Diastrophic Dysplasia

Common Name(s)

Diastrophic Dysplasia

Diastrophic dysplasia is a rare disorder present at birth and is inherited as an autosomal recessive trait. Diastrophic dysplasia is characterized by short stature with very short arms and legs, abnormal bone development, swelling of the external ears in infants, and progressive curvature of the spine (scoliosis). Symptoms of atypical bone and joint development may limit movement and make it difficult to walk. These symptoms tend to worsen with age. In infants, fingers may be abnormally short and joints between bones may become fused together. Symptoms in infants may also include foot deformities. Approximately 1 in 100,000 newborns are diagnosed with diastrophic dysplasia.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Diastrophic Dysplasia" returned 23 free, full-text research articles on human participants. First 3 results:

Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene.
 

Author(s): Tao Cai, Liu Yang, Wanshi Cai, Sen Guo, Ping Yu, Jinchen Li, Xueyu Hu, Ming Yan, Qianzhi Shao, Yan Jin, Zhong Sheng Sun, Zhuo-Jing Luo

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Jun;112(26):8064-9.

 

Spondylolysis is a fracture in part of the vertebra with a reported prevalence of about 3-6% in the general population. Genetic etiology of this disorder remains unknown. The present study was aimed at identifying genomic mutations in patients with dysplastic spondylolysis as well ...

Last Updated: 1 Jul 2015

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Diastrophic dysplasia - variant.
 

Author(s): Aashima Dabas, Rajesh Khadgawat

Journal: Indian Pediatr. 2014 Feb;51(2):161.

 

Last Updated: 17 Mar 2014

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Diastrophic dysplasia sulfate transporter (SLC26A2) is expressed in the adrenal cortex and regulates aldosterone secretion.
 

Author(s): Ariadni Spyroglou, Tarik Bozoglu, Rajesh Rawal, Fabio De Leonardis, Christina Sterner, Sheerazed Boulkroun, Arndt G Benecke, Luca Monti, Maria-Christina Zennaro, Ann-Kristin Petersen, Angela Döring, Antonio Rossi, Martin Bidlingmaier, Richard Warth, Christian Gieger, Martin Reincke, Felix Beuschlein

Journal: Hypertension. 2014 May;63(5):1102-9.

 

Elucidation of the molecular mechanisms leading to autonomous aldosterone secretion is a prerequisite to define potential targets and biomarkers in the context of primary aldosteronism. After a genome-wide association study with subjects from the population-based Cooperative Health ...

Last Updated: 10 Apr 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 "Diastrophic Dysplasia" returned free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.