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

 

Condition Specific 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 21 free, full-text research articles on human participants. First 3 results:

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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Health-related quality of life and socioeconomic situation among diastrophic dysplasia patients in Finland.
 

Author(s): Liisamari Krüger, Timo Pohjolainen, Ilkka Kaitila, Hannu Kautiainen, Marja Arkela-Kautiainen, Heikki Hurri

Journal: J Rehabil Med. 2013 Mar;45(3):308-13.

 

The purpose of the present study was to gain a comprehensive view of the quality of life and socio-economic conditions in a more representative sample of patients with diastrophic dysplasia than previously presented.

Last Updated: 6 Mar 2013

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Requirements for sulfate transport and the diastrophic dysplasia sulfate transporter in fibronectin matrix assembly.
 

Author(s): Leontine L Galante, Jean E Schwarzbauer

Journal: J. Cell Biol.. 2007 Dec;179(5):999-1009.

 

Diastrophic dysplasia sulfate transporter (DTDST) is a sulfate/chloride antiporter whose function is impaired in several human chondrodysplasias. We show that DTDST is upregulated by dexamethasone stimulation of HT1080 fibrosarcoma cells and is required for fibronectin (FN) extracellular ...

Last Updated: 6 Dec 2007

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

Diastrophic dysplasia: prenatal diagnosis and review of the literature.
 

Author(s): Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza

Journal: Sao Paulo Med J. 2013 ;131(2):127-32.

 

Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene). Abnormalities occurring particularly in the skeletal and cartilaginous system are typical of the disease, which has an incidence ...

Last Updated: 9 May 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.