Hajdu-Cheney syndrome
Definition:
Hajdu-Cheney syndrome (HJCYS) is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone formation leads to these anomalies.
References:
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[1]. Bertrand Isidor, et al. Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet. 2011 Mar 6;43(4):306-8. [Content Brief]
[2]. Jacek Majewski, et al. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat. 2011 Oct;32(10):1114-7. [Content Brief]
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