Living with Macroglossia
An unusually large tongue, which can affect eating, speech, and breathing.
Understanding Macroglossia
It usually happens because of another condition that is present from birth or develops later. Rarely, it is the only feature and is present from birth. The tongue may stick out of the mouth. Symptoms can include drooling, speech problems, trouble eating, noisy breathing (stridor), snoring, and blocked airways.
Signs & symptoms
GARD doesn't list a separate symptom list, but its summary describes these possible symptoms:
- Drooling
- Speech problems
- Trouble eating
- Noisy breathing (stridor) and snoring
- Blocked airway
- Abnormal growth of the jaw and teeth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Macroglossia often comes from another condition, such as Down syndrome, Beckwith-Wiedemann syndrome, primary amyloidosis, or congenital hypothyroidism. Later causes include injury, cancer, hormone problems, and inflammation or infection. The isolated form present from birth can be genetic and inherited in an autosomal dominant way.
Also known as: abnormally large tongue; enlarged tongue; enlargement of tongue; giant tongue; glossal hypertrophy; hyperplasia of the tongue
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Macroglossia.
Explore research for Macroglossia
Explore actively recruiting Macroglossia studies with HealthSpark.
Find actively recruiting studies for Macroglossia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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