Stickler syndrome, type 2
Other Names for this Disease
- Stickler syndrome, vitreous type 2
- Stickler syndrome, beaded vitreous type
- STL 2
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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.
- Genetics Home Reference (GHR) contains information on Stickler syndrome, type 2. This website is maintained by the National Library of Medicine.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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, type 2. Click on the link to view a sample search on this topic.