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Diseases

Genetic and Rare Diseases Information Center (GARD)

Acroosteolysis dominant type


Other Names for this Disease
  • Acroosteolysis with osteoporosis and changes in skull and mandible
  • Arthrodentoosteodysplasia
  • Cheney syndrome
  • Hajdu-Cheney syndrome
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Overview

Acroosteolysis dominant type (AOD), also known as Hajdu-Cheney syndrome, is a condition characterized by bone abnormalities throughout the body. The signs and symptoms of this disorder vary greatly but may include  osteoporosis (loss of bone mass), compression fractures, skull deformities, and curvature of the spine (scoliosis). The abnormalities associated with this condition may lead to short stature. Loss of bone (osteolysis) in the hands and feet is a characteristic feature of this condition. Other features of AOD may include distinctive facial features, loose joints, dental problems, excess body hair, recurrent infections, heart defects, and kidney abnormalities. AOD is caused by mutations in the NOTCH2 gene. The mutation can be inherited from a parent, or it can be the result of a new mutation in the affected individual. [1][2][3][4] Though osteoporosis and respiratory dysfunction can cause problems for individuals with this condition, life expectancy is typically normal.[2]
Last updated: 4/29/2016

References

  1. Hajdu-Cheney syndrome. Genetics Home Reference. February, 2015; https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome. Accessed 4/29/2016.
  2. Nishimura, Gen. Acroosteolysis dominant type. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=955. Accessed 4/29/2016.
  3. Hajdu Cheney Syndrome. National Organization of Rare Disorders (NORD). 2005; http://rarediseases.org/rare-diseases/hajdu-cheney-syndrome/. Accessed 4/29/2016.
  4. Samuel, Shini Susan et al. Hajdu Cheney Syndrome. J Clin Diagn res.. February, 2016; 10(2):OD07-OD09. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800570/. Accessed 4/29/2016.
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In Depth Information

  • 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 Acroosteolysis dominant type. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Acroosteolysis with osteoporosis and changes in skull and mandible
  • Arthrodentoosteodysplasia
  • Cheney syndrome
  • Hajdu-Cheney syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.