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Stickler syndrome

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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.[1][2] 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.[1][2][3]
Last updated: 2/8/2012


  1. Nathaniel H Robin, Rocio T Moran, Matthew Warman, Leena Ala-Kokko. Stickler Syndrome. GeneReviews. October 21, 2010; Accessed 2/8/2012.
  2. Stickler syndrome. Genetics Home Reference. July 2008; Accessed 2/8/2012.
  3. Stickler Syndrome, Type I. Online Mendelian Inheritance in Man (OMIM). January 20, 2012; Accessed 2/8/2012.
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Basic Information

  • 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.

In Depth Information