Stickler syndrome is a genetic disorder that affects connective tissues primarily in the face, ears, eyes and joints. This hereditary condition causes distinctive facial abnormalities. It can lead to problems with vision, hearing and movement. Doctors usually diagnose Stickler syndrome in babies and children.
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.
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 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.
Can Stickler syndrome be cured?
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.
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.
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.
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.
How is Stickler diagnosed?
- 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 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 .
What is Crouzon syndrome?
Crouzon syndrome is a rare genetic disorder. It is a form of craniosynostosis, a condition in which there is premature fusion of the fibrous joints (sutures) between certain bones of the skull. The sutures allow an infant’s head to grow and expand. Eventually, these bones fuse together to form the skull.