Amelogenesis Imperfecta Hypoplastic Type IG

Common Name(s)

Amelogenesis Imperfecta Hypoplastic Type IG, Amelogenesis Imperfecta Nephrocalcinosis, Enamel-renal syndrome

Amelogenesis Imperfecta Hypoplastic Type, IG (also called enamel-renal syndrome) is a specific type of Amelogenesis Imperfecta (AI) and is characterized by enamel hypoplasia (teeth do not have enamel) and calcium deposits in the kidneys (renal). Tooth enamel is normally the visible part of the human tooth and is the hardest substance in the human body. The color of tooth enamel normally ranges from light yellow to grayish or bluish white. Amelogensis imperfecta in general causes teeth to be abnormally small, discolored, pitted or grooved, and brittle. Symptoms of this particular type include brown or yellow spots on the teeth and teeth which appear smaller and underdeveloped in size. Individuals may have a misaligned jaw bite and may have unusual gaps between the teeth. There are restorative therapies for this condition. Orthodontic therapy, braces, and crowns, can also help fix teeth spacing and misaligned jaw bites. With regards to the calcium depoits in the kidneys, it is often asymptomatic (shows no symptoms) however is late childhood or early adulthood it can progress to decreased kidney function. In rare cases, it can result in kidney failure. This type of AI is inherited as an autosomal recessive condition. Autosomal recessive means that the individual needs to inherit the affected gene from both parents for the person to have the condition. The parents are unaffected carriers of the gene change. Each child of two unaffected carrier parents has a 25% chance of inheriting the condition. A genetic counselor can provide a better understanding of the underlying causes and recurrence risks. Talk to your doctor or orthodontist to see if you or your child has been diagnosed with this condition to find the right treatment options for you.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Amelogenesis Imperfecta Hypoplastic Type IG" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.