Hajdu–Cheney Syndrome: A Systematic Review of the Literature

Abstract

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.

Oral Surgery Procedures in a Patient with Hajdu-Cheney Syndrome Treated with Denosumab—A Rare Case Report

“…Sometimes, neurological disorders may occur. A normal rate of mental development is observed in the majority of patients [1][2][3][4][5][6][7][8][9][10]. To our knowledge, there have been about 50 patients reported in the literature with HCS [10].…”

“…Due to the risk of MRONJ, the procedures were performed one at the time and in a minimally invasive manner [10]. An antibiotic prophylaxis was used.…”

“…A normal rate of mental development is observed in the majority of patients [1][2][3][4][5][6][7][8][9][10]. To our knowledge, there have been about 50 patients reported in the literature with HCS [10]. However, in the Pubmed database, no patient with HCS who underwent oral surgery procedures was described.…”

“…HCS was first described in 1948 by Hajdu and Kauntze, and then in 1965 by Cheney [1,2]. The clinical and radiological characteristics by Brennan and Pauli are described in Table 1 [10]. Hajdu-Cheney syndrome is characterized with numerous bone deformities, osteolysis, and osteoporosis.…”

“…Currently, there are no effective treatments for HCS. Treatment focuses on alleviating the effects of the disease, eliminating complications, and improving patients' quality of life [10]. In the treatment of progressive osteoporosis, experimental drugs have been used including the following: bisphosphonates (zoledronate, pamidronate, alendronate) [4,[11][12][13][14][15][16][17], denosumab [18], and glucocorticoids (e.g., prednisone) [17].…”