Spondyloenchondrodysplasia

Common Name(s)

Spondyloenchondrodysplasia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloenchondrodysplasia" 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 "Spondyloenchondrodysplasia" returned 4 free, full-text research articles on human participants. First 3 results:

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
 

Author(s): Tracy A Briggs, Gillian I Rice, Navid Adib, Lesley Ades, Stephane Barete, Kannan Baskar, Veronique Baudouin, Ayse N Cebeci, Philippe Clapuyt, David Coman, Lien De Somer, Yael Finezilber, Moshe Frydman, Ayla Guven, Sébastien Heritier, Daniela Karall, Muralidhar L Kulkarni, Pierre Lebon, David Levitt, Martine Le Merrer, Agnes Linglart, John H Livingston, Vincent Navarro, Ericka Okenfuss, Anne Puel, Nicole Revencu, Sabine Scholl-Bürgi, Marina Vivarelli, Carine Wouters, Brigitte Bader-Meunier, Yanick J Crow

Journal: J. Clin. Immunol.. 2016 Apr;36(3):220-34.

 

Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases.

Last Updated: 16 Mar 2016

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Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.
 

Author(s): Hermann Girschick, Christine Wolf, Henner Morbach, Christoph Hertzberg, Min Ae Lee-Kirsch

Journal:

 

Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. ...

Last Updated: 8 Sep 2015

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Dysmorphic facies and diffuse posterior spine ankylosis in a patient with unusual form of spondyloenchondrodysplasia (Spranger type IV).
 

Author(s): Ali Al Kaissi, Farid Ben Chehida, Maher Ben Ghachem, Klaus Klaushofer, Franz Grill

Journal: Eur Spine J. 2013 May;22 Suppl 3():S409-15.

 

We describe a male patient, who was seen for the first time at the age of 8 years because of short trunk dwarfism. Spine radiographs showed platyspondyly with irregular areas of increased and decreased mineralization (irregular spotted appearance within lytic lesions located along ...

Last Updated: 2 May 2013

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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 "Spondyloenchondrodysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.