Phenotype variability in Hajdu-Cheney syndrome

Miriam Regev, Ben Pode-Shakked, Jeffrey M. Jacobson, Annick Raas-Rothschild, David B. Goldstein, Yair Anikster*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, hearing loss, cardiovascular involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid in facilitating the diagnosis. Despite several dozens of cases described in the literature, diagnosis often remains elusive, resulting in many cases in a delay in diagnosis reaching adolescence or adulthood. We report herein two unrelated patients of Turkish/Lebanese Jewish and Ashkenazi Jewish descent, each presenting with distinct clinical challenges and subsequently distinct diagnostic odysseys leading to their molecular diagnosis. These illustrative clinical descriptions underscore the wide phenotypic variability of HCS, and further contribute to the current knowledge regarding this rare entity.

Original languageEnglish
Pages (from-to)35-38
Number of pages4
JournalEuropean Journal of Medical Genetics
Issue number1
StatePublished - Jan 2019


  • Hajdu Cheney syndrome
  • NOTCH2
  • Phenotypic variability


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