Spondyloepiphyseal dysplasia congenita

Common Name(s)

Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. Arthritis and decreased joint mobility often develop early in life. More than 175 cases have been reported in the scientific literature. This condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant pattern. Most cases result from new mutations in the gene and occur in people with no family history of the condition.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloepiphyseal dysplasia congenita" for support, advocacy or research.

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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 congenita" returned 6 free, full-text research articles on human participants. First 3 results:

A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal dysplasia congenita, hearing loss, and retinoschisis.
 

Author(s): Leah Rae Donahue, Bo Chang, Subburaman Mohan, Nao Miyakoshi, Jon E Wergedal, David J Baylink, Norman L Hawes, Clifford J Rosen, Patricia Ward-Bailey, Qing Y Zheng, Roderick T Bronson, Kenneth R Johnson, Muriel T Davisson

Journal: J. Bone Miner. Res.. 2003 Sep;18(9):1612-21.

 

A missense mutation in the mouse Col2a1 gene has been discovered, resulting in a mouse phenotype with similarities to human spondyloepiphyseal dysplasia (SED) congenita. In addition, SED patients have been identified with a similar molecular mutation in human COL2A1. This mouse model ...

Last Updated: 12 Sep 2003

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An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
 

Author(s): G E Tiller, M A Weis, P A Polumbo, H E Gruber, D L Rimoin, D H Cohn, D R Eyre

Journal: Am. J. Hum. Genet.. 1995 Feb;56(2):388-95.

 

Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a ...

Last Updated: 9 Mar 1995

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The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen.
 

Author(s): W G Cole, R K Hall, J G Rogers

Journal: J. Med. Genet.. 1993 Jan;30(1):27-35.

 

The features of a child with spondyloepiphyseal dysplasia congenita resulting from a mutation in one COL2A1 allele were studied. The child was heterozygous for a G to A transition in exon 48 that resulted in the substitution of glycine 997 by serine in the triple helical domain of ...

Last Updated: 19 Feb 1993

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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 congenita" 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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