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.

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

Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family.
 

Author(s): Sang Wan Chung, Eun Ha Kang, Yun Jong Lee, You Jung Ha, Yeong Wook Song

Journal: Yonsei Med. J.. 2016 Sep;57(5):1290-3.

 

Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three ...

Last Updated: 31 Dec 1969

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A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred.
 

Author(s): A M Waryah, M Shahzad, H Shaikh, S A Sheikh, N A Channa, R B Hufnagel, A Makhdoom, S Riazuddin, Z M Ahmed

Journal: Clin. Genet.. 2016 Jul;90(1):90-5.

 

Skeletal dysplasias (SDs) are highly heterogeneous disorders composed of 40 clinical sub-types that are part of 456 well-delineated syndromes in humans. Here, we enrolled consanguineous kindred from a remote area of Sindh province of Pakistan, with 14 affected individuals suffering ...

Last Updated: 31 Dec 1969

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Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type.
 

Author(s): Julie Jurgens, Nara Sobreira, Peggy Modaff, Catherine A Reiser, Soo Hyun Seo, Moon-Woo Seong, Sung Sup Park, Ok Hwa Kim, Tae-Joon Cho, Richard M Pauli

Journal: Hum. Mutat.. 2015 Oct;36(10):1004-8.

 

Progressive pseudorheumatoid dysplasia (PPRD) is a rare, autosomal-recessive condition characterized by mild spondyloepiphyseal dysplasia (SED) and severe, progressive, early-onset arthritis due to WISP3 mutations. SED, Stanescu type, is a vaguely delineated autosomal-dominant dysplasia ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.