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BACKGROUND: Bone tissue represents a large systemic compartment of the human body, with an active metabolism, that controls mineral deposition and removal, and where several factors may play a role. For these reasons, several non-skeletal diseases may influence bone metabolism. It is of a crucial importance to classify these disorders in order to facilitate diagnosis and clinical management. This article reports a taxonomic classification of non-skeletal rare congenital disorders, which have an impact on bone metabolism METHODS: The International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group (SRD-WG), comprised of basic and clinical scientists, has decided to review the taxonomy of non-skeletal rare disorders that may alter bone physiology. RESULTS: The taxonomy of non-skeletal rare congenital disorders which impact bone comprises a total of 6 groups of disorders that may influence the activity of bone cells or the characteristics of bone matrix. CONCLUSIONS: This paper provides the first comprehensive taxonomy of non-skeletal rare congenital disorders with impact on bone physiology.

Original publication




Journal article


Orphanet j rare dis

Publication Date





Bone metabolism, Genetic bone diseases, Metabolic bone diseases, Non-skeletal rare congenital disorders, Taxonomy