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.

How do you get tested for Stickler syndrome?

When is Stickler syndrome diagnosed?

Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood. 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.

How common is Stickler syndrome?

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.

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.

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.

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.

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.

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 .

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.

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.

What’s Marshall syndrome?

Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.

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.

What are the characteristics of Williams syndrome?

Newborns with Williams syndrome have characteristic “elfin-like” facial features including an unusually small head (microcephaly), full cheeks, an abnormally broad forehead, puffiness around the eyes and lips, a depressed nasal bridge, broad nose, and/or an unusually wide and prominent open mouth.