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Hajdu-Cheney syndrome

Other Names for this Disease
  • Acroosteolysis with osteoporosis and changes in skull and mandible
  • Arthrodentoosteodysplasia
  • Cheney syndrome
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Hajdu-Cheney syndrome is a rare connective tissue disorder characterized by acroosteolysis (the breakdown of the bones in the fingers and the toes), skull deformities, and generalized osteoporosis.[1][2] Other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. Most patients have normal intelligence.[1][3] This condition is inherited in an autosomal dominant fashion and caused by mutations in the NOTCH2 gene.[4] 
Last updated: 11/4/2011


  1. What Is Hajdu-Cheney Syndrome?. Hajdu-Cheney Syndrome Support Network. 2009; Accessed 1/18/2011.
  2. Leidig-Bruckner G et al. Severe osteoporosis in familial Hajdu-Cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up.. J Bone Miner Res. 1999; Accessed 1/18/2011.
  3. Hajdu Cheney Syndrome. National Organization for Rare Disorders (NORD). 2005; Accessed 1/18/2011.
  4. Hajdu-Cheney syndrome: HJCYS. Online Mendelian Inheritance of Man (OMIM). July 2011; Accessed 11/4/2011.
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Basic Information

  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hajdu-Cheney syndrome. Click on the link to view a sample search on this topic.