Overview. Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood.
Is Stickler syndrome life threatening?
A: While the symptoms of Stickler syndrome are generally not life threatening, your child may be at a higher risk for retinal detachment, a condition that can cause blindness if left untreated.
What is the cause of Stickler syndrome?
Stickler syndrome is caused by genetic changes ( mutations or pathogenic variants) in one of six genes : COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3. These genes are all responsible for providing instructions to the body to produce collagen.
How do you get tested for Stickler syndrome?
- 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.
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.
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.
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).
How do you prevent Stickler syndrome?
You cannot prevent Stickler syndrome. People with a family history of the condition who want to have children should seek genetic counseling to learn about the risk of having a child with the disorder.
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 many types of Stickler syndrome are there?
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 you screen for Stickler syndrome?
Stickler syndrome is diagnosed with a physical examination, although there is currently no consensus as to the diagnostic criteria. The diagnosis can be confirmed by testing for mutations within genes called COL2A1, COL11A1 and COL11A2 for cases of autosomal dominant types of Stickler syndrome.
Can Stickler syndrome skip a generation?
Unlike some genetic syndromes, a person will not have a “carrier” gene for this disorder that can be passed on to the next generation without the parent having Stickler syndrome themselves.
How is Stickler syndrome inherited?
Stickler syndrome types I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation from one affected parent . Other cases result from new mutations .