Living with Congenital macroglossia
A rare condition present from birth in which the tongue is larger than usual and may stick out.
Understanding Congenital macroglossia
It develops before birth and can be caused by overgrown muscle, enlarged adenoid tissue, or a blood vessel malformation. It may happen on its own or along with genetic syndromes. A large tongue can make swallowing, breathing, and chewing harder, and can cause drooling. It can also affect the teeth and jaw, causing problems like malocclusion (a bad bite) and an open bite.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Abnormally large tongue (macroglossia)
- Trouble swallowing
- Trouble breathing
- Trouble chewing
- Drooling
- Bite and jaw changes
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
GARD says changes in genes cause this condition. It can occur on its own or as part of a genetic syndrome.
Also known as: congenital hypertrophy of 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 Congenital macroglossia.
Explore research for Congenital macroglossia
Explore actively recruiting Congenital macroglossia studies with HealthSpark.
Find actively recruiting studies for Congenital 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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