Living with Amelogenesis imperfecta
A group of conditions in which tooth enamel doesn't form properly, leading to small, discolored, pitted, or fragile teeth.
Understanding Amelogenesis imperfecta
Teeth may come in later than usual and can be small, discolored, pitted, or grooved. The upper and lower teeth may not line up. People often have trouble eating, food and drink sensitivity, and pain when brushing. Teeth can wear down quickly, get cavities often, and break. It affects both baby and adult teeth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Discolored teeth
- Soft or weak tooth enamel
- Fragile teeth
- Trouble chewing
- Upper and lower front teeth that don't overlap (open bite)
- Thin or underdeveloped enamel
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 genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- 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 it is genetic. It lists autosomal dominant, autosomal recessive, and X-linked inheritance, but doesn't name a gene on this page.
Also known as: ai; ai - amelogenesis imperfecta; congenital enamel hypoplasia
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 Amelogenesis imperfecta.
Explore research for Amelogenesis imperfecta
Explore actively recruiting Amelogenesis imperfecta studies with HealthSpark.
Find actively recruiting studies for Amelogenesis imperfecta 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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