Living with Isolated congenital hypoglossia/aglossia
A rare condition present from birth in which the tongue is partly or fully missing, which can affect feeding, breathing, and speech.
Understanding Isolated congenital hypoglossia/aglossia
Babies may have trouble feeding and breathing. Later, speech may be delayed or slurred. Taste is not severely affected. Other features can include a small lower jaw, fewer teeth than usual (oligodontia), and a bite that does not line up (malocclusion). It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or missing tongue
- Feeding difficulties
- Breathing difficulties
- Delayed speech and language
- Small lower jaw (micrognathia)
- Small or missing fingers
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 (also called variants) cause this condition. It does not name specific genes or describe inheritance.
Also known as: hypoglossia with situs inversus
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 Isolated congenital hypoglossia/aglossia.
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