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.
Ageneis like a blueprint that is used to create proteins and, ultimately, larger structures within the body.
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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.
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.
X-ray imagingmay be useful to classify the disorder by bang out.
These classification systems have changed over time.
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.
Normal development should be promoted as much as possible.
Cases where the enamel of the teeth is hard and thin may be effectively protected with composite/porcelain crowns orveneers.
Toothpaste for sensitive teeth can decrease the tooth pain associated with amelogenesis imperfecta.
This social distress may lead to hiding the appearance of the teeth when smiling, for example.
Early restoration may lead to healthy peer relationships at an important time in social development.
Genetic Counseling for Amelogenesis Imperfecta
The genetic causes of amelogenesis imperfecta are becoming more clear.
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.
Summary
Amelogenesis imperfecta is a rare inherited disorder causing abnormal enamel formation.
The four types of amelogenesis imperfecta are defined by physical characteristics.
Dental treatments can help improve function and optimize cosmetic appearance.
Genetic counseling can help identify people with the condition.
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