December 23rd, 2025

Amelogenesis imperfecta (AI) is a genetic dental condition that affects the enamel, the hard outer layer that protects your teeth. AI is caused by a malfunction of proteins in your genes, leading to absent or abnormal enamel formation. The malformation is due to genetic mutations inherited from the parents.  Inadequate enamel can lead to weak and discolored teeth, increasing your potential risk of oral health issues, like cavities. Please continue reading this blog to learn more about AI.

Causes of Amelogenesis Imperfecta

A gene functions as the blueprint that helps develop proteins and, over time, bigger structures within your body. If genetic mutations or any other defects alter the gene's details, the resulting protein might not work correctly.

AI affects proteins that your body uses to produce enamel. These proteins are as follows:

  • Amelotin
  • Amelogenin
  • Ameloblastin
  • Enamelin
  • Tuftelin
  • Kallikrein
  • Dentine sialophosphoprotein
  • Matrix metalloproteinase

Amelogenesis imperfecta may display varying patterns based on the altered gene. Most cases are due to mutations within the FAM83H gene and could be inherited through an autosomal pattern. It is a form of inheritance, meaning that one copy of the modified gene is enough to cause amelogenesis imperfecta.

If the disorder is related to ENAM gene mutations, it is considered an autosomal inheritance pattern.

AI may also be acquired through a recessive pattern associated with MMP20 and ENAM mutations. Autosomal inheritance means that two copies of the gene in every cell are modified. The parents of any individual with this condition each have a copy of the mutated gene, but they do not exhibit signs of the autosomal recessive condition.

Approximately 5 percent of AI cases are attributed to AMELX gene alterations and are acquired through an X-related pattern. A condition becomes X-related if the modified gene that is attributed to the disorder is positioned along the X chromosome. In many cases, males with X-related AI suffer more serious issues than females with a similar condition.

Other cases of AI can be due to gene modifications and could occur even in individuals with no family record of the dental disorder.

Different Types of AI

Here are the four main categories of AI:

  • Hypoplastic — Hypoplastic is characterized by smaller crowns of your teeth than usual. The enamel has pits and grooves. The teeth often have an open bite, which prevents your teeth from meeting. The teeth are discolored, with color varying from off-white to yellow-brown.
  • Hypomaturation — Hypomaturation refers to a condition where the tooth enamel is discolored, has a rough texture that can be sore and tender. While the enamel has normal thickness, it is either scraped or chipped away. The enamel may be brittle or soft, making it susceptible to damage and sensitivity. Typically, patients with hypomaturation have an open bite.
  • Hypocalcified—Similar to the characteristics found above, hypocalcified enamel is more chalk-like, and tartar tends to accumulate fast. The tooth enamel is soft and can be damaged quickly.
  • Hypomaturation-hypoplasia with taurodontism — Taurodontism occurs when the pulp chamber, inside the root of your tooth, becomes larger than usual. The condition is characterized by teeth that are smaller and discolored with some spots. The tooth enamel is thinner with pits.  

How to Tell You Suffer from Amelogenesis Imperfecta: Signs

Here are the signs and symptoms of amelogenesis imperfecta:

  • Abnormal tooth growth
  • Extreme tooth sensitivity
  • Thin, brittle or soft enamel
  • Lumpy, uneven or ridged teeth
  • Teeth discoloration that is brown, yellow, grey or white (snow-capping)
  • Misaligned jaws or open bite

Additional risk factors and complications associated with amelogenesis imperfecta include the following:

  • Excessive buildup of tartar
  • Caries or cavities
  • Gum inflammation
  • Tooth chipping or cracking
  • Tooth decay
  • Tissue and bone infections in the areas surrounding your teeth

Diagnozing Amelogenesis Imperfecta

The AI diagnosis involves the following:

  • Assessing your medical history — Your dentist will review your personal and family medical background for valuable insights into any potential genetic factors.
  • Clinical exams — The dental professional will visually evaluate your teeth and their shape and color for any visible defects.
  • X-rays — Your dentist can also use X-ray imaging to diagnose amelogenesis imperfecta. X-rays can reveal the density and thickness of the underlying enamel, enabling your dentist to design an appropriate treatment plan.
  • Genetic testing — Your dentist can perform genetic testing to determine the specific type of amelogenesis imperfecta.

Various Types of Differential Diagnosis

When diagnosing amelogenesis imperfecta, orthodontists may want to rule out other possible causes that could result in similar symptoms. Some of the differential diagnoses they use are as follows:

  • Dental fluorosis — The most common alternative explanation for enamel issues is fluorosis. A certain amount of enamel exists during birth, but the body produces additional enamel at different stages within the first 12 months of life. If your child ingests significant amounts of fluoride during infancy, possibly due to drinking water with high fluoride levels or swallowing fluoride toothpaste, their enamel development might be disrupted. In mild to severe cases, this may cause stains on the teeth, malformation, or brittleness, with some teeth completing development at different periods being unaffected.
  • Molar-incisor hypomineralization (MIH)  — The MIH dental condition causes the tooth enamel of your incisors and initial molars to have no enamel and discoloration.
  • Excessive acidity  — Acidity could also affect the preservation of your enamel. Chronic vomiting throughout the first 12 months of life could weaken a person’s tooth enamel development, leading to symptoms akin to amelogenesis imperfecta.

Your dentist may also consider different syndromes that could be associated with amelogenesis imperfecta. For example, tricho-dento-osseous syndrome (TDS) symptoms are identical to those of amelogenesis imperfecta.

Treatment Options

The dental professional can recommend different treatments based on your teeth’s condition and whether the teeth requiring treatment are permanent or baby teeth.

