Who discovered stickler syndrome?

Stickler syndrome is a progressive genetic disorder of connective tissue throughout the body. The condition was first described by Dr. Gunnar B. Stickler in 1965 and was originally called “Hereditary Progressive Arthro-ophthalmopathy” because of its tendency to affect the joints and the eyes.

Why does Stickler syndrome happen?

Stickler syndrome is caused by mutations in certain genes involved in the formation of collagen — one of the building blocks of many types of connective tissues. The type of collagen most commonly affected is that used to produce joint cartilage and the jellylike material (vitreous) found within the eyes.

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 NHS Stickler?

Stickler syndrome (SS) is a dominantly inherited disorder of connective tissue associated with retinal detachment, myopia (short-sight), cleft palate, deafness, and arthropathy. It is the commonest inherited cause of rhegmatogenous retinal detachment in childhood.

What is the life expectancy of 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.

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 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.

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 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?

What is Noonan syndrome?

Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.

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.