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connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.Stickler syndrome is a group of hereditary
Last updated: 2/8/2012
- Nathaniel H Robin, Rocio T Moran, Matthew Warman, Leena Ala-Kokko. Stickler Syndrome. GeneReviews. October 21, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1302/. Accessed 2/8/2012.
- Stickler syndrome. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition/stickler-syndrome. Accessed 2/8/2012.
- Stickler Syndrome, Type I. Online Mendelian Inheritance in Man (OMIM). January 20, 2012; http://omim.org/entry/108300. Accessed 2/8/2012.
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- Genetics Home Reference (GHR) contains information on Stickler syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of Stickler syndrome. Click on the links below to go to OMIM and review these resources.
Stickler syndrome type 1 http://www.ncbi.nlm.nih.gov/omim/108300
Stickler syndrome type 2 http://www.ncbi.nlm.nih.gov/omim/108300
Stickler syndrome type 3 http://www.ncbi.nlm.nih.gov/omim/184840
Stickler syndrome type 1, nonsyndromic ocular http://www.ncbi.nlm.nih.gov/omim/609508
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Stickler syndrome. Click on the link to view a sample search on this topic.