alpha-fetoprotein (AFP) until they are at least four years of age. 

When to call a doctor?

Consult with a specialist when the patient presents symptoms including tongue swelling, discoloration, pain, impaired speech or swallowing, frequent unintended biting of the tongue, or the onset or exacerbation of snoring.

Reviewed by: Chad Perlyn, MD

This page was last updated on: April 25, 2024 03:26 PM

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