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Hajdu-Cheney is a rare, autosomal dominant disorder, with sporadic cases, associated with mutations in the terminal exon 34 of the NOTCH2 gene encoding the transmembrane NOTCH2 receptor and characterized by acroosteolysis of hands and feet, developmental defects of bones, teeth and joints causing distinctive craniofacial and skull changes, and also manifested by severe osteoporosis and short stature [1]. We report a case of Hajdu Cheney syndrome.

Idiopathic acro-osteolysis: Hajdu Cheney syndrome