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Genetic and Rare Diseases Information Center (GARD)

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Amelogenesis imperfecta


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Your Question

Although we have not been diagnosed, my children and I have symptoms of amelogenesis imperfecta.  Please tell me more about this condition, how it can be diagnosed, and if there is any cure or treatment available.  In addition, is there any financial assistance to help pay for repair?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is amelogenesis imperfecta?

Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth.[1] This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance.[1] AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.[2]
Last updated: 12/12/2013

What causes amelogenesis imperfecta?

Mutations in the AMELX, ENAM, and MMP20 genes cause amelogenesis imperfecta. The AMELX, ENAM, and MMP20 genes provide instructions for making proteins that are essential for normal tooth development. These proteins are involved in the formation of enamel, which is the hard, calcium-rich material that forms the protective outer layer of each tooth. Mutations in any of these genes alter the structure of these proteins or prevent the genes from making any protein at all. As a result, tooth enamel is abnormally thin or soft and may have a yellow or brown color. Teeth with defective enamel are weak and easily damaged.[2]

In some cases, the genetic cause of amelogenesis imperfecta has not been identified. Researchers are working to find mutations in other genes that are responsible for this disorder.[2]
Last updated: 8/1/2011

How is amelogenesis imperfecta inherited?

Amelogenesis imperfecta can have different patterns of inheritance, depending on the gene that is altered. Most cases are caused by mutations in the ENAM gene and are inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.[2]

Amelogenesis imperfecta may also be inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ENAM or MMP20 gene. Autosomal recessive inheritance means two copies of the gene in each cell are altered.[2]

About 5 percent of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with X-linked amelogenesis imperfecta experience more severe dental abnormalities than females with this form of this condition.[2]

Other cases of amelogenesis imperfecta result from new mutations in these genes and occur in people with no history of the disorder in their family.[2]
Last updated: 8/1/2011

How is amelogenesis imperfecta diagnosed?

A trained dentist can identify and diagnose amelogenesis imperfecta based on family history information and clinical observation of an affected individual.[3]

There is no national list of dentists who diagnose and treat people with amelogenesis imperfecta. Schools of dentistry or the dental departments at major medical centers may be helpful in locating dentists who are familiar with amelogenesis imperfecta. The American Academy of Pediatric Dentistry is a good source of pediatric dentists, although any particular member of this group may or may not see people with amelogenesis imperfecta. To locate a dentist in your area, you can also contact the National Dental Association or the American Dental Association.
Last updated: 8/5/2011

How might amelogenesis imperfecta be treated?

Treatment depends on the type of amelogenesis imperfecta and the type of enamel abnormality.[4][5] Treatments include preventative measures, various types of crowns, as well as tooth implants or dentures in the most severe cases.  The social and emotional impact of this condition should also be addressed.[3]
Last updated: 8/1/2011

Can amelogenesis imperfecta be prevented?

It is generally not possible to prevent a person with amelogenesis imperfecta from passing this condition to their children. Genetic testing for amelogenesis imperfecta is not widely available because it is currently limited to research laboratories. Orphanet maintains a list of laboratories that perform testing for amelogenesis imperfecta, although the list mainly includes laboratories in Europe.

If an affected individual has a known mutation in one of the genes associated with this condition, it may be possible to test for the condition during pregnancy using fetal DNA obtained through chorionic villus sampling (CVS) or amniocentesis. Another form of genetic testing, called preimplantation genetic diagnosis (PGD), could potentially be used if a mutation has been identified in a family. To perform PGD, a couple must first undergo in vitro fertilization (IVF). One cell is removed from each of the resulting embryos and is used to perform DNA testing. Only the embryos that test negative for the mutation are put back into the mother. The availability of PGD is limited due to its high cost and a lack of centers that perform the procedure.
Last updated: 8/1/2011

How can I find low-cost dental care?

The National Institute of Dental and Craniofacial Research (NIDCR), one of the federal government’s National Institutes of Health, leads the nation in conducting and supporting research to improve oral health. As a research organization, NIDCR does not provide financial assistance for dental treatment. The following resources, however, may help you find the dental care you need. NIDCR sometimes seeks volunteers with specific dental, oral, and craniofacial conditions to participate in research studies, also known as clinical trials. Researchers may provide study participants with limited free or low-cost dental treatment for the particular condition they are studying. Visit the NIDCR Web site to learn more about NIDCR clinical trials.

