Stickler syndrome, type 3

Common Name(s)

Stickler syndrome, type 3

Stickler syndrome is a group of hereditary connective tissue disorders characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.  There are two subgroups of Stickler syndrome type I. One that is sometimes called the membranous vitreous type and another, which is solely or predominantly ocular. Both are caused by mutations in the  COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutation in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutation in the COL11A2 gene. These forms of Stickler syndrome follow an autosomal dominant pattern of inheritance. Stickler syndrome type IV is caused by mutation in the COL9A1 gene. Stickler syndrome type V is caused by mutation in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stickler syndrome, type 3" for support, advocacy or research.

Stickler Involved People

The mission of Stickler Involved People (SIP), a not-for-profit organization, is to educate and give support to all those affected by Stickler syndrome.

Last Updated: 19 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stickler syndrome, type 3" for support, advocacy or research.

Stickler Involved People

The mission of Stickler Involved People (SIP), a not-for-profit organization, is to educate and give support to all those affected by Stickler syndrome.

http://www.sticklers.org

Last Updated: 19 Mar 2013

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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 "Stickler syndrome, type 3" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Stickler syndrome, type 3" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.