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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 9 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

Go To URL
Modified lightwand intubation in a child with spondyloepiphyseal dysplasia congenita.
 

Author(s): Chih-Peng Lin, Chang-Fu Su, Wen-Ying Lin, Jing-Yi Jan, Chuen-Shin Jeng, Feng-Sheng Lin, Shou-Zen Fan

Journal: Acta Anaesthesiol Taiwan. 2011 Jun;49(2):66-8.

 

This is the case report on a 1-year 9-month-old boy suffering from spondyloepiphyseal dysplasia congenita who was successfully intubated with our modified lightwand intubation procedure for general anesthesia to undergo bilateral herniorrhaphy despite the great likelihood of facing ...

Last Updated: 6 Jul 2011

Go To URL
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

Go To URL

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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.