Spondyloepimetaphyseal dysplasia Missouri type

Common Name(s)

Spondyloepimetaphyseal dysplasia Missouri type

Spondyloepimetaphyseal dysplasia Missouri type is a rare hereditary growth disorder which affects bone growth. Affected individuals typically are normal length at birth but, because of the effects on bone growth, do not grow as tall as unaffected individuals. This condition is also characterized by bowed legs and relatively short limbs.

The syndrome has been described in a large Missouri (US) family with 14 affected members in 4 generations.

Though some sudden improvement of the skeletal defects may occur in adolescence, the affected individuals typically remain shorter than unaffected individuals. Deformities can also lead to arthritis, specifically osteoarthritis, especially in the knee.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloepimetaphyseal dysplasia Missouri type" 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 "Spondyloepimetaphyseal dysplasia Missouri type" 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 "Spondyloepimetaphyseal dysplasia Missouri type" returned 1 free, full-text research articles on human participants. First 3 results:

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).
 

Author(s): Ann M Kennedy, Masaki Inada, Stephen M Krane, Paul T Christie, Brian Harding, Carlos López-Otín, Luis M Sánchez, Anna A J Pannett, Andrew Dearlove, Claire Hartley, Michael H Byrne, Anita A C Reed, M Andrew Nesbit, Michael P Whyte, Rajesh V Thakker

Journal: J. Clin. Invest.. 2005 Oct;115(10):2832-42.

 

MMPs, which degrade components of the ECM, have roles in embryonic development, tissue repair, cancer, arthritis, and cardiovascular disease. We show that a missense mutation of MMP13 causes the Missouri type of human spondyloepimetaphyseal dysplasia (SEMD(MO)), an autosomal dominant ...

Last Updated: 3 Oct 2005

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 "Spondyloepimetaphyseal dysplasia Missouri type" returned 0 free, full-text review articles on human participants.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.