Living with Amelogenesis imperfecta type 2A1
An inherited tooth condition in which enamel is normal in thickness but soft, spotty, and easy to chip off.
Understanding Amelogenesis imperfecta type 2A1
Enamel is the hard outer layer that protects teeth. Here it is a normal thickness but not as hard as it should be, looks spotty, and can come off easily. On X-rays, the enamel and the dentin underneath look the same.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Poorly mineralized, soft enamel
- Yellow-brown teeth
- Cavities
- Upper and lower front teeth that don't overlap (open bite)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
Changes in the KLK4 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ai2a1; amelogenesis imperfecta caused by mutation in klk4; amelogenesis imperfecta pigmented hypomaturation type 1; amelogenesis imperfecta type iia1; amelogenesis imperfecta, pigmented hypomaturation type, 1; amelogenesis imperfecta, type iia1
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 2A1.
Explore research for Amelogenesis imperfecta type 2A1
Explore actively recruiting Amelogenesis imperfecta type 2A1 studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- 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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