Stickler syndrome

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Complications

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Potential complications include:

  • Difficulty breathing or feeding. Babies born with Pierre Robin sequence — which includes an opening in the roof of the mouth (cleft palate), a disproportionately large tongue and a small lower jaw — may experience difficulty feeding or breathing.
  • Blindness. Blindness can occur if glaucoma goes untreated or if retinal detachments aren't repaired promptly.
  • Ear infections. Children with facial structure abnormalities associated with Stickler syndrome are more likely to develop ear infections than are children with normal facial features.
  • Deafness. Hearing loss typically worsens with time, and a small percentage of people with Stickler syndrome eventually become completely deaf.
  • Heart problems. While some studies show that people with Stickler syndrome are at higher risk of heart valve problems, other studies have found no connection between the two conditions.
  • Dental problems. Most children who have Stickler syndrome have abnormally small jaws, so there often isn't enough room for the full complement of adult teeth. Braces or, in some cases, dental surgeries may be necessary.
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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