What is Amelogenesis Imperfecta? Cause, Symptoms, & Treatment

Tooth enamel is composed of several minerals like hydroxyapatite, making it the hardest tissue in the body. It helps create beautiful white smiles and plays the most crucial role in protecting the teeth’s inner layers which are more sensitive by nature.

Amelogenesis Imperfecta, also known as hereditary brown enamel or hereditary brown opalescent teeth or hereditary enamel dysplasia, is an inherited condition that disrupts the formation of the tooth enamel making it brown and brittle. It is caused by specific gene mutations that impede the normal process of the formation of enamel.


Although its effects are commonly noticed in the oral cavity, this condition also affects other parts of the body in rare cases. An absence of enamel on teeth can put you at a higher risk for several dental complications. Let’s understand the basics about the condition and the treatment options available.

What Is Amelogenesis Imperfecta?

Amelogenesis imperfecta is a hereditary or inherited defect that interrupts the process of formation of tooth enamel. This condition affects the enamel which is the outer most layer of the tooth and makes it very thin and fragile. The teeth look abnormal in color, texture, and shape. Though this condition is an inherited defect, it responds well to treatment and has a good prognosis.

Both the primary and permanent teeth can be affected by this condition. The National Institutes of Health’s Genetics Home Reference states that one in 14,000 people in the U.S. carries some form of Amelogenesis Imperfecta. (1) Amelogenesis imperfecta occur alone or as a part of a syndrome that affects other parts of the body. Most commonly the gene mutations are hereditary, i.e., they run in the family. But there are possibilities of occurrence of new gene alterations, even without a family history of the condition.

What does it look like?

In some cases, amelogenesis imperfecta is similar to hypocalcification of the tooth. According to the NIH, during both of these oral conditions, a soft enamel develops and eventually wears off the teeth leaving the underlying layer of dentin exposed. (2)

A hypoplastic form of this condition produces an abnormally thin layer of enamel, but the hardness of the enamel remains the same. The teeth appear small due to the thin enamel and are often discolored, pitted and prone to fracture.

What are the causes of Amelogenesis Imperfecta?

Amelogenesis Imperfecta arises due to a congenital disability. In this condition, one or several of the genes is mutated. These mutated genes impede the production of vital substances, which help protect and preserve healthy teeth. Since it is a hereditary condition, the abnormal genes are inherited from either of the parents. Although the state is generally passed on within the family, it can also occur randomly.

What are the signs and symptoms?

  • Thin malformed teeth
  • Change in the color of the teeth usually from light yellow to dark brown
  • Irregularly shaped teeth with abnormal texture
  • Exposed areas on the tooth
  • Erosion and abrasion of the tooth
  • Small teeth with no alignment
  • Sensitivity to hot or cold food
  • Secondary infections that cause pain in the mouth

How is Amelogenesis Imperfecta diagnosed?

A diagnosis mainly depends on a patient’s family history and clinical examination. Patient’s family history is very crucial in this condition. A clinical examination evaluates the severity of the condition. Amelogenesis Imperfecta is diagnosed through x-rays, as well as other imaging studies, to assess the progression.

A genetic screening test can be helpful to confirm that the disorder resulted from an abnormal gene. A healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the complications?

The complications associated with Amelogenesis Imperfecta are –

  • Brittle or fragile teeth that break easily
  • Change in the color and shape of the teeth, making the condition hard to treat
  • The incidence of secondary bacterial or viral infections


The treatment is based on the depth and severity of the damage that has developed in the teeth. If you notice that your child’s tooth hasn’t developed usually, talk to your dentist right away. A dental professional can easily diagnose this condition and work with you to discuss treatment options.

In many cases, full crowns can protect the teeth from damage, help to reduce sensitivity and improve the overall appearance. (3) When there is severe damage to the teeth, complete removal of the teeth and replacement by implants may be required.

An orthodontist will evaluate and examine the condition of the teeth to restore and maintain the regular shape, check the alignment, and keep healthy teeth.

Who gets Amelogenesis Imperfecta?

Amelogenesis Imperfecta is a hereditary condition that presents during early childhood. The condition can progress and continue into adulthood. Both the male and female are affected equally. This condition is prevalent worldwide.

What are the risk factors?

Amelogenesis Imperfecta is an inherited genetic disorder and thus has a positive family history. Children are at risk, if their parents, family members, or even close relatives have this disorder. A risk factor only increases one’s chances of being affected by this condition as compared to an individual without the risk factors.

It is important to note that a new gene mutation can increase the chances of an individual to be affected by this condition. Hence, it is always important to discuss the effect of risk factors with your healthcare provider.

Preventive measures

Genetic counseling will help to assess the risks, before planning for a child. Maintaining regular and proper oral hygiene can help stave off cavities and reduce ongoing tooth sensitivity in the interim. Flossing daily is a must, as well as regular dental check-ups and routine cleanings to remove any plaque and tartar build-up.


Take away message

A healthy diet which is low in sugars and rich in vitamins and minerals is beneficial. It will provide all the necessary nutrients that are required to strengthen the teeth. In general, certain necessary precautions, such as ensuring that all the teeth are completely sealed, and no cracks are present, are essential.

With the help of your dentist, your family can be on its way to a beautiful smile and a healthy mouth for life. Always follow a good oral health care regime to keep your teeth clean and healthy.


You May Also Like

What to do if You Face Bone Infection After Tooth Extraction?

Bone infections are a dangerous ailment that commonly occurs after tooth extraction. Bone infections often become the center of sepsis caused by bacteria, viruses, or fungi. The sepsis can often enter the bloodstream and spread to vital organs of the body.

Dental Conditions that can be Treated by Cosmetic Dentistry

Cosmetic dentistry can treat dental conditions like chipped tooth, crooked smile, gummy smile, missing teeth, tooth discoloration, receding gums, congenital abnormalities in the tooth, etc.

What is Cleft Lip Ultrasound? – Let’s Find Out

A routine ultrasound during pregnancy can detect cleft lip. If your child has a cleft lip, it can be stressful and upsetting. But an early diagnosis will help you to take some critical decisions related to your child's health.

What is a Submucous Cleft Palate? – Cause & Treatment

Submucous cleft palate (SMCP) occurs due to an abnormal fusion of the muscles of the soft palate when the baby is developing in utero. In the case of submucous cleft palate, the cleft is underneath the mucous membrane, which is the tissue that covers the palatal roof.

What is Cleft Lip and Cleft Palate?

A cleft lip is seen as a split commonly on the upper lip and a cleft palate is formed when tissues that make the roof of the mouth don’t close together.

More Articles Like This