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Genetic and Rare Diseases Information Center (GARD)

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Stickler syndrome type 1


Other Names for this Disease

  • AOM
  • Arthroophthalmopathy, hereditary progressive
  • Stickler syndrome, membranous vitreous type
  • Stickler syndrome, vitreous type 1
  • STL1
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Overview

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

References

  1. 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.
  2. Stickler syndrome. Genetics Home Reference. July 2008; http://ghr.nlm.nih.gov/condition/stickler-syndrome. Accessed 2/8/2012.
  3. 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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Basic Information

  • Genetics Home Reference (GHR) contains information on Stickler syndrome type 1. 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) 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

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.¬†
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Stickler syndrome type 1. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AOM
  • Arthroophthalmopathy, hereditary progressive
  • Stickler syndrome, membranous vitreous type
  • Stickler syndrome, vitreous type 1
  • STL1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.