Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTypesTreatmentGenetic Counseling
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Types
Treatment
Genetic Counseling
Amelogenesis imperfectais an inherited dental disease that affects one in 14,000 to 16,000 children in the U.S.Those born with amelogenesis imperfecta do not produce functional proteins that are required to create and lay down effectiveenamel. As a result, their teeth can be discolored, misshapen, or fragile, and most cases require dental work to preserve or replace teeth.
This article covers the symptoms and causes of amelogenesis imperfecta. It discusses how amelogenesis imperfecta is diagnosed and treated and how genetic counseling can help families.
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Symptoms of Amelogenesis Imperfecta
Amelogenesis imperfecta can cause specific symptoms affecting the teeth and bite, including:
Some of the additional risks and complications associated with amelogenesis imperfecta include:
What Causes Amelogenesis Imperfecta?
Ageneis like a blueprint that is used to create proteins and, ultimately, larger structures within the body. When genetic mutations or other chromosomal defects change the information in a gene, the protein created may not function properly.
Amelogenesis imperfecta affects proteins that the body normally uses to produce tooth enamel. There are several proteins that are necessary to correctly make enamel. These include:
Mutations in the FAM83H gene are what cause amelogenesis imperfecta in most cases. However, mutations in the ENAM, MMP20, and AMELX genes can also lead to the disorder. Amelogenesis imperfecta can also result from new gene mutations and can happen in people who don’t have amelogenesis in their family.
How Is Amelogenesis Imperfecta Diagnosed?
The diagnosis of amelogenesis imperfecta is based on both a careful family history and assessment of dental characteristics. Genetic testing may be used to understand the cause and heritability of the condition.
Differential Diagnosis
When considering a diagnosis of amelogenesis imperfecta, healthcare providers may need to rule out other potential causes that may lead to similar symptoms and signs. Some of these include:
There are also several syndromes that may be related to the condition and may be considered.
Tricho-dento-osseous syndrome(TDO) is a condition that may have similar symptoms to amelogenesis imperfecta. The most notable of them istaurodontism, abnormal changes in tooth shape. It is unclear whether the underlying causes of these disorders are related.
Kohlschutter syndrome,platyspondyly,nephrocalcinosis, and cone rod dystrophy can co-occur with amelogenesis imperfecta.
The 4 Types of Amelogenesis Imperfecta
Different forms of amelogenesis imperfecta can be inherited dominantly, recessively, or with abnormalities present on the X chromosome. Some gene mutations are known to follow one specificinheritance pattern, while others have been known to be inherited in multiple ways—particularly the ENAM gene.
Treatment of Amelogenesis Imperfecta
The goals of treatment for amelogenesis imperfecta are to optimize both the function and cosmetic appearance of teeth and include:
As part of early development,composite or veneered crownsare fitted on the front teeth and metal or veneered crowns are fitted on teeth in the back of the mouth.Local anesthetics are usually used, but ageneral anestheticmay be necessary for the procedure. Depending on the timing of this dental work, especially if a delay has occurred, some decayed teeth may need to be removed.
Around the age of 6 years, as permanent adult teeth begin to come in, treatment considerations will depend on the type of amelogenesis imperfecta that is present. Cases where the enamel of the teeth is hard and thin may be effectively protected with composite/porcelain crowns orveneers.
Other forms of amelogenesis imperfecta may result in adult teeth that are extremely sensitive or weak, making them less able to be preserved.Implantsor dentures may be necessary to replace damaged teeth.
Long-Term Management of Amelogenesis Imperfecta
In most cases,good oral hygienewill help to preserve teeth over the long term, and dietary avoidance of hard and acidic foods can help avoid additional damage that may weaken enamel. Toothpaste for sensitive teeth can decrease the tooth pain associated with amelogenesis imperfecta.
Genetic Counseling for Amelogenesis Imperfecta
The genetic causes of amelogenesis imperfecta are becoming more clear. Researchers have identified several patterns of inheritance and the specific genes involved.Genetic testsare increasingly available to determine the causes of distinct forms of the condition.
A family history and physical examination, including dental X-rays, may be sufficient to lead to the diagnosis. Further genetic testing may identify specific causes. If needed, genetic counselors may help future parents make informed family planning decisions and identify the potential risks to subsequent generations.
Summary
Amelogenesis imperfecta is a rare inherited disorder causing abnormal enamel formation. Children with amelogenesis imperfecta may have discolored teeth, very sensitive teeth, abnormal tooth growth, and a misaligned bite.
