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Genetic and Rare Diseases Information Center (GARD)

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Albright's hereditary osteodystrophy


Other Names for this Disease

  • AHO
  • Albright hereditary osteodystrophy
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Overview

Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The features of Albright's hereditary osteodystrophy are associated with resistance to parathyroid hormone (pseudohypoparathyroidism) and to other hormones (thyroid-stimulation hormone, in particular). This autosomal dominantly inherited condition is caused by mutations in the GNAS gene.[1] Treatment consists of calcium and vitamin D supplements.[2]
Last updated: 10/17/2012

References

  1. Kottler ML, Linglart A, Carel JC. Albright hereditary osteodystrophy. Orphanet encyclopedia. January 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=665. Accessed 10/17/2012.
  2. Topiwala S. Pseudohypoparathyroidism. MedlinePlus. July 2012; http://www.nlm.nih.gov/medlineplus/ency/article/000364.htm. Accessed 10/17/2012.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Albright's hereditary osteodystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AHO
  • Albright hereditary osteodystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.