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Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Variants (also called mutations) in more than 20 different genes can cause amelogenesis imperfecta. Variants in the SACK1H, FAM20A, AMELX, and ENAM genes account for over half of all cases. These genes, as well as many other genes that are associated with amelogenesis imperfecta, provide instructions for making proteins that are essential for normal enamel and tooth development.

Variants in the genes that are associated with amelogenesis imperfecta often lead to an altered protein structure or prevent the production of any functional proteins. As a result, tooth enamel does not form normally and may instead be thin, weak, or soft. The abnormal enamel results in teeth that are easily damaged and can become discolored.

Some people with amelogenesis imperfecta do not have a variant in any of the genes that are associated with this condition. In these people, the genetic cause of the condition is unclear. However, enamel defects can occur in combination with dozens of other conditions.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes Amelogenesis imperfecta?"},{"bodyHtml":"

Because amelogenesis imperfecta causes changes in a person's appearance, the condition can profoundly affect quality of life and self-esteem if not treated. In some people, the condition can lead to avoidance of social activities, anxiety, and other emotional or psychological issues.

Researchers have described at least four forms of amelogenesis imperfecta: hypoplastic (also referred to as type I), hypomaturation (type II), hypocalcified (type III), and hypomaturation and hypocalcified with taurodontism (type IV). These types are generally distinguished by their specific enamel abnormalities. The hypoplastic type is defined by thin enamel, the hypomaturation type is defined by weak or brittle enamel, and the hypocalcified type is defined by soft enamel. The hypomaturation and hypocalcified with taurodontism type involves weak and soft enamel and teeth that are too large for the size of their roots, which are small (this combination is known as taurodontism). These four types of amelogenesis imperfecta are further divided into subtypes according to their pattern of inheritance and their genetic cause.

Some doctors simplify the classification of amelogenesis imperfecta by grouping structural problems with enamel into one group (quantitative enamel defect) and strength or hardness issues with enamel into a second group (qualitative enamel defect).

Amelogenesis imperfecta can occur without any other signs and symptoms (isolated) or it can occur as part of a syndrome that affects multiple parts of the body (syndromic). A subtype of type I, known as amelogenesis imperfecta type IG, can affect the kidneys and is called enamel-renal syndrome. People with this condition may develop calcium deposits in the kidneys (nephrocalcinosis) later in life.

Source: MedlinePlus Genetics

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