Spondyloepiphyseal dysplasia tarda progressive arthropathy

Common Name(s)

Spondyloepiphyseal dysplasia tarda progressive arthropathy, Progressive pseudorheumatoid dysplasia, Progressive Pseudorheumatoid Arthropathy of Childhood

Spondyloepiphyseal dysplasia tarda progressive arthropathy is a rare disorder of bone and cartilage that causes the skeleton to develop abnormally. Major signs and symptoms, include stiff or frozen joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. This condition may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory signs of juvenile rheumatoid arthritis. It is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.

Other forms of spondyloepiphyseal dysplasia tarda include:

X-linked spondyloepiphyseal dysplasia tarda 
Autosomal dominant spondyloepiphyseal dysplasia tarda 
Spondyloepiphyseal dysplasia tarda Toledo type

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloepiphyseal dysplasia tarda progressive arthropathy" 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 "Spondyloepiphyseal dysplasia tarda progressive arthropathy" returned 3 free, full-text research articles on human participants. First 3 results:

Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
 

Author(s): Ece Kaptanoğlu, Ferda Perçin, Sitki Perçin, Ayça Törel-Ergür

Journal: Turk. J. Pediatr.. ;46(4):380-3.

 

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare autosomal recessive skeletal dysplasia affecting primarily the articular cartilage. Here we present a nine-year-old girl from Middle Anatolia (Sivas) with SEDT-PA. Her complaints were pain and progressive ...

Last Updated: 11 Jan 2005

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Spondyloepiphyseal dysplasia tarda with progressive arthropathy: a rare disorder frequently diagnosed among Arabs.
 

Author(s): A S Teebi, S A Al Awadi

Journal: J. Med. Genet.. 1986 Apr;23(2):189-91.

 

Last Updated: 27 Jun 1986

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Spondyloepiphyseal dysplasia tarda with progressive arthropathy.
 

Author(s): S A Al-Awadi, T I Fårag, K Naguib, M Y El-Khalifa, A Cuschieri, G Hosny, M Zahran, A G Al-Ansari

Journal: J. Med. Genet.. 1984 Jun;21(3):193-6.

 

We present a family with numerous first cousin marriages and several members affected with spondyloepiphyseal dysplasia tarda with progressive arthropathy causing severe crippling and deformity. The extensive pedigree provides strong evidence for autosomal recessive inheritance.

Last Updated: 24 Aug 1984

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Reviews from the PubMed Database

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The terms "Spondyloepiphyseal dysplasia tarda progressive arthropathy" returned 0 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.