For a complete list of all federally funded clinical trials, visit http://clinicaltrials.gov. You can also call the Patient Recruitment and Public Liaison Office at 1–800–411–1222 to see if you qualify for any clinical trials taking place at the National Institutes of Health campus in Bethesda, Maryland.

Dental schools can be a good source of quality, reduced-cost dental treatment. Most of these teaching facilities have clinics that allow dental students to gain experience treating patients while providing care at a reduced cost. Experienced, licensed dentists closely supervise the students. Post-graduate and faculty clinics are also available at most schools.

Dental hygiene schools may also offer supervised, low-cost preventive dental care as part of the training experience for dental hygienists. To find out if there are schools of dentistry or dental hygiene in your area, call your state dental society or association. These organizations are listed in your telephone book. Visit the American Dental Association Web site for a complete list of U.S. dental schools. The American Dental Hygienists’ Association Web site lists U.S. dental hygiene programs.

You can also contact the National Oral Health Information Clearinghouse at:

National Oral Health Information Clearinghouse
1 NOHIC Way
Bethesda, Maryland 20892–3500
Toll-free: 1–866–232–4528

The Bureau of Primary Health Care, a service of the Health Resources and Services Administration (HRSA), supports federally-funded community health centers across the country that provide free or reduced-cost health services, including dental care. To obtain a list of centers in your area, contact the HRSA Information Center toll-free at 1–888–Ask–HRSA (1–888–275–4772) or visit their web site at http://findahealthcenter.hrsa.gov.

The Centers for Medicare & Medicaid Services (CMS) administers three important federally-funded programs: Medicare, Medicaid, and the Children’s Health Insurance Program (CHIP). Medicare is a health insurance program for people who are 65 years and older or for people with specific disabilities. Medicare does not cover most routine dental care or dentures. Visit http://www.cms.gov/MedicareDentalCoverage/.

Medicaid
is a state-run program that provides medical benefits, and in some cases dental benefits, to eligible individuals and families. States set their own guidelines regarding who is eligible and what services are covered. Most states provide limited emergency dental services for people age 21 or over, while some offer comprehensive services. For most individuals under the age of 21, dental services are provided under Medicaid. Visit http://www.cms.gov/MedicaidDentalCoverage/.

CHIP helps children up to age 19 who are without health insurance. CHIP provides medical coverage and, in most cases, dental services to children who qualify. Dental services covered under this program vary from state to state. Visit http://www.cms.gov/CHIPDentalCoverage/.

CMS can provide detailed information about each of these programs and refer you to state programs where applicable. If you currently have Medicare, call 1–800–MEDICARE (1–800–633–4227). Others may call 1–877–267–2323 or visit the CMS web site at http://www.cms.gov. You can also write to them at the address below:

Centers for Medicare & Medicaid Services
7500 Security Boulevard
Baltimore, Maryland 21244

Your state or local health department may know of programs in your area that offer free or reduced-cost dental care. Call your local or state health department to learn more about their financial assistance programs. You can click on the link above to view health departments by state.

Finally, the United Way may be able to direct you to free or reduced-cost dental services in your community. Check your telephone book for the number of your local United Way chapter.
Last updated: 8/1/2011

How can I find non-profit organizations that provide information on obtaining financial aid for medical treatments?

Information on financial aid for medical treatments can be obtained from the following patient advocacy organizations:

Patient Advocate Foundation
700 Thimble Shoals Boulevard
Suite 200
Newport News, VA 23606
Phone: 1-800-532-5274
Fax: 757-873-8999 
Online e-mail request form: http://gallery.patientadvocate.org/requests/paf_cm_request.php/
Web site: http://www.patientadvocate.org/

Family Voices
2340 Alamo SE, Suite 102
Albuquerque, NM 87106
Toll-free: 1-888-835-5669
Phone: 505-872-4774
Fax: 505-872-4780
Online E-mail Contact Form: http://familyvoices.org/contact.php
Web site:
http://www.familyvoices.org/  

211 Information and Referral services provide people with local information about and referrals to human services for everyday needs and in times of crisis.

Also community voluntary agencies and service organizations such as the Salvation Army, Lutheran Social Services, Jewish Social Services, Catholic Charities, and the Lions Club often offer help. These organizations are listed in your local phone directory. Some temples, mosques, churches, and synagogues may provide financial help or services to their members.

Fundraising is another mechanism to consider. Some patients find that friends, family, and community members are willing to contribute financially if they are aware of a difficult situation. Contact your local library for information about how to organize fundraising efforts
Last updated: 8/1/2011

References
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.