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Diseases

Genetic and Rare Diseases Information Center (GARD)

Acrodysostosis


Other Names for this Disease
  • Arkless-Graham syndrome
  • Maroteaux-Malamut syndrome
  • Acrodysplasia
  • Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome
  • Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) 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.

Overview

Acrodysostosis refers to a group of genetic disorders of bone growth. Common signs and symptoms, include very short fingers and toes, underdeveloped facial bones, small nose, and short stature.[1] Many individuals with acrodysostosis have developmental delays and intellectual disability.[1] One form of acrodysostosis, called acrodysostosis with hormonal resistance, is caused by a mutation in the PRKAR1A gene. The underlying cause for other forms of acrodysostosis is unknown. Acrodysostosis appears to have an autosomal dominant inheritance pattern, with most reported cases occurring for the first time in a family due to a new mutation.[1] Inheritance from an affected parent has been described as well.[1] Acrodysostosis can be difficult to distinguish from pseudohypoparathyroidism and pseudopseudohypoparathyroidism.[1]
Last updated: 9/21/2012

References

  1. Silve C, Clauser E, Linglart A. Acrodysostosis. Horm Metab Res. 2012 Sep;44(10):749-58. Epub 2012 Jul 19; http://www.ncbi.nlm.nih.gov/pubmed/22815067. Accessed 9/19/2012.
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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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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 Acrodysostosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Arkless-Graham syndrome
  • Maroteaux-Malamut syndrome
  • Acrodysplasia
  • Nasal hypoplasia-peripheral dysostosis-intellectual disability syndrome
  • Peripheral dysostosis-nasal hypoplasia-intellectual disability (PNM) 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.