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    Did you mean Hereditary Vitamin D Resistant Rickets?
    Glossary Hereditary Vitamin D Resistant Rickets

    genetic disorder causing poor bone development despite normal vitamin D levels

    Hereditary Vitamin D Resistant Rickets (HVDRR) is a rare genetic disorder where the body is unable to properly respond to vitamin D, leading to poor bone development and rickets despite normal or high levels of vitamin D in the blood. This condition is caused by mutations in the vitamin D receptor (VDR) gene, which impairs the body's ability to absorb calcium and phosphate, essential for healthy bone formation.

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      research 6874 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets

      October 2024 in “Journal of the Endocrine Society”
      This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.

      research Molecular Genetics of Alopecias

      9 citations , January 2015 in “Current problems in dermatology”
      This review highlights recent genetic research advancements in understanding hereditary hair diseases but reports no new study results, emphasizing the identification of genes related to both monogenic and polygenic hair disorders.

      research Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report

      January 2024 in “Clinical, cosmetic and investigational dermatology”
      In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.

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