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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How do you compare to others with this condition?

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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 40 free, full-text research articles on human participants. First 3 results:

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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Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.
 

Author(s): L H Cao, L Wang, C Y Ji, L B Wang, H W Ma, Y Luo

Journal:

 

Spondyloepiphyseal dysplasia (SED) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses and flattened vertebral bodies. SED is mainly caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We looked for mutations ...

Last Updated: 14 Jan 2013

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X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.
 

Author(s): Hyejin Ryu, Joonhong Park, Hyojin Chae, Myungshin Kim, Yonggoo Kim, In-Young Ok

Journal: Ann Lab Med. 2012 May;32(3):234-7.

 

Spondyloepiphyseal dysplasia (SED) comprises a heterogeneous group of skeletal dysplasias that primarily affect the epiphyses and vertebral bodies. Patients affected by SED usually exhibit short stature and experience early development of degenerative osteoarthritis. SED is subdivided ...

Last Updated: 7 May 2012

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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 1 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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis IV A; Mucopolysaccharidosis VI

 

Last Updated: 2 Aug 2013

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