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(Arthro-ophthalmopathy)

Definition

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.

Causes

Stickler syndrome is caused by faulty genes. They may be passed down from a parent or happen at random.

Risk Factors

This problem is more common in children whose parents carry the faulty genes.

Symptoms

The most common problems happen to the eyes, bones, and joints. Some may be:

  • Severe vision problems, such as problems seeing things that are far away or cloudy vision
  • Problems hearing or hearing loss
  • A face that looks broad or flat
  • A split in the roof of the mouth (cleft palate)
  • Bone abnormalities, such as loose joints or a curved spine

Diagnosis

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.

Treatment

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.

Prevention

There are no guidelines to prevent Stickler syndrome.

RESOURCES

American Academy of Ophthalmology  https://www.aao.org  

GARD—Genetic and Rare Diseases Information Center  https://rarediseases.info.nih.gov 

CANADIAN RESOURCES

Canadian Ophthalmological Society  http://www.cos-sco.ca 

CORD—Canadian Organization for Rare Disorders  https://www.raredisorders.ca 

References

Stickler syndrome. Children’s Hospital of Philadelphia website. Available at: https://www.chop.edu/conditions-diseases/stickler-syndrome. Accessed August 29, 2018.

Stickler syndrome. EBSCO DynaMed Plus website. Available at:  https://www.dynamed.com/topics/dmp~AN~T922542/Stickler-syndrome . Updated August 28, 2018. Accessed August 29, 2018.

Stickler syndrome. GARD—Genetic and Rare Disease Information Center website. Available at: http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/stickler. Accessed August 29, 2018.

Stickler syndrome. Genetics Home Reference—US National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/stickler-syndrome. Updated August 28, 2018. Accessed August 29, 2018.

Stickler syndrome. Seattle Children’s Hospital website. Available at: http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/stickler. Accessed August 29, 2018.

Stickler syndrome. The Marfan Foundation website. Available at: http://www.marfan.org/stickler-syndrome. Accessed August 29, 2018.

What is Stickler syndrome? American Academy of Ophthalmology website. Available at: https://www.aao.org/eye-health/diseases/what-is-stickler-syndrome. Updated November 7, 2012. Accessed August 29, 2018.

Revision Information

  • Review Date: 08/2018
  • Update Date: 05/22/2020