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Acrodysostosis
Other Names for this Disease
- Acrodysplasia
- Arkless-Graham syndrome
- Maroteaux-Malamut syndrome
- Nasal hypoplasia-peripheral dysostosis-mental retardation syndrome
- Peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome
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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]
References
- 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 September 19, 2012.
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- MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Acrodysostosis. Click on the link to go to OMIM and review these resources.