Stickler syndrome is a genetic disorder that causes problems with how the body makes collagen. Tissue in the body is not as strong or flexible without collagen. This causes vision, hearing, facial, bone, and joint problems.
Stickler syndrome is caused by faulty genes. They may be passed down from a parent or happen at random.
The most common problems happen to the eyes, bones, and joints. Some may be:
The doctor will ask about your child’s symptoms and health history. A physical exam will be done. This is often enough to make the diagnosis. Genetic testing may be done to confirm it. This can be done with blood tests.
The goal of treatment is to manage symptoms and prevent problems that can happen. Some activities may need to be avoided, such as high-impact or contact sports.
A team of specialists will work to care for your child. Treatment depends on the symptoms the child has. Medicine may be given to ease bone and joint inflammation. Surgery may be needed to improve breathing, vision, or bone and joint problems.
American Academy of Ophthalmology https://www.aao.org
GARD—Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov
Canadian Ophthalmological Society http://www.cos-sco.ca
CORD—Canadian Organization for Rare Disorders https://www.raredisorders.ca
Stickler syndrome. Children’s Hospital of Philadelphia website. Available at: https://www.chop.edu/conditions-diseases/stickler-syndrome. Accessed April 29, 2020.
Stickler syndrome. EBSCO DynaMed Plus website. Available at: https://www.dynamed.com/topics/dmp~AN~T922542/Stickler-syndrome . Updated August 28, 2019. Accessed April 29, 2020.
Stickler syndrome. GARD—Genetic and Rare Disease Information Center website. Available at: http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/stickler. Accessed April 29, 2020.
Stickler syndrome. Genetics Home Reference—US National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/stickler-syndrome. Updated August 28, 2019. Accessed April 29, 2020.
Stickler syndrome. Seattle Children’s Hospital website. Available at: http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/stickler. Accessed April 29, 2020.
Stickler syndrome. The Marfan Foundation website. Available at: http://www.marfan.org/stickler-syndrome. Accessed April 29, 2020.
What is Stickler syndrome? American Academy of Ophthalmology website. Available at: https://www.aao.org/eye-health/diseases/what-is-stickler-syndrome. Accessed April 29, 2020.
- Reviewer: EBSCO Medical Review Board Kari Kassir, MD
- Review Date: 04/2020
- Update Date: 05/22/2020