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.
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); in joint care (rheumatologist); or in spine care (orthopedist). 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:
- Has anyone in your immediate or extended family had problems similar to this?
- What medications and supplements does your child take?
- Are your child's vision or hearing problems interfering with his or her schoolwork?
What to expect from your doctor
Your doctor may ask some of the following questions:
Jan. 28, 2014
- Does your child seem to have any vision problems?
- Has your child ever seen an abundance of floaters or flashing lights within his or her eyes?
- Does your child seem to have any trouble hearing?
- Have any of your child's symptoms worsened recently?
- Does your child limp or complain of joint pain?
- Kliegman RM, et al. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/208746819-6/0/1608/0.html. Accessed May 29, 2013.
- Snead MP, et al. Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist. Eye. 2011;25:1389.
- Couchouron T, et al. Early-onset progressive osteoarthritis with hereditary progressive ophthalmopathy or Stickler syndrome. Joint Bone Spine. 2010;78:45.
- Buchanan EP, et al. Syndromes with craniofacial abnormalities. http://www.uptodate.com/home. Accessed May 29, 2013.
- Pagon RA, et al. GeneReviews. Seattle, Wash.: University of Washington, Seattle; 2011. http://www.ncbi.nlm.nih.gov/books/NBK1302. Accessed May 30, 2013.
- Acke FR, et al. Hearing impairment in Stickler syndrome: A systematic review. Orphanet Journal of Rare Diseases. 2012;7:84.
- Michels VV (expert opinion). Mayo Clinic, Rochester, Minn. July 24, 2013.
- Daroff RB, et al. Bradley's Neurology in Clinical Practice. 6th ed. Philadelphia, Pa.: Saunders Elsevier; 2012. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-1-4377-0434-1..C2009-0-40427-6--TOP&isbn=978-1-4377-0434-1&uniqId=364938937-2. Accessed May 29, 2013.