Hajdu-Cheney syndrome

Hajdu-Cheney syndrome is an extremely rare genetic disorder of the connective tissue characterized by severe and excessive bone resorption leading to osteoporosis and a wide range of other potential symptoms. Approximately 50 cases have been reported worldwide.

Since about 2002, some patients with this disorder have been offered drug therapy with bisphosphonates (a class of osteoporosis drugs) to treat problems with bone resorption associated with the bone breakdown and skeletal malformations that characterize this disorder.