Stickler syndrome

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Preparing for your appointment

By Mayo Clinic staff

In 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.

During the initial appointment or appointments to diagnose your child, your doctor is likely to ask you a number of questions about your child's signs and symptoms. Be prepared to provide accurate answers to these questions:

  • Have you noticed any clouding in your child's eyes?
  • Does your child have difficulty seeing things that are far away?
  • 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?
  • Did your child start talking at a later age than expected?

During subsequent appointments, your child will likely meet with 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).

Because appointments go quickly and there's much to cover, it's a good idea to bring a list of your questions to each appointment. You might ask:

  • What kinds of tests will my child need?
  • What can we do at home to help manage my child's signs and symptoms?
  • Do you have any brochures or other printed material on Stickler syndrome I can take home with me?
References
  1. Stickler syndrome. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition=sticklersyndrome. Accessed Sept. 4, 2008.
  2. Stickler GB [expert opinion]. Mayo Clinic, Rochester, Minn. March 28, 2008.
  3. About Stickler syndrome. Stickler Syndrome Support Group. www.stickler.org.uk/info.htm. Accessed Sept. 4, 2008.
  4. Francomano C, et al. Stickler syndrome. In: Cassidy SB, et al. Management of Genetic Syndromes. 2nd ed. Hoboken, N.J.: Wiley-Liss; 2005;539-546.

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Dec. 4, 2008

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