Living with Amelogenesis imperfecta type 1
A tooth condition (hypoplastic type) in which tooth enamel is thin, pitted, grooved, or missing.
Understanding Amelogenesis imperfecta type 1
The enamel may have pits and grooves, or it may be completely absent.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes enamel that is thin, pitted, grooved, or missing.
- Thin tooth enamel
- Pits and grooves in the enamel
- Enamel that is missing
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 lists autosomal dominant, autosomal recessive, and X-linked inheritance, but doesn't name a gene on this page.
Also known as: amelogenesis imperfecta - hypoplastic; amelogenesis imperfecta, hypoplastic type; hypoplastic amelogenesis imperfecta
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 type 1.
Explore research for Amelogenesis imperfecta type 1
Explore actively recruiting Amelogenesis imperfecta type 1 studies with HealthSpark.
Find actively recruiting studies for Amelogenesis imperfecta type 1 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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