Other Names for this Disease
- Acroosteolysis dominant type
- Acroosteolysis with osteoporosis and changes in skull and mandible
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. Other symptoms may include short stature, joint laxity, premature loss of teeth, hearing loss, and a hoarse voice. Most patients have normal intelligence. This condition is inherited in an autosomal dominant fashion and caused by mutations in the NOTCH2 gene.Hajdu-Cheney syndrome
Last updated: 11/4/2011
- What Is Hajdu-Cheney Syndrome?. Hajdu-Cheney Syndrome Support Network. 2009; http://hajdu-cheney.com/whatis.html. Accessed 1/18/2011.
- 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; http://www.ncbi.nlm.nih.gov/pubmed/10620062. Accessed 1/18/2011.
- Hajdu Cheney Syndrome. National Organization for Rare Disorders (NORD). 2005; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/882/viewAbstract. Accessed 1/18/2011.
- Hajdu-Cheney syndrome: HJCYS. Online Mendelian Inheritance of Man (OMIM). July 2011; http://omim.org/entry/102500. Accessed 11/4/2011.
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- 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.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a 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.