Spondyloepiphyseal dysplasia

Common Name(s)

Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a genetic disorder present from birth. Symptoms include short stature, delayed bone development, and hearing and vision problems. Adults with spondyloepiphyseal dysplasia range in height from 3 feet to just over 4 feet. Those with spondyloepiphyseal dysplasia experience progressive curvature of the spine that can cause breathing problems during childhood. Other skeletal problems include flattened vertebrae, turned in foot, and hip problems. Arthritis and restricted movement may occur early in life due to joint problems. Spondyloepiphyseal dysplasia is caused by a mutation in a gene producing collagen, which helps provide the supportive framework of connective tissues in the body.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloepiphyseal 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 "Spondyloepiphyseal dysplasia" returned 44 free, full-text research articles on human participants. First 3 results:

Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.
 

Author(s): Xiangjun Huang, Xiong Deng, Hongbo Xu, Song Wu, Lamei Yuan, Zhijian Yang, Yan Yang, Hao Deng

Journal:

 

Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and ...

Last Updated: 2 Jun 2015

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Spondyloepiphyseal dysplasia tarda with progressive arthropathy associated with subcapsular cataract.
 

Author(s): Sanjay Kumar Mandal, Sudip Ghosh, Soumya Sarathi Mondal, Suman Chatterjee

Journal:

 

Spondyloepiphyseal dysplasia tarda with progressive arthropathy is a form of inherited skeletal dysplasia involving the axial skeleton along with swelling and deformities of the peripheral joints that mimics juvenile rheumatoid arthritis. We report a case of a 14-year-old school boy ...

Last Updated: 27 May 2014

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A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.
 

Author(s): X Y Xia, J Yu, W W Li, N Li, Q Y Wu, X Zhou, Y X Cui, X J Li

Journal:

 

Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive osteochondrodysplasia characterized by disproportionately short stature and degenerative joint disease. The objective of this study was to describe a novel nonsense mutation in the sedlin gene (SEDL) causing severe ...

Last Updated: 20 May 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 "Spondyloepiphyseal dysplasia" returned 2 free, full-text review articles on human participants. First 3 results:

A case report of spondyloepiphyseal dysplasia congenita.
 

Author(s): Y Gembun, Y Nakayama, Y Shirai, M Miyamoto, T Sawaizumi, S Kitamura

Journal: J Nippon Med Sch. 2001 Apr;68(2):186-9.

 

Spondyloepiphyseal dysplasia congenita (SED) is a rare form of skeletal systemic disease, characterized by congenital dwarfism with a short trunk and epiphysial dysplasia in the long bones and vertebral bodies. Patients also frequently suffer from atlanto-axial instability due to ...

Last Updated: 13 Apr 2001

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X-linked recessive spondyloepiphyseal dysplasia tarda. Clinical and radiographic evolution in a 6-generation kindred and review of the literature.
 

Author(s): M P Whyte, G S Gottesman, M C Eddy, W H McAlister

Journal: Medicine (Baltimore). 1999 Jan;78(1):9-25.

 

We characterize the clinical and radiographic evolution of X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) in a 6-generation kindred from Arkansas (SEDT(AK)). Our observations show the natural progression of SEDT(AK) and enable carrier detection by radiographic study. ...

Last Updated: 2 Mar 1999

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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