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Symptoms
By Mayo Clinic staffThe signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — vary widely from person to person. A combination of these signs and symptoms is common in people who have Stickler syndrome.
Pierre Robin sequence
Many people who have Stickler syndrome were born with a cluster of birth defects that may make breathing and feeding difficult. Called the Pierre Robin sequence, this combination of birth defects may include a cleft palate, a small jaw and a tongue that falls back toward the throat.
Altered facial features
Children with Stickler syndrome often have a somewhat flattened facial structure with a small nose and a flat or recessed nasal bridge. The chin is typically foreshortened. These features often become less distinctive with age.
Eye problems
Children who have Stickler syndrome often experience eye disorders more commonly associated with older adults.
- Severe nearsightedness. Children with Stickler syndrome are often born with severe nearsightedness, a vision disorder in which you can see near objects clearly, but objects farther away appear blurry.
- Cataracts. Some children with Stickler syndrome are born with cataracts, a clouding of the focusing lens within the eye. Cataracts also may develop later in childhood.
- Glaucoma. Glaucoma causes the pressure within the eye to increase, sometimes to the point that the optic nerve is damaged.
- Retinal detachments. Problems with the lining of the eyeball, called the retina, are common with Stickler's syndrome. The retina is crucial to vision, so blindness can result if it pulls away or tears free from the back of the eyeball.
Hearing difficulties
The extent of hearing loss varies among people who have Stickler syndrome. It usually affects the ability to hear high frequencies and tends to worsen over time.
Bone and joint abnormalities
- Excessive joint flexibility. Children who have Stickler syndrome often can painlessly extend their joints beyond the normal range of motion. This ability tends to lessen with age.
- Osteoarthritis. Premature arthritis, sometimes beginning in childhood, is common in Stickler syndrome.
- Long fingers. Many people who have Stickler syndrome have long fingers, often with enlarged knuckles.
- Scoliosis. Abnormal curvatures of the spine, such as scoliosis, sometimes occur in children with Stickler syndrome. Growing children should be carefully monitored for development of scoliosis so that early treatment can be provided when indicated.
When to see a doctor
Regular follow-up visits, particularly with 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 regularly, especially in children.
- Couchouron T, et al. Early-onset progressive osteoarthritis with hereditary progressive ophthalmopathy or Stickler syndrome. Joint Bone Spine. In press. Accessed Sept. 9, 2010.
- Stickler syndrome. Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nih.gov/condition/stickler-syndrome. Accessed Sept. 9, 2010.
- Stickler GB, et al. Clinical features of hereditary progressive Arthro-ophthalmopathy (Stickler syndrome): A survey. Genetics in Medicine. 2001;3:192.
- Stickler syndrome. National Organization for Rare Disorders. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Stickler%20Syndrome. Accessed Sept. 10, 2010.
- Rose PS, et al. Stickler syndrome: Clinical characteristics and diagnostic criteria. American Journal of Medical Genetics. 2005;138A:199.
- Lansford, M. Focus on the physical assessment of the infant with Stickler syndrome. Advances in Neonatal Care. 2008;8:308.
- 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.
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