Many individuals with AI require a variety of treatments to safeguard their teeth, improve their teeth's functionality, and enhance their appearance.

Here are the potential treatment options:

Dental Bonding

Bonding involves the use of high-density plastics, also called porcelain or resins, which dentists bond to teeth to fill gaps.  Dentists use the bonding treatment on people with amelogenesis imperfecta who have teeth that are hard enough to hold firmly to the bond.

Crown Restoration

A dental crown is a tooth-like shell that dentists place over existing teeth, making it an effective way to restore the shape of teeth.

In certain types of amelogenesis imperfecta, like hypomaturation and hypocalcification, the tooth’s enamel is so weakened that it cannot hold any bonded restoration. In this case, crowns are the most viable treatment option for restoring your teeth. The crowns could also prevent or address tooth decay.

Amelogenesis imperfecta patients, with the advice of their dentist, can have dental crowns designed from porcelain, gold or stainless steel. Adolescents and children can opt for permanent crowns after reaching early adulthood, after all their teeth have grown and become stable.

Orthodontic Treatments

Individuals with amelogenesis imperfecta often require orthodontic treatment, which involves dental appliances like braces and aligners. The purpose of these devices is not to straighten teeth but to correctly align them for restorations.

Braces align teeth by applying constant, gentle pressure to teeth until they move to the desired location.

Dental Dentures

If tooth damage is too severe, you may need a tooth extraction. Your dentist can then use dentures as a replacement for any missing teeth.

Dentures are artificial dental devices that resemble natural teeth. An overdenture or overlay denture is a form of denture that rests directly over your natural teeth. Overlay dentures are relatively cost-effective compared to other treatment options. Dentures could be a short-term or long-term dental treatment for patients with amelogenesis imperfecta.

Tooth Veneers

Dental veneers are little shells that cover your front teeth. The veneers resemble natural tooth enamel in appearance and feel.

The veneers bond directly to your teeth. They also conceal imperfections like gaps or chips. Most people use veneers to achieve a uniform smile makeover. Porcelain veneers are more durable, resistant to stains, and reflect like real teeth, while composite veneers are ideal for minor dental fixes and are easily repairable.

During your initial consultation, your dentist will examine your teeth and discuss your dental goals. Next, they take impressions of your teeth that dental technicians will use to make permanent veneers in the lab. They will also prepare your teeth by removing some enamel to ensure the veneer fits snugly without bulkiness. They will place temporary veneers to safeguard your teeth as you wait for permanent veneers.  During your next dental visit, the dentist will bond the permanent veneers using a special adhesive before curing them with light for strengthening.

Patients notice results immediately following placement.

Dental  Implants

Your orthodontist can recommend using dental implants if AI has damaged your teeth as a tooth replacement option.

Implants are little titanium or ceramic posts surgically placed in your jawbone to take the place of a missing tooth root. The materials are safe and friendly to your mouth tissue. With time, the implants fuse with your bone through a process known as osseointegration, establishing a stable foundation for a bridge, crown and denture.

An implant's main parts include the following:

  • Threaded post — The post is a false or artificial root, which the dentist places into your jawbone through a surgical procedure.
  • Abutment — An abutment is a small connector post that is attached to the post and extends into your gums and serves as the foundation for the artificial tooth.
  • Dental restoration — The restoration refers to a prosthetic that replaces or restores your teeth. Common implant restorations include bridges, crowns and dentures.

Implants can help restore your confidence and smile, enabling you to enjoy life's activities without hesitation.

The surgery is a customized procedure, not a one-size-fits-all matter. Here is what to expect during the dental implant surgical procedure:

  • Administer anesthesia — The anesthesia works as a numbing agent. If you want sedation, the orthodontist can also administer these medications.
  • Make a cut or incision — The dentist or orthodontist makes a cut in the gums to access the bone below to place the dental implant.
  • Jaw preparation — The orthodontist will utilize different specialized equipment to make a small opening in the jawbone. They will keep widening it until it is the proper size to fit your new implant.
  • Fixing the implant—Next, the orthodontist will carefully fix the implant in its proper jaw position.

Tips to Take Care of Your Teeth

Here are additional measures for taking excellent care of yourself:

  • You should visit your dentist for dental checkups twice a year. During the visit, the dentist can perform professional dental cleaning and advise you on the proper dental hygiene routine.
  • Oral health hygiene—Ensure you brush at least twice a day with desensitizing toothpaste and a soft-bristled toothbrush. You should also floss daily.
  • Healthy diet — Foods rich in vitamins A and D are excellent for the enamel. Foods and beverages rich in calcium, like dairy products, also help your teeth and overall health. Avoid drinking or eating anything that can potentially harm your teeth, such as sticky foods, hard foods, and acidic or sugary foods and drinks.
  • Use your pain medications — Schedule a dental appointment if you experience any tooth pain. While over-the-counter pain medications can offer temporary pain relief, they do not provide a permanent solution, and you should consult a seasoned dentist. Common painkillers include ibuprofen and acetaminophen.

Find a Competent Dentist Near Me

Patients with AI experience enamel fractures or rapid tooth loss and alterations in the enamel's shape, color, or thickness, factors that can compromise tooth functionality and aesthetic appearance.  The condition can affect both adult teeth and baby teeth. Its symptoms manifest early, and teeth are more likely to suffer from excessive plaque accumulation, gum overgrowth, rapid wear, and tooth decay. 

If you believe you or your loved one has a dental enamel defect, please contact Lasting Impressions Dental Spa at 818-751-5100 for an evaluation. Our Encino-based dentists can work with you to develop the best treatment plan to reduce your risk of complications, improve your aesthetics, and improve your teeth's functionality. We can also perform relevant restorative or preventative treatment and educate you on how to care for your teeth while at home.