Achondroplasia

Common Name(s)

Achondroplasia

Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

Little People of America, Inc.

Little People of America, Inc. (LPA), will assist dwarfs with their physical and developmental concerns resulting from short stature. By providing medical, environmental, educational, vocational, and parental guidance, short-statured individuals and their families may enhance their lives and lifestyles with minimal limitations. Through peer support and personal example, our members will be supportive of all those who reach out to LPA. Lastly, by networking with national and international growth-related and genetic-support groups, LPA will enhance knowledge and support of short-statured individuals.

Last Updated: 2 Dec 2009

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Little People of America, Inc.

Little People of America, Inc. (LPA), will assist dwarfs with their physical and developmental concerns resulting from short stature. By providing medical, environmental, educational, vocational, and parental guidance, short-statured individuals and their families may enhance their lives and lifestyles with minimal limitations. Through peer support and personal example, our members will be supportive of all those who reach out to LPA. Lastly, by networking with national and international growth-related and genetic-support groups, LPA will enhance knowledge and support of short-statured individuals.

http://www.lpaonline.org

Last Updated: 2 Dec 2009

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General Support Organizations

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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 "Achondroplasia" returned 84 free, full-text research articles on human participants. First 3 results:

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.
 

Author(s): Deepali N Shinde, Dominik P Elmer, Peter Calabrese, Jérôme Boulanger, Norman Arnheim, Irene Tiemann-Boege

Journal: Hum. Mol. Genet.. 2013 Oct;22(20):4117-26.

 

There are certain de novo germline mutations associated with genetic disorders whose mutation rates per generation are orders of magnitude higher than the genome average. Moreover, these mutations occur exclusively in the male germ line and older men have a higher probability of having ...

Last Updated: 25 Sep 2013

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A rare case of percutaneous coronary intervention in achondroplasia.
 

Author(s): Sunil Kumar Srinivas, Rangaraj Ramalingam, Cholenahally Nanjappa Manjunath

Journal: J Invasive Cardiol. 2013 Jun;25(6):E136-8.

 

Achondroplastic individuals are associated with increased cardiac risk when compared to the general population. Coronary interventions in patients with achondroplasia have not been studied previously. We report the case of a 32-year-old male smoker with achondroplasia who presented ...

Last Updated: 5 Jun 2013

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Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
 

Author(s): Florence Lorget, Nabil Kaci, Jeff Peng, Catherine Benoist-Lasselin, Emilie Mugniery, Todd Oppeneer, Dan J Wendt, Sean M Bell, Sherry Bullens, Stuart Bunting, Laurie S Tsuruda, Charles A O'Neill, Federico Di Rocco, Arnold Munnich, Laurence Legeai-Mallet

Journal: Am. J. Hum. Genet.. 2012 Dec;91(6):1108-14.

 

Achondroplasia (ACH), the most common form of dwarfism, is an inherited autosomal-dominant chondrodysplasia caused by a gain-of-function mutation in fibroblast-growth-factor-receptor 3 (FGFR3). C-type natriuretic peptide (CNP) antagonizes FGFR3 downstream signaling by inhibiting the ...

Last Updated: 10 Dec 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Achondroplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Medical complications of achondroplasia: a multicentre patient review.
 

Author(s): A G Hunter, A Bankier, J G Rogers, D Sillence, C I Scott

Journal: J. Med. Genet.. 1998 Sep;35(9):705-12.

 

Achondroplasia is the most prevalent chondrodysplasia and numerous authors have documented the varied social and medical complications that may compromise a full and productive life. Complications include cervicomedullary compression, spinal stenosis, restrictive and obstructive lung ...

Last Updated: 10 Nov 1998

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jul 2013

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Last Updated: 3 Feb 2014

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