Acrodysostosis

Common Name(s)

Acrodysostosis

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. Many individuals with acrodysostosis have developmental delays and intellectual disability. 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. Inheritance from an affected parent has been described as well. Acrodysostosis can be difficult to distinguish from pseudohypoparathyroidism and pseudopseudohypoparathyroidism.
 

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Condition Specific Organizations

Following organizations serve the condition "Acrodysostosis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Acrodysostosis" returned 9 free, full-text research articles on human participants. First 3 results:

The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis.
 

Author(s): Nan Li, Min Nie, Mei Li, Yan Jiang, Xiaoping Xing, Ou Wang, Chunlin Li, Weibo Xia

Journal:

 

Acrodysostosis is a rare skeletal dysplasia, which has not been reported previously in patients of Chinese origin. The PRKAR1A gene and PDE4D gene have been found to be causative genes of acrodysostosis. A Chinese girl with acrodysostosis and concomitant multiple hormone resistance ...

Last Updated: 31 Jul 2014

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Exome sequencing identifies PDE4D mutations in acrodysostosis.
 

Author(s): Hane Lee, John M Graham, David L Rimoin, Ralph S Lachman, Pavel Krejci, Stuart W Tompson, Stanley F Nelson, Deborah Krakow, Daniel H Cohn

Journal: Am. J. Hum. Genet.. 2012 Apr;90(4):746-51.

 

Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations ...

Last Updated: 9 Apr 2012

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Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.
 

Author(s): Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne-Marie Guerrot, Philippe Flahaut, Alice Duncombe, Genevieve Baujat, Stanislas Lyonnet, Caroline Thalassinos, Patrick Nitschke, Jean-Laurent Casanova, Martine Le Merrer, Arnold Munnich, Valérie Cormier-Daire

Journal: Am. J. Hum. Genet.. 2012 Apr;90(4):740-5.

 

Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. Moderate intellectual disability and resistance to multiple hormones might also be present. Recently, a recurrent mutation ...

Last Updated: 9 Apr 2012

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Reviews from the PubMed Database

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The terms "Acrodysostosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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