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  2. Hajdu-Cheney syndrome

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.

Biomedical Dictionary

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