Stickler syndrome

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Treatments and drugs

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There's no cure for Stickler syndrome. Treatment addresses the signs and symptoms of the disorder.

Medications

  • NSAIDs. Nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (Advil, Motrin, others) and naproxen (Aleve, Naprosyn, others) may help relieve joint swelling, stiffness and pain. Taking these medications before or after physical activity may help your child move more comfortably. Don't give aspirin to children younger than age 14 because of the risk of Reye's syndrome.
  • Glaucoma drugs. Children who have glaucoma will need to take daily medications to control the pressure within their eyes. Most of these types of medications come in the form of eyedrops.

Sensory aids

  • Corrective lenses. Corrective lenses are important for treating the severe nearsightedness associated with Stickler syndrome.
  • Hearing aids. If your child has problems hearing, you may find that his or her quality of life is improved by wearing a hearing aid.

Therapy

  • Speech therapy. Your child may need speech therapy if hearing loss interferes with his or her ability to learn how to pronounce certain sounds.
  • Special education. Hearing or vision problems may cause learning difficulty in school, so special education services may be helpful.
  • Physical therapy. In some cases, physical therapy may help with mobility problems associated with joint pain and stiffness. Equipment such as braces, canes and arch supports may also help.

Surgery

  • Tracheostomy. Newborns with very small jaws and large tongues may need a tracheostomy to create a hole in the throat so they can breathe. The operation is reversed once the baby has grown large enough that his or her airway is no longer blocked.
  • Jaw surgery. Surgeons can lengthen the lower jaw by breaking the jawbone and implanting a device that will gradually stretch the bone as it heals.
  • Cleft palate repair. Babies born with a hole in the roof in the mouth (cleft palate) typically undergo surgery in which tissue from the roof of the mouth may be stretched to cover the cleft palate.
  • Ear tubes. The surgical placement of a short plastic tube in the eardrum can help reduce the frequency and severity of ear infections, which are especially common in children who have Stickler syndrome.
  • Eye surgeries. Surgeries to remove cataracts or procedures to reattach the retina, the lining of the back of the eye, may be necessary to preserve vision.
  • Joint replacement. Early onset arthritis, particularly in the hips and knees, may necessitate joint replacement surgeries at a much younger age than is typical for the general population.
References
  1. Couchouron T, et al. Early-onset progressive osteoarthritis with hereditary progressive ophthalmopathy or Stickler syndrome. Joint Bone Spine. In press. Accessed Sept. 9, 2010.
  2. Stickler syndrome. Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nih.gov/condition/stickler-syndrome. Accessed Sept. 9, 2010.
  3. Stickler GB, et al. Clinical features of hereditary progressive Arthro-ophthalmopathy (Stickler syndrome): A survey. Genetics in Medicine. 2001;3:192.
  4. Stickler syndrome. National Organization for Rare Disorders. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Stickler%20Syndrome. Accessed Sept. 10, 2010.
  5. Rose PS, et al. Stickler syndrome: Clinical characteristics and diagnostic criteria. American Journal of Medical Genetics. 2005;138A:199.
  6. Lansford, M. Focus on the physical assessment of the infant with Stickler syndrome. Advances in Neonatal Care. 2008;8:308.
  7. 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.
DS00831 Dec. 4, 2010

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