Hajdu–Cheney Syndrome: A Systematic Review of the Literature Cortés Martín, Jonathan Díaz Rodríguez, Consuelo Lourdes Piqueras Sola, Beatriz Rodríguez Blanque, Raquel Bermejo Fernández, Antonio Sánchez García, Juan Carlos Hajdu-Cheney syndrome Acroosteolysis Receptor NOTCH2 Connective tissue Rare diseases Hajdu–Cheney syndrome (HCS) is a rare genetic disease that causes acroosteolysis and generalized osteoporosis, accompanied by a series of developmental skeletal disorders and multiple clinical and radiological manifestations. It has an autosomal dominant inheritance, although there are several sporadic non-hereditary cases. The gene that has been associated with Hajdu-Cheney syndrome is NOTCH2. The described phenotype and clinical signs and symptoms are many, varied, and evolve over time. As few as 50 cases of this disease, for which there is currently no curative treatment, have been reported to date. The main objective of this systematic review was to evaluate the results obtained in research regarding Hajdu–Cheney Syndrome. The findings are reported in accordance with the Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines and were registered on the web PROSPERO under the registration number CRD42020164377. A bibliographic search was carried out using the online databases Orphanet, PubMed, and Scielo; articles from other open access sources were also considered. Finally, 76 articles were included, and after their analysis, we have obtained a series of hypotheses as results that will support further studies on this matter. 2020-10-28T09:42:27Z 2020-10-28T09:42:27Z 2020-08-25 journal article Cortés-Martín, J., Díaz-Rodríguez, L., Piqueras-Sola, B., Rodríguez-Blanque, R., Bermejo-Fernández, A., & Sánchez-García, J. C. (2020). Hajdu–Cheney Syndrome: A Systematic Review of the Literature. International Journal of Environmental Research and Public Health, 17(17), 6174. [doi:10.3390/ijerph17176174] http://hdl.handle.net/10481/63925 10.3390/ijerph17176174 eng http://creativecommons.org/licenses/by/3.0/es/ open access Atribución 3.0 España MDPI