Molecular, Phenotypic Aspects and Therapeutic Horizons of Rare Genetic Bone Disorders

摘要: A rare disease afflicts less than 200,000 individuals, according to the National Organization for Rare Diseases (NORD) of United States. Over 6,000 disorders affect approximately 1 in 10 Americans. genetic bone remain major causes disability US patients. These also represent a therapeutic challenge clinicians, due lack understanding underlying mechanisms. This systematic review explored current literature on directions following disorders: fibrous dysplasia, Gorham-Stout syndrome, fibrodysplasia ossificans progressiva, melorheostosis, multiple hereditary exostosis, osteogenesis imperfecta, craniometaphyseal achondroplasia, and hypophosphatasia. The mechanisms disease, exostosis are not fully elucidated. Inhibitors ACVR1/ALK2 pathway may serve as possible intervention FOP. use bisphosphonates IL-6 inhibitors has been be useful treatment but more research is warranted. Cell therapy, bisphosphonate polytherapy, human growth hormone avert pathology further studies needed. There still no effective treatments these disorders; however, significant promising advances modalities were developed that will limit patient suffering treat their skeletal disabilities.