{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T18:01:22Z","timestamp":1790791282309,"version":"4.1.0"},"reference-count":78,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T00:00:00Z","timestamp":1598313600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Hajdu\u2013Cheney 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\u2013Cheney 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.<\/jats:p>","DOI":"10.3390\/ijerph17176174","type":"journal-article","created":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T10:48:24Z","timestamp":1598352504000},"page":"6174","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Hajdu\u2013Cheney Syndrome: A Systematic Review of the Literature"],"prefix":"10.3390","volume":"17","author":[{"given":"Jonathan","family":"Cort\u00e9s-Mart\u00edn","sequence":"first","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1756-1555","authenticated-orcid":false,"given":"Lourdes","family":"D\u00edaz-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, Nursing Department, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Piqueras-Sola","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, Hospital Universitario Virgen de las Nieves, 18014 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Rodr\u00edguez-Blanque","sequence":"additional","affiliation":[{"name":"Andalusia Research Plan, Junta de Andaluc\u00eda, Research Group CTS1068, San Cecilio Clinical University Hospital, 18071 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Bermejo-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Research Group CTS 1068, Andalusia Research Plan. Junta de Andaluc\u00eda, Clinical RIBER CENTER, 41018 Sevilla, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4650-2159","authenticated-orcid":false,"given":"Juan Carlos","family":"S\u00e1nchez-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Research Group CTS1068, Andalusia Research Plan, Junta de Andaluc\u00eda, Nursing Department, Faculty of Health Sciences, University of Granada, 18071 Granada, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,8,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1002\/ajmg.a.20181","article-title":"Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?","volume":"121A","author":"Singh","year":"2003","journal-title":"Am. J. Med. Genet."},{"key":"ref_2","unstructured":"(2020, July 25). Orphanet: Acroosteolisis Tipo Dominante. 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