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 85 free, full-text research articles on human participants. First 3 results:

Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia.
 

Author(s): Masaki Matsushita, Hiroshi Kitoh, Bisei Ohkawara, Kenichi Mishima, Hiroshi Kaneko, Mikako Ito, Akio Masuda, Naoki Ishiguro, Kinji Ohno

Journal:

 

Achondroplasia (ACH) is one of the most common skeletal dysplasias with short stature caused by gain-of-function mutations in FGFR3 encoding the fibroblast growth factor receptor 3. We used the drug repositioning strategy to identify an FDA-approved drug that suppresses abnormally ...

Last Updated: 10 Dec 2013

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Postnatal soluble FGFR3 therapy rescues achondroplasia symptoms and restores bone growth in mice.
 

Author(s): Stéphanie Garcia, Béatrice Dirat, Thomas Tognacci, Nathalie Rochet, Xavier Mouska, Stéphanie Bonnafous, Stéphanie Patouraux, Albert Tran, Philippe Gual, Yannick Le Marchand-Brustel, Isabelle Gennero, Elvire Gouze

Journal: Sci Transl Med. 2013 Sep;5(203):203ra124.

 

Achondroplasia is a rare genetic disease characterized by abnormal bone development, resulting in short stature. It is caused by a single point mutation in the gene coding for fibroblast growth factor receptor 3 (FGFR3), which leads to prolonged activation upon ligand binding. To ...

Last Updated: 19 Sep 2013

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Increased sacral uptake on a bone scan with SPECT/CT in a patient with achondroplasia: normal or abnormal?
 

Author(s): Alexander Copelan, Kristin Booth, Helena Balon

Journal: J Nucl Med Technol. 2013 Sep;41(3):234-5; 241.

 

Last Updated: 5 Sep 2013

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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: 3 Feb 2014

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