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New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology
Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives. With this progress it has become apparent that many non-skeletal rare diseases have an impact on bone mass, bone quality and/or bone metabolism, with potentially severe repercussions for quality of life in adults.
The new paper Bone fragility in patients affected by congenital diseases non skeletal in origin , published in
Orphanet Journal of Rare Diseases by the International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group (SRDWG), provides a first taxonomic classification of selected non-skeletal rare congenital disorders with an impact on bone physiology on the basis of phenotypes. The diseases have been described according to the systemic disease; genetic defect; pathophysiology of bone
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Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives. With this progress it has become apparent that many non-skeletal rare diseases have an impact on bone mass, bone quality and/or bone metabolism, with potentially severe repercussions for quality of life in adults.
The new paper Bone fragility in patients affected by congenital diseases non skeletal in origin , published in
Orphanet Journal of Rare Diseases by the International Osteoporosis Foundation (IOF) Skeletal Rare Diseases Working Group (SRDWG), provides a first taxonomic classification of selected non-skeletal rare congenital disorders with an impact on bone physiology on the basis of phenotypes. The diseases have been described according to the systemic disease; genetic defect; pathophysiology of bone phenotype; and therapy, where available.