What is Stickler syndrome?

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.

What is Stickler syndrome life expectancy?

What is the prognosis (outlook) for people with Stickler syndrome? Stickler syndrome has no cure, but it does not affect life expectancy.

Does Stickler syndrome affect intelligence?

In Stickler syndrome, the body does not make collagen correctly. As a result, many children with this condition have joint problems, hearing loss and differences in how their face looks. Usually children with this condition have normal intelligence.

How is Stickler syndrome diagnosed?

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.

Is Stickler syndrome a rare disease?

Stickler syndrome affects males as well as females. Prevalence rates have been estimated at 1-3 per 10,000 births and at 1 per 7,500 births. Most investigators believe that the disorder is highly under-diagnosed, making it difficult to determine the true prevalence of Stickler syndrome in the general population.

Stickler Syndrome-Mayo Clinic

What do people with 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 treatment for Stickler syndrome?

The surgical placement of a short plastic tube in the eardrum can help reduce the frequency and severity of ear infections, which are especially common in children who have Stickler syndrome. Eye surgeries.

How does Stickler syndrome affect the eyes?

Extreme myopia (nearsightedness) is one of the earliest and most characteristic signs of Stickler Syndrome. The associated thin peripheral retina can lead to retinal breaks, holes, and retinal detachment and scarring which can permanently reduce vision.

Are there prenatal tests for Stickler syndrome?

Genetic investigations and familial history must be taken into account. Here, in a context of familial Stickler syndrome, making the prenatal diagnosis of PRS as part of Stickler syndrome allowed us to reassure the parents and to anticipate airway trouble at the child's birth.

What percentage of people have Stickler syndrome?

It's often misdiagnosed (or undiagnosed because of the mildness of the symptoms), but about one in 7,500 people in the United States and Europe have Stickler syndrome. It's the most common cause of retinal detachment (which can cause blindness if left untreated) in children.

Does Stickler syndrome affect fertility?

Since Stickler syndrome is a collagen disorder, it is possible to expect pregnancy complications similar to those reported in other collagen disorders. To our knowledge, there is only one case report in the literature on the management of pregnancy and delivery of a patient with Stickler syndrome.