Endocrine Abstracts

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or Crohn’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...