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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 child to child. A combination of these signs and symptoms are common in children with Stickler syndrome:
- Severe nearsightedness. This common condition, also called myopia, is a vision disorder in which you can see near objects clearly, but objects farther away appear blurry. Children with Stickler syndrome are often born with severe nearsightedness.
- Eye problems. Several conditions, including clouding of the normally clear lens of the eye (cataracts), increased pressure in the eyeball (glaucoma), and tearing of the tissue at the back of the eye (retinal detachment) may be present at birth or occur later in children with Stickler syndrome. These conditions may impair your child's vision or, in some cases, cause blindness.
- Altered facial features. Children with Stickler syndrome often have a somewhat flattened facial structure with a small nose and a slight or absent nasal bridge. These altered features often become less distinctive with age.
- Hearing difficulties. The extent of hearing loss varies among people with this condition. The hearing loss associated with Stickler syndrome tends to worsen over time.
- Excessive joint flexibility. The ability to painlessly extend the joints beyond the normal range of motion is a characteristic of people with Stickler syndrome. As your child gets older, any extreme joint flexibility will likely lessen or disappear and your child may develop achy, swollen and stiff joints.
- Scoliosis. Scoliosis, an abnormal curvature of the spine, may be present in children with Stickler syndrome.
Other signs of Stickler syndrome may include slender arms and legs and long fingers.
When to see a doctor
Having Stickler syndrome increases your child's risk of serious eye complications. Call an eye specialist if your child experiences any of the following symptoms:
- A sudden onset or increase in floaters — tiny bits of debris floating in the eye that appear as clumps or strings
- Flashes of light in one or both eyes
- A shadow over a portion of the visual field
- A sudden blur in vision
These may be symptoms of retinal detachment, a serious eye condition requiring immediate surgical repair.
If you have Stickler syndrome and would like to have children, consider discussing your family plans with a genetic counselor. A genetic professional can explain how your disorder is inherited and its implications for your children, which may help you make informed personal decisions.
- Stickler syndrome. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition=sticklersyndrome. Accessed Sept. 4, 2008.
- Stickler GB [expert opinion]. Mayo Clinic, Rochester, Minn. March 28, 2008.
- About Stickler syndrome. Stickler Syndrome Support Group. www.stickler.org.uk/info.htm. Accessed Sept. 4, 2008.
- Francomano C, et al. Stickler syndrome. In: Cassidy SB, et al. Management of Genetic Syndromes. 2nd ed. Hoboken, N.J.: Wiley-Liss; 2005;539-546.
