Amelogenesis Imperfecta, Nephrocalcinosis, is an enamel-renal disorder, where one develops abnormal formation of teeth enamel and also nephrocalcinosis.
Enamel-Renal syndrome is caused by a defect in the gene FAM20A (not the other genes listed on this site). The dental defects include lack of enamel for the teeth, failure of the teeth to erupt, misshapen roots, large pulp chambers, with calcifications in the pulp. The nephrocalcinosis may be asymptomatic until early 20s, but is probably bilateral and visible on ultrasound early on (10 years old?). My daughter has this, but we are still trying to understand whether there could be other associated problems and what the prognosis is for her kidneys, long term. Does anyone else have experience with this?
I and my two sisters were born with Amelogenesis imperfecta. Four of our siblings did not have it. My parents did not have it but my aunt did. She gave her kids flouride tablets when they were very young and they all have normal teeth. My sisters that have the disorder gave their kids flouride liquid drops and tablets and their teeth are normal. My two boys and one niece and nephew had amelogenesis imperfecta real bad with their first set of teeth. We had the dentist cover them with composites and gave them flouride liquid drops when they were very young and then switched to the flourde chewable tablets when they were about 3 or 4 years old up until all their permanent teeth came in. Their permanent teeth came in white, strong and normal. If you have it and are having a baby start the treatment as soon as possible, it is hereditary. If your young kids first set has it, start them right away before the permanent set comes out. You have to do the flouride treatment before the teeth are developed and out. Do not listen to nay sayers. Most dentists have little experience with this disease and will not believe in the flouride treatment but it works! It worked for our kids. Spread the message. I wish somebody would of told my parents so that me and my sisters would not have had to go through the trauma. My aunt did not tell my mom until it was too late for us. I pray you listen and try it and share the message.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
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Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
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