Hajdu-Cheney syndrome is an extremely rare congenital disorder of the connective tissue that is inherited in an autosomal dominant pattern. Its central feature is severe and excessive bone resorption, which leads to osteoporosis and can be accompanied by a wide range of other possible symptoms. The condition is also known as acroosteolysis with osteoporosis and changes in skull and mandible, as arthrodentoosteodysplasia and as Cheney syndrome. Mutations in the NOTCH2 gene, identified in 2011, cause it. The syndrome dates from 1948, and only about 50 cases had been reported worldwide when the source article was written, so the clinical picture is still being filled in. This entry records what is known about the condition and is not medical advice.
Facts
Causative Agent
Causative Agent (category) First Described Sources
1. Hajdu-Cheney syndrome (Wikipedia)
Lead section
since the discovery of the syndrome in 1948
Lead section [causative-agent-category]
Mutations in the NOTCH2 gene, identified in 2011, cause HCS.
Lead section [body-system]
severe and excessive bone resorption leading to osteoporosis
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