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Living with Amelogenesis imperfecta type 2

A rare genetic tooth condition in which enamel is normal in thickness but soft, spotty, and easy to chip off.

Understanding Amelogenesis imperfecta type 2

Amelogenesis imperfecta type 2, also called hypomaturation amelogenesis imperfecta, is a rare genetic dental disorder.

The enamel is a normal thickness but is poorly mineralized and has a mottled look. The slightly soft enamel comes off the dentin (the layer under it) easily. X-rays show little contrast between enamel and dentin.

Signs & symptoms

GARD doesn't list specific symptoms for this condition yet. The summary describes soft, spotty enamel.

  • Soft, poorly mineralized enamel
  • Spotty-looking enamel
  • Enamel that detaches easily

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include genetic specialists and gum, teeth and mouth specialists.

  3. Ask 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
Bring these questions to your next doctor visit
Which dental treatments can protect my teeth?
Is genetic testing available for our family?
How often should my teeth be checked?

Quick facts

InheritanceAutosomal Recessive, X-Linked

GARD lists autosomal recessive and X-linked inheritance, but doesn't name a gene on this page.

Genetic

Also known as: amelogenesis imperfecta - hypomaturation; amelogenesis imperfecta hypomaturation type; amelogenesis imperfecta, hypomaturation type; hypomaturation amelogenesis imperfecta

Patient organizations

Rare-disease groups that can help

Source: NIH GARD · Amelogenesis imperfecta type 2GARD ID 8349 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Amelogenesis imperfecta type 2.

Explore the Amelogenesis imperfecta type 2 blog

Explore research for Amelogenesis imperfecta type 2

Explore actively recruiting Amelogenesis imperfecta type 2 studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Amelogenesis imperfecta type 2 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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