Symptoms and causes

Symptoms

The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — can vary widely from person to person.

  • Eye problems. In addition to severe nearsightedness, children who have Stickler syndrome often experience cataracts, glaucoma and retinal detachments.
  • Hearing difficulties. The extent of hearing loss varies among people who have Stickler syndrome. It usually affects the ability to hear high frequencies.
  • Bone and joint abnormalities. Children who have Stickler syndrome often have overly flexible joints and are more likely to develop abnormal curvatures of the spine, such as scoliosis. Osteoarthritis can begin in adolescence.

When to see a doctor

Regular follow-up visits, as well as yearly visits to doctors specializing in eye disorders, are crucial to monitor any progression of symptoms. Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter.

Causes

Stickler syndrome is caused by mutations in certain genes involved in the formation of collagen — one of the building blocks of many types of connective tissues. The type of collagen most commonly affected is that used to produce joint cartilage and the vitreous jelly found within the eyes.

Risk factors

Your child is more likely to be born with Stickler syndrome if either you or your partner has the disorder.

Complications

Potential complications of Stickler syndrome include:

  • Difficulty breathing or feeding. Breathing or feeding difficulties may occur in babies born with an opening in the roof of the mouth (cleft palate), a small lower jaw and a tendency for the tongue to drop back toward the throat.
  • Blindness. Blindness can occur 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 may worsen with time and a small percentage of people with Stickler syndrome eventually become completely deaf.
  • Heart problems. Some people with Stickler syndrome may be at higher risk of heart valve problems.
  • 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.
Oct. 29, 2016
References
  1. Kliegman RM, et al. Disorders involving cartilage matrix problems. In: Nelson Textbook of Pediatrics. 20th ed. Philadelphia, Pa.: Elsevier; 2016. http://www.clinicalkey.com. Accessed June 22, 2016.
  2. Petty RE, et al. Primary disorders of connective tissue. In: Textbook of Pediatric Rheumatology. 7th ed. Philadelphia, Pa.: Elsevier; 2016. http://www.clinicalkey.com. Accessed June 22, 2016.
  3. Herring JA. Orthopaedic-related syndromes. In: Tachdjian's Pediatric Orthopaedics. 5th ed. Philadelphia, Pa.: Saunders Elsevier; 2016. http://www.clinicalkey.com. Accessed June 22, 2016.
  4. Buchanan EP, et al. Syndromes with craniofacial abnormalities. http://www.uptodate.com/home. Accessed June 22, 2016.
  5. Pagon RA, et al., eds. Stickler syndrome. In: GeneReviews. Seattle, Wash.: University of Seattle, Washington; 1993-2016. http://www.ncbi.nlm.nih.gov/books/NBK1116. Accessed June 22, 2016.
  6. Yanoff M, et al. Hereditary vitreoretinopathies. In: Ophthalmology. 4th ed. Philadelphia, Pa.: Saunders Elsevier; 2014. http://www.clinicalkey.com. Accessed June 22, 2016.
  7. Couchouron T, et al. Early-onset progressive osteoarthritis with hereditary progressive ophthalmopathy or Stickler syndrome. Joint Bone Spine. 2011;78:45.
  8. Antunes RB, et al. Importance of early diagnosis of Stickler syndrome in newborns. Journal of Plastic, Reconstructive & Aesthetic Surgery. 2012;65:1029.
  9. Flint PW, et al. Genetic sensorineural hearing loss. In: Cummings Otolaryngology. 6th ed. Philadelphia, Pa.: Saunders Elsevier; 2015. http://www.clinicalkey.com. Accessed June 27, 2016.
  10. Daroff RB, et al. Disorders of bones, joints, ligaments and meninges. In: Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, Pa.: Saunders Elsevier; 2016. https://www.clinicalkey.com. Accessed June 27, 2016.
  11. Scholes MA, et al. Pediatric hearing loss. In: ENT Secrets. 4th ed. Philadelphia, Pa.: Elsevier; 2016. http://www.clinicalkey.com. Accessed June 27, 2016.