RT Journal Article
T1 Hajdu-Cheney Syndrome: A Systematic Review of the Literature.
A1 Cortés-Martín, Jonathan
A1 Díaz-Rodríguez, Lourdes
A1 Piqueras-Sola, Beatriz
A1 Rodríguez-Blanque, Raquel
A1 Bermejo-Fernández, Antonio
A1 Sánchez-García, Juan Carlos
K1 Hajdu–Cheney syndrome
K1 NOTCH2
K1 acroosteolysis
K1 connective tissue
K1 rare diseases
K1 receptor
AB 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.
YR 2020
FD 2020-08-25
LK http://hdl.handle.net/10668/16167
UL http://hdl.handle.net/10668/16167
LA en
DS RISalud
RD Apr 7, 2025