Stickler Syndrome
Posted on June 30th, 2007
Stickler syndrome (SS) is a connective tissue disorder, and is associated with problems of vision, hearing, facial and cleft palate, the joints and the heart.1 Problems with the eyes include near sightedness (myopia), astigmatism, and cataracts, with a substantial risk of retinal detachment. The associated heart problem is known as Mitral Valve Prolapse. Joint trouble is as a consequence of having hyperextinsible joints resulting in pain and stiffness as the child gets older. Osteoarthritis typically develops in the third or fourth decade.2
Patients usually do not have all of the symptoms and indeed SS proves difficult to diagnose because so few of the symptoms may manifest themselves. The majority of families with SS have mutations in the COL2A1 gene.3
There is a 50% chance of an affected parent passing on the gene.4 An estimated 1 in every 10,000 persons has Stickler syndrome, and many may not even know that they have it.
Irish families seeking further information should contact:
Theresa Corrigan, Tel. 042 9665548
- SIP (Stickler Involved People) (USA) [↩]
- Snead, MP, Yates, JR. Clinical and molecular genetics of Stickler syndrome. Journal of Medical Genetics, May 1999, 36(5):353-9. Fulltext at http://jmg.bmj.com/cgi/content/full/36/5/353 (accessed 30 June 2007) [↩]
- Ref:2 [↩]
- The Boys Town Research Registry for Hereditary Hearing Loss, Boys Town National Research Hospital, Omaha, Nebraska, USA. http://www.boystownhospital.org/Hearing/info/genetics/syndromes/stickler.asp (accessed 30 June 2007) [↩]
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