Home Diseases What is Amelogenesis Imperfecta?

What is Amelogenesis Imperfecta?

by Robin Whyte

We are all aware of the importance of dental health. But, we are also all different too. Some people are lucky enough to have perfect teeth and a shiny white smile. Others may have some issues, but a few dentist visits will resolve them all.

Many people also go to the dentist’s office regularly, so they can maintain their perfect smile all the time, but sadly, some people have weaker teeth and are prone to dental issues more often than others.

Today, we will talk about a particular condition, that is pretty rare.

Are you noticing that your teeth are smaller than usual? Do you think discoloration is evident on them? Perhaps you get more cavities and gum diseases than expected. If so, you could have a rare, genetic tooth development disorder. It’s called Amelogenesis Imperfecta.

But before you panic, there are options available to you to help combat this condition. Before we get to that, let’s take a look at this condition, what causes it, and how rare it is.

Your Complete Guide to Amelogenesis Imperfecta

What is Amelogenesis Imperfecta?

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Amelogenesis Imperfecta is a rare, genetic tooth development disorder where the outer layer of the tooth, the enamel, fails to develop properly. This results in teeth being relatively smaller than regular teeth, becoming yellow or brown while also being prone to wear and tear. It can affect both children and adults.

Also, it can cause lower self-confidence and frustration, since chewing and eating can be affected too.

Reports indicate that there are close to 14 different types of Amelogenesis Imperfecta. But there are three common types:

  1. Hypoplastic – where there is enamel but not enough of it
  2. Hypomaturation – where the enamel has a normal thickness but is too soft
  3. Hypocalcified – similar to Hypomaturation, but this typically occurs in the early stages of the enamel’s formation

Symptoms of this condition include the following: consistent tooth decay, sensitive teeth (to both cold and hot), yellow and brown discoloration, and most noticeably, smaller than normal teeth.

As you suppose, this condition can be really frustrating, since there is no way to prevent it. The treatments are expensive too and require regular checks with the dentist.

Many people suffer due to the appearance of their smile, and they are ready to do everything to fix the issue, but also to be sure the result will be durable since the gums can be affected too.

The treatments are different, depending on the condition, but also on the age of the patient.

Treating this condition is a real challenge for professionals, but in many cases, the results are durable and require only regular cleaning and tiny interventions.

What Causes Amelogenesis Imperfecta?

Source: dentistrytoday.com

As Amelogenesis Imperfecta is a genetic disorder, the problem starts at the base of the genetics of the tooth. The key three genes for producing the protein that creates enamel in the teeth – AMELX, ENAM, or MMP20 – are mutated, resulting in Amelogenesis Imperfecta being present. A mutation in any one of these three genes can cause the outbreak of this condition.

It’s this mutation that results in Amelogenesis Imperfecta being passed down from adults to their children. In fact, according to NORD (National Organization for Rare Diseases), the risk of children developing this condition depends on the gene of the parents. If both parents have Amelogenesis Imperfecta, there is a chance the child will “​​have an affected child is 25% with each pregnancy.” There is also a “risk to have a child who is a carrier like the parents is 50% with each pregnancy”.

Knowing these facts, it’s really obvious why the treatment won’t give the wanted results. The good thing is that some of the damages can be repaired, and the whole condition to be better. It’s on the dentist to decide which approach to use.

But, the real problem comes when the durability is not as it was expected. We are talking about a genetic disorder, and no matter how hard the doctors try, they can only do corrections every now and then.

Also, the need for treatments depends on the level of the damage. Sometimes, people can have quality lives without any intervention, if the teeth are healthy enough to chew the food and don’t affect the physical appearance a lot.

So, the causes are genetic, and solutions are corrective. That’s why this rare condition causes big problems.

How Rare is It?

We conducted some research to determine how rare this type of condition is:

  • According to Healthline, it is “estimated to occur in just 1 out of every 14,000 people”
  • NORD offers similar numbers, mentioning that “1 of 14,000 to 16,000 children in the United States. Of this number, about 40% have the hypocalcified dominant type”
  • Medline Plus suggests that “estimates vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in the United States”

Overall, getting Amelogenesis Imperfecta is extremely rare compared to other dental issues and diseases.

What Treatment Options are Available?

Source: westbelldentalcare.com

The first thing you should do is visit your downtown dentist Dr. Tracey Mulhall so they can diagnose your teeth to determine if you have this condition. A full examination including dental x-rays will help guide your dentist on the right path.

As for treatment, there is no significant procedure or treatment that can help it. In many cases, patients will require tooth restoration, such as bonding, crown replacement or a root canal, and even dentures. This is due to the teeth being more likely to damage due to wear and tear.

Significantly, you will just have to take proactive care of your teeth to determine if wish not to feel the full effect of this condition. Going on a low-sugar diet, maintaining proper dental hygiene, and visiting your dentist regularly for check-ups and cleanings, can prove effective in reducing the effects of Amelogenesis Imperfecta.

What’s the Outlook Like?

Source: foresthillfamilydental.com

Ultimately, if you are proactive with your dental care and focus on maintaining your routine, you will be able to reduce the effects of this rare, but forceful disease. With consistent treatment and a daily dental routine, you can ensure your teeth maintain their pristine nature and support your mouth and gums.


It’s so easy to get frustrated due to the teeth condition because it affects our smile. And we all know that the smile is our most powerful weapon. Sometimes, some teeth conditions can be cute and can make the people recognizable due to that, but when it’s a risk for the overall health, it must be treated properly.

So, if you have Amelogenesis Imperfecta, we suggest you find a good dentist to control the development of the disease. According to that, they can suggest the right treatment, and help you bring back your confidence too.

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