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.

Is there a cure for Stickler syndrome?

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 is Stickler syndrome type 3?

Stickler syndrome type III (STL3) has been described as the non-ocular form of Stickler syndrome, affecting the joints and hearing without involving the eyes. Stickler syndrome type III is caused by mutations of the COL11A2 gene on chromosome 6p21. 3. The inheritance pattern is autosomal dominant.

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.

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.

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.

What is Pierre Robin Syndrome?

Pierre Robin sequence is also known as Pierre Robin syndrome or Pierre Robin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence.

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.

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.

How do you get tested for Stickler syndrome?

Stickler syndrome
  1. Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.
  2. 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. …
  3. Hearing tests.

What is Stickler syndrome type 2?

Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of families linked to the gene encoding type II procollagen (COL2A1).

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.

What is Alports?

Alport syndrome is a disease that damages the tiny blood vessels in your kidneys. It can lead to kidney disease and kidney failure. It can also cause hearing loss and problems within the eyes. Alport syndrome causes damage to your kidneys by attacking the glomeruli.