What does Stickler syndrome look like?
What does Stickler syndrome look like?
Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped-out facial appearance and a receding chin. They are often born with an opening in the roof of the mouth (cleft palate).
What is the life expectancy of someone with Stickler syndrome?
Stickler syndrome has no cure, but it does not affect life expectancy. With ongoing treatment and support, many people with Stickler syndrome live active and fulfilling lives. Prompt diagnosis is important so a doctor can repair abnormalities and help prevent complications.
How does Stickler syndrome affect the eye?
The associated thin peripheral retina can lead to retinal breaks, holes, and retinal detachment and scarring which can permanently reduce vision. Cataracts (clouding of the lens in the eye) can reduce vision, and typically occur at a younger age in individuals with Stickler Syndrome.
What are the chances of getting Stickler syndrome?
A: Stickler syndrome is a fairly common genetic condition, occurring in about one in 7,500 people in the United States and Europe. It’s also frequently misdiagnosed—or even left undiagnosed—because many people have very mild cases.
Does Stickler syndrome get worse with age?
Features even vary among affected members of the same family. In some cases, a person may have multiple features, but only one problem is severe enough to be diagnosed. Stickler syndrome is also a progressive disorder; therefore, the symptoms are likely to worsen with age.
Is Stickler Syndrome a disability?
If you or your dependent(s) are diagnosed with Stickler Syndrome and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
Is Stickler syndrome a disability?
Does Stickler syndrome affect the heart?
Heart conditions— About 50 percent of kids with Stickler syndrome have a defect in which a valve in the heart doesn’t function properly (mitral valve prolapse). Symptoms vary, but can include feelings of fatigue or an elevated heartbeat; some children with mitral valve prolapse have no symptoms at all.
How is Stickler diagnosed?
Diagnosis
- Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.
- Eye exams. These exams can help your doctor detect problems with the jellylike material (vitreous) that fills the eye or with the lining of the eye (retina), which is crucial for sight.
- Hearing tests.
Is there a genetic test for Stickler syndrome?
Stickler syndrome can be diagnosed when a doctor observes many symptoms consistent with the syndrome. Genetic testing can be used to confirm the diagnosis. Treatment for Stickler syndrome may include surgeries, medications to reduce joint pain, and hearing aids.
What are the different types of Stickler syndrome?
There are five types of Stickler syndrome: Stickler syndrome type I, Stickler syndrome type II, Stickler syndrome type III, Stickler syndrome type IV, and Stickler syndrome type V. Individuals with Stickler syndrome type I tend to have milder hearing loss, nearsightedness, and type 1 membranous vitreous anomaly.
Can Stickler syndrome be detected before birth?
What about genetic testing? Molecular genetic testing can be used to diagnose Stickler syndrome. A clinical geneticist can discuss this in detail with you and arrange for it, if appropriate. Your doctor may suggest it to confirm a suspected diagnosis or for prenatal diagnosis.
How many people have Stickler syndrome?
Overall, the estimated prevalence of Stickler syndrome is about 1 in 10,000 people. Stickler syndrome affects 1 in 7,500 to 9,000 newborns.
Can Stickler syndrome be prevented?
While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications. In some cases, surgery may be needed to correct some of the physical abnormalities associated with Stickler syndrome.
What is sticklers disease?
Stickler syndrome is a progressive genetic disease of the connective tissue that causes abnormalities with vision, hearing and skeletal development. The name comes from Dr. G. B. Stickler, who initially described the condition in 1965.