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Causes
By Mayo Clinic staffStickler syndrome is caused by mutations in certain genes involved in the formation of a class of proteins called collagen. Collagen is one of the building blocks of many types of connective tissues, which support your body's internal structures. The types of collagen affected most by Stickler syndrome are the varieties that make up:
- Cartilage, the tissue that cushions bones within joints
- Vitreous, the jelly-like fluid that fills the center of the eye
If you have Stickler syndrome and your partner does not, the chances that you'll pass the condition on to each of your children is 50 percent. Rarely, people may develop Stickler syndrome without having an affected parent. In these cases, Stickler syndrome results from a random mutation in one of your genes.
- Couchouron T, et al. Early-onset progressive osteoarthritis with hereditary progressive ophthalmopathy or Stickler syndrome. Joint Bone Spine. In press. Accessed Sept. 9, 2010.
- Stickler syndrome. Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nih.gov/condition/stickler-syndrome. Accessed Sept. 9, 2010.
- Stickler GB, et al. Clinical features of hereditary progressive Arthro-ophthalmopathy (Stickler syndrome): A survey. Genetics in Medicine. 2001;3:192.
- Stickler syndrome. National Organization for Rare Disorders. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Stickler%20Syndrome. Accessed Sept. 10, 2010.
- Rose PS, et al. Stickler syndrome: Clinical characteristics and diagnostic criteria. American Journal of Medical Genetics. 2005;138A:199.
- Lansford, M. Focus on the physical assessment of the infant with Stickler syndrome. Advances in Neonatal Care. 2008;8:308.
- Robin NH, et al. GeneReviews: Stickler syndrome. National Center for Biotechnology Information. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=stickler. Accessed Sept. 14, 2010.
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