Pseudoachondroplasia

Common Name(s)

Pseudoachondroplasia, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome

Pseudoachondroplasia is an inherited disorder of bone growth which is characterized by short stature. Other features include short arms and legs, a waddling walk, early-onset joint pain (osteoarthritis), and a limited range of motion at the elbows and hips. Intelligence, facial features and head size are normal. Pseudoachondroplasia is caused by mutations in the COMP gene. This condition is inherited in an autosomal dominant pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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 "Pseudoachondroplasia" returned 19 free, full-text research articles on human participants. First 3 results:

[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].
 

Author(s): Chun-Ting Lu, Li Guo, Zhan-Hui Zahng, Wei-Xia Lin, Yuan-Zong Song, Lie Feng

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):937-41.

 

This study aimed to report the clinical characteristics and COMP gene mutation of a family with pseudoachondroplasia (PSACH), a relatively rare spinal and epiphyseal dysplasia that is inherited as an autosomal dominant trait. Clinical information on a 5-year-2-month-old PSACH child ...

Last Updated: 15 Nov 2013

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Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
 

Author(s): Gail C Jackson, Laureane Mittaz-Crettol, Jacqueline A Taylor, Geert R Mortier, Juergen Spranger, Bernhard Zabel, Martine Le Merrer, Valerie Cormier-Daire, Christine M Hall, Amaka Offiah, Michael J Wright, Ravi Savarirayan, Gen Nishimura, Simon C Ramsden, Rob Elles, Luisa Bonafe, Andrea Superti-Furga, Sheila Unger, Andreas Zankl, Michael D Briggs

Journal: Hum. Mutat.. 2012 Jan;33(1):144-57.

 

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric ...

Last Updated: 15 Dec 2011

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Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.
 

Author(s): L H Cao, L B Wang, S S Wang, H W Ma, C Y Ji, Y Luo

Journal:

 

Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, joint laxity, and early onset osteoarthrosis. Pseudoachondroplasia is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We looked ...

Last Updated: 6 Jun 2011

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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 "Pseudoachondroplasia" returned 1 free, full-text review articles on human participants. First 3 results:

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.
 

Author(s): Jason Kennedy, Gail Jackson, Simon Ramsden, Jacky Taylor, William Newman, Michael J Wright, Dian Donnai, Rob Elles, Michael D Briggs

Journal: Eur. J. Hum. Genet.. 2005 May;13(5):547-55.

 

The skeletal dysplasias are a clinically and genetically heterogeneous group of conditions affecting the development of the osseous skeleton and fall into the category of rare genetic diseases in which the diagnosis can be difficult for the nonexpert. Two such diseases are pseudoachondroplasia ...

Last Updated: 26 Apr 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.