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

Achondroplasia and brain stem dysfunction.
 

Author(s): Arnold H Menezes

Journal: Dev Med Child Neurol. 2014 Nov;56(11):1036.

 

Last Updated: 11 Oct 2014

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Diffusion tensor imaging of the brainstem in children with achondroplasia.
 

Author(s): Thangamadhan Bosemani, Gunes Orman, Kathryn A Carson, Avner Meoded, Thierry A G M Huisman, Andrea Poretti

Journal: Dev Med Child Neurol. 2014 Nov;56(11):1085-92.

 

The aims of this study were to compare, using diffusion tensor imaging (DTI) of the brainstem, microstructural integrity of the white matter in children with achondroplasia and age-matched participants and to correlate the severity of craniocervical junction (CCJ) narrowing and neurological ...

Last Updated: 11 Oct 2014

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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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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 2 free, full-text review articles on human participants. First 3 results:

Impact of three genetic musculoskeletal diseases: a comparative synthesis of achondroplasia, Duchenne muscular dystrophy and osteogenesis imperfecta.
 

Author(s): Maman Joyce Dogba, Frank Rauch, Erin Douglas, Christophe Bedos

Journal:

 

Achondroplasia, Duchenne muscular dystrophy, and osteogenesis imperfecta are among the most frequent rare genetic disorders affecting the musculoskeletal system in children. Rare genetic disorders are severely disabling and can have substantial impacts on families, children, and on ...

Last Updated: 14 Jul 2015

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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

Achondroplasia Natural History Multicenter Clinical Study
 

Status: Not yet recruiting

Condition Summary: Achondroplasia

 

Last Updated: 4 Nov 2015

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