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Preparing for your appointment
By Mayo Clinic staffIn some cases, the signs and symptoms of Stickler syndrome — such as facial abnormalities and eye problems — will be apparent while your child is still in the hospital after birth. Other times, your child won't be diagnosed until he or she is older.
After diagnosis, your child should be monitored regularly by doctors who specialize in areas specific to your child's problems. Depending on your child's needs, he or she may see a specialist in eye care (ophthalmologist); in ear, nose and throat care (otolaryngologist); or in joint care (rheumatologist). Since Stickler syndrome is a genetic condition, often care is coordinated by a medical geneticist.
What you can do
Before your appointment, you might want to write a list of answers to the following questions:
- Does your child seem to have any vision problems, such as blurry vision or seeing floaters or flashing lights?
- Does your child seem to have any trouble hearing?
- Have any of your child's symptoms worsened recently?
- Are your child's vision or hearing symptoms interfering with his or her schoolwork?
- What medications and supplements does your child take?
- Has anyone in your immediate or extended family had problems similar to this?
What to expect from your doctor
During the physical exam, your doctor may examine your child's face and mouth for features specific to Stickler syndrome. Your doctor may also extend your child's arms, legs and fingers to determine the extent of his or her flexibility.
- 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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