Can stickler syndrome be prevented?

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.

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.

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.

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 .

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.

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 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.

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.

How do you get tested for Stickler syndrome?

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.

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.

How does Stickler syndrome affect a person?

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.

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.

What does stickler for the rules mean?

1 : one who insists on exactness or completeness in the observance of something a stickler for the rules. 2 : something that baffles or puzzles : poser.