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: 10 Jul 2015

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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: 10 Jul 2015

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

Widening of the femoral proximal diaphysis--metaphysis angle in fetuses with achondroplasia.
 

Author(s): A Khalil, J Morales-Roselló, M Morlando, A Bhide, A Papageorghiou, B Thilaganathan

Journal: Ultrasound Obstet Gynecol. 2014 Jul;44(1):69-75.

 

It has recently been reported that fetuses with achondroplasia have a wider than expected femoral proximal diaphysis-metaphysis angle (femoral angle). The aim of this case-control study was to investigate this finding.

Last Updated: 2 Jul 2014

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FGFR3 mutation causes abnormal membranous ossification in achondroplasia.
 

Author(s): Federico Di Rocco, Martin Biosse Duplan, Yann Heuzé, Nabil Kaci, Davide Komla-Ebri, Arnold Munnich, Emilie Mugniery, Catherine Benoist-Lasselin, Laurence Legeai-Mallet

Journal: Hum. Mol. Genet.. 2014 Jun;23(11):2914-25.

 

FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses. Achondroplasia (ACH), the most frequent dwarfism, is due to an FGFR3-activating mutation which results in impaired endochondral ossification. The effects of the mutation on membranous ossification ...

Last Updated: 9 May 2014

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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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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

There are currently no open clinical trials for this condition.