7 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization for Rare Disorders.Amelogenesis imperfecta: affected populations.National Organization for Rare Diseases.Amelogenesis imperfecta.National Library of Medicine: MedlinePlus.Amelogenesis imperfecta.Centers for Disease Control and Prevention.Dental fluorosis.Jain P, Kaul R, Saha S, Sarkar S.Tricho-dento-osseous syndrome and precocious eruption.J Clin Exp Dent. 2017;9(3):e494–e497. doi:10.4317/jced.53348Reddy P, Aravelli S, Goud S, Malathi L.Amelogenesis imperfecta with nephrocalcinosis: a rare association in siblings.Cureus. 2019;11(7):e5060. doi:10.7759/cureus.5060American Academy of Pediatric Dentistry.Dental management of heritable dental developmental anomalies.Pediatr Dent. 2017;39(6):348-353.Additional ReadingNational Institutes of Health Genetic and Rare Disease Information Center.Amelogenesis imperfecta.Smith CEL, Poulter JA, Antanaviciute A, et al.Amelogenesis imperfecta; genes, proteins, and pathways.Front Physiol. 2017;8:435. doi:10.3389/fphys.2017.00435
7 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Organization for Rare Disorders.Amelogenesis imperfecta: affected populations.National Organization for Rare Diseases.Amelogenesis imperfecta.National Library of Medicine: MedlinePlus.Amelogenesis imperfecta.Centers for Disease Control and Prevention.Dental fluorosis.Jain P, Kaul R, Saha S, Sarkar S.Tricho-dento-osseous syndrome and precocious eruption.J Clin Exp Dent. 2017;9(3):e494–e497. doi:10.4317/jced.53348Reddy P, Aravelli S, Goud S, Malathi L.Amelogenesis imperfecta with nephrocalcinosis: a rare association in siblings.Cureus. 2019;11(7):e5060. doi:10.7759/cureus.5060American Academy of Pediatric Dentistry.Dental management of heritable dental developmental anomalies.Pediatr Dent. 2017;39(6):348-353.Additional ReadingNational Institutes of Health Genetic and Rare Disease Information Center.Amelogenesis imperfecta.Smith CEL, Poulter JA, Antanaviciute A, et al.Amelogenesis imperfecta; genes, proteins, and pathways.Front Physiol. 2017;8:435. doi:10.3389/fphys.2017.00435
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Organization for Rare Disorders.Amelogenesis imperfecta: affected populations.National Organization for Rare Diseases.Amelogenesis imperfecta.National Library of Medicine: MedlinePlus.Amelogenesis imperfecta.Centers for Disease Control and Prevention.Dental fluorosis.Jain P, Kaul R, Saha S, Sarkar S.Tricho-dento-osseous syndrome and precocious eruption.J Clin Exp Dent. 2017;9(3):e494–e497. doi:10.4317/jced.53348Reddy P, Aravelli S, Goud S, Malathi L.Amelogenesis imperfecta with nephrocalcinosis: a rare association in siblings.Cureus. 2019;11(7):e5060. doi:10.7759/cureus.5060American Academy of Pediatric Dentistry.Dental management of heritable dental developmental anomalies.Pediatr Dent. 2017;39(6):348-353.
National Organization for Rare Disorders.Amelogenesis imperfecta: affected populations.
National Organization for Rare Diseases.Amelogenesis imperfecta.
National Library of Medicine: MedlinePlus.Amelogenesis imperfecta.
Centers for Disease Control and Prevention.Dental fluorosis.
Jain P, Kaul R, Saha S, Sarkar S.Tricho-dento-osseous syndrome and precocious eruption.J Clin Exp Dent. 2017;9(3):e494–e497. doi:10.4317/jced.53348
Reddy P, Aravelli S, Goud S, Malathi L.Amelogenesis imperfecta with nephrocalcinosis: a rare association in siblings.Cureus. 2019;11(7):e5060. doi:10.7759/cureus.5060
American Academy of Pediatric Dentistry.Dental management of heritable dental developmental anomalies.Pediatr Dent. 2017;39(6):348-353.
National Institutes of Health Genetic and Rare Disease Information Center.Amelogenesis imperfecta.Smith CEL, Poulter JA, Antanaviciute A, et al.Amelogenesis imperfecta; genes, proteins, and pathways.Front Physiol. 2017;8:435. doi:10.3389/fphys.2017.00435
National Institutes of Health Genetic and Rare Disease Information Center.Amelogenesis imperfecta.
Smith CEL, Poulter JA, Antanaviciute A, et al.Amelogenesis imperfecta; genes, proteins, and pathways.Front Physiol. 2017;8:435. doi:10.3389/fphys.2017.00435
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