Quick Answer: What Is Stickler Syndrome?

Is Stickler syndrome dominant or recessive?

Stickler syndrome caused by pathogenic variants COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant manner; Stickler syndrome caused by pathogenic variants in COL9A1, COL9A2, or COL9A3 is inherited in an autosomal recessive manner..

Do I have vascular EDS?

The signs and symptoms of vascular Ehlers-Danlos syndrome vary but may include: Fragile tissues (including arteries, muscles and internal organs ) that are prone to rupture. Thin, translucent skin. Characteristic facial appearance (thin lips, small chin, thin nose, large eyes)

What is the disease LDS?

Loeys-Dietz syndrome (LDS) is a disorder that affects the connective tissues of the body and increases the patient’s risk of aneurysms in arteries such as the aorta. This condition is rare and was only recently identified as a condition in 2005.

What is Stickler syndrome life expectancy?

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.

How does Stickler syndrome affect a person?

Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness.

Is Pierre Robin Syndrome hereditary?

Isolated Pierre Robin sequence is usually not inherited. It typically results from new (de novo) genetic changes and occurs in people with no history of the disorder in their family.

What is the cause of Stickler syndrome?

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 diagnosed?

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 many types of Stickler syndrome are there?

There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene. A metabolic defect concerning the hyaluronic acid and the collagen of the 2-d type is assumed to be the cause of this syndrome.

Which part of the eye is affected by Stickler syndrome GCSE?

In the eye it is found in the sclera, (the white of the eye) cornea and vitreous humour.

What does Glossoptosis mean?

Glossoptosis is a medical condition and abnormality which involves the downward displacement or retraction of the tongue. It may cause non-fusion of the hard palate, causing cleft palate. It is one of the features of Pierre Robin sequence and Down syndrome.

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.

Can Stickler syndrome be detected before birth?

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.

Is Stickler Syndrome life threatening?

While the symptoms of Stickler syndrome are generally not life threatening, your child may be at a higher risk for retinal detachment, a condition that can cause blindness if left untreated.

Which part of the eye is affected by Stickler syndrome?

The associated thin peripheral retina can lead to retinal breaks, holes, and retinal detachment and scarring which can permanently reduce vision. Cataracts (clouding of the lens in the eye) can reduce vision, and typically occur at a younger age in individuals with Stickler Syndrome.