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Amelogenesis Imperfecta

Last updated May 7, 2019

Approved by: Krish Tangella MD, MBA, FCAP

Peter JM Crawford, Michael Aldred, Agnes Bloch-Zupan.

Image of an individuals teeth showing Amelogenesis imperfecta, hypomineralised type.

What are the other Names for this Condition? (Also known as/Synonyms)

  • Hereditary Brown Enamel
  • Hereditary Brown Opalescent Teeth
  • Hereditary Enamel Dysplasia

What is Amelogenesis Imperfecta? (Definition/Background Information)

  • Amelogenesis Imperfecta (AI) is an inherited disease that causes an abnormal formation of the teeth. The condition affects the outer portion of the teeth, causing them to be very thin
  • In Amelogenesis Imperfecta, the teeth are very fragile and break easily. The affected teeth are abnormal in color with irregular shape and texture
  • It is an inherited disorder that is usually present during the early stages of life
  • However, the condition has a good prognosis because it responds very well to treatment

Who gets Amelogenesis Imperfecta? (Age and Sex Distribution)

  • Amelogenesis Imperfecta is a genetic disorder that presents during early childhood. The condition can progress and continue into adulthood
  • It affects both the male and female sex equally
  • The condition is observed worldwide. There are no studies to indicate that it occurs in a particular category of racial or ethnic group

What are the Risk Factors for Amelogenesis Imperfecta? (Predisposing Factors)

  • Amelogenesis Imperfecta is an inherited genetic disorder with a positive family history
  • Children are at risk, if their parent(s), family members, or close relatives have the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Amelogenesis Imperfecta? (Etiology)

Amelogenesis Imperfecta arises due to a congenital defect.

  • Current research has shown that there are several genes that are responsible for the normal formation of teeth
  • In Amelogenesis Imperfecta, one or several of these genes is mutated, causing this condition to develop. The mutated genes prevent the teeth from producing the necessary substances, which help protect and preserve healthy teeth
  • The abnormal genes are inherited from either of the parents. Nonetheless, though the condition is generally passed on within the family, it can also occur randomly without any incidence of a positive family history

What are the Signs and Symptoms of Amelogenesis Imperfecta?

The signs and symptoms that are seen in Amelogenesis Imperfecta include:

  • Malformed teeth that are too thin
  • Change in teeth color from yellow to dark brown
  • Teeth with irregular shape and abnormal texture
  • Unsealed or exposed areas
  • Erosion and abrasion along the edge of the affected tooth
  • Teeth appear small with no proper alignment
  • Extreme tooth sensitivity to hot or cold liquids
  • Pain in the mouth due to secondary infections

How is Amelogenesis Imperfecta Diagnosed?

Amelogenesis Imperfecta is diagnosed mainly from the patient history and physical examination.

  • Patient history is very crucial in this condition, especially with respect to a family history or prior history of AI
  • Examination of the teeth will help evaluate the condition and its severity
  • Amelogenesis Imperfecta can be diagnosed through x-rays, as well as using other forms of imaging studies, to evaluate how much it has progressed
  • It is important to complete a genetic screening test to confirm that the disorder resulted from an abnormal gene

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Amelogenesis Imperfecta?

The possible complications associated with Amelogenesis Imperfecta are:

  • Fragile teeth that break very easily
  • Change in teeth shape and color, making the condition hard to treat, if an early diagnosis is lacking
  • Secondary bacterial or viral infections

How is Amelogenesis Imperfecta Treated?

The treatment for Amelogenesis Imperfecta is based on the severity and depth of damage that has developed in the teeth.

  • In general, certain basic precautions, such as ensuring that all the teeth are completely sealed and no cracks are present, are important
  • A sealant can be applied if there are cracks, pits, or exposed areas
  • Orthodontists will help to evaluate and examine the condition of the teeth before deciding how to restore and maintain regular shape, proper alignment, and healthy teeth
  • In the case of extremely thin teeth, a crown can be placed to preserve the teeth and prevent further stress and damage. Crowns may also help combat the problems of increased tooth sensitivity
  • In case of severe damage to the teeth, it may be necessary to completely remove the teeth, or implants may be needed

Eating a low sugar diet and practicing good oral hygiene will also help against developing cavities.

How can Amelogenesis Imperfecta be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Amelogenesis Imperfecta, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
  • Also, maintaining regular and proper oral hygiene can ensure that the mouth, tongue, and teeth remain clean.

What is the Prognosis of Amelogenesis Imperfecta? (Outcomes/Resolutions)

The prognosis for Amelogenesis Imperfecta is excellent, as there are treatment options available to restore and maintain healthy teeth.

Additional and Relevant Useful Information for Amelogenesis Imperfecta:

Currently, there are no statistical studies available that mention the incidence of Amelogenesis Imperfecta. However, it is approximated that about 1 in 700 people of Swedish descent, and 1 in 14, 000 people within the United States are likely to develop the condition.

What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 17, 2015
Last updated: May 7, 2019