Definition

Amelogenesis imperfecta is a tooth development disorder. It causes the tooth enamel to be thin and abnormally formed. Enamel is the outer layer of the visible crown portion of the teeth.

Alternative Names

AI; Congenital enamel hypoplasia

Causes

Amelogenesis imperfecta is passed down through families as a dominant trait. That means you only need to get the abnormal gene from one parent in order to get the disease.

Symptoms

The enamel of the tooth is soft and thin. The teeth appear yellow and are easily damaged. Both baby teeth and permanent teeth can be affected.

Exams and Tests

A dentist can identify and diagnose this condition.

Treatment

The treatment depends on how severe the problem is. Full crowns may be necessary to improve the appearance of the teeth and protect them from further damage. Eating a diet that is low in sugar and practicing very good oral hygiene can reduce the chance of developing cavities.

Outlook (Prognosis)

Treatment is often successful in protecting the teeth.

Possible Complications

The enamel is easily damaged, which affects the appearance of the teeth, especially if left untreated.

When to Contact a Medical Professional

Contact your dentist if you have symptoms of this condition.

References

Dhar VK. Development and developmental anomalies of the teeth. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 353.

National institute of health website. Amelogenesis imperfecta. rarediseases.info.nih.gov/diseases/5791/amelogenesis-imperfecta. Updated August 2024. Accessed September 4, 2024.

Regezi JA, Sciubba JJ, Jordan RCK. Abnormalities of teeth. In: Regezi JA, Sciubba JJ, Jordan RCK, eds. Oral Pathology: Clinical Pathologic Correlations. 7th ed. St Louis, MO: Elsevier; 2017:chap 16.