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

Spondylectomy and lateral lumbar interbody fusion for thoracolumbar kyphosis in an adult with achondroplasia: A case report.
 

Author(s): Masashi Miyazaki, Shozo Kanezaki, Naoki Notani, Toshinobu Ishihara, Hiroshi Tsumura

Journal: Medicine (Baltimore). 2017 Dec;96(49):e8983.

 

Fixed thoracolumbar kyphosis with spinal stenosis in adult patients with achondroplasia presents a challenging issue. We describe the first case in which spondylectomy and minimally invasive lateral access interbody arthrodesis were used for the treatment of fixed severe thoracolumbar ...

Last Updated: 31 Dec 1969

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Successful Delivery in a Woman With Achondroplasia: A Case Report.
 

Author(s): Mahbooheh Shirazi, Fateme Golshahi, Nastaran Teimoory

Journal: Acta Med Iran. 2017 Aug;55(8):536-537.

 

Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly. Women with achondroplasia suffer from infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause. Our case was a 26-year-old woman with achondroplasia ...

Last Updated: 31 Dec 1969

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Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family.
 

Author(s): Muhammad Ajmal, Asif Mir, Muhammad Shoaib, Salman Akbar Malik, Muhammad Nasir

Journal:

 

The dimerization efficiency of FGFR3 transmembrane domain plays a critical role in the formation of a normal skeleton through the negative regulation of bone development. Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with an ...

Last Updated: 31 Dec 1969

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

Current Care and Investigational Therapies in Achondroplasia.
 

Author(s): Sheila Unger, Luisa Bonafé, Elvire Gouze

Journal: Curr Osteoporos Rep. 2017 04;15(2):53-60.

 

The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.

Last Updated: 31 Dec 1969

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Achondroplasia: Development, pathogenesis, and therapy.
 

Author(s): David M Ornitz, Laurence Legeai-Mallet

Journal: Dev. Dyn.. 2017 04;246(4):291-309.

 

Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Lifetime Impact of Achondroplasia Study in Europe-LIAISE
 

Status: Recruiting

Condition Summary: Achondroplasia

 

Last Updated: 22 Feb 2018

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