What is the syndrome characterized by Amelogenesis Imperfecta, taurodontism, and nail and hair defects?

Study for the AAPD-QE. Prepare with flashcards and multiple choice questions, each question is accompanied by hints and explanations. Get ready for your exam!

The syndrome that is characterized by Amelogenesis Imperfecta, taurodontism, and defects in nails and hair is Trichodento-osseous Syndrome. This condition is a rare genetic disorder that specifically affects the development of teeth, leading to enamel abnormalities (amelogenesis imperfecta) and the formation of taurodont teeth, which feature an enlarged pulp chamber and short roots. Additionally, the name "trichodento-osseous" itself reflects the involvement of hair (tricho-), teeth (dento-), and bones (osseous), aligning perfectly with the symptomatology described.

This syndrome is associated with mutations in the LRTOMT gene, which has a role in hair and tooth development. As such, individuals with Trichodento-osseous Syndrome display unique characteristics that differentiate it from other conditions.

Other options do not adequately represent all the features mentioned in the question. Osteogenesis Imperfecta primarily affects bone fragility and does not typically include the dental or hair defects specified. Klippel-Feil Syndrome is related to cervical vertebrae fusion and does not involve enamel or hair abnormalities. Lastly, Ellis-van Creveld Syndrome is a genetic disorder that affects bone growth and may involve oral

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