What Is Stickler Syndrome?

Stickler syndrome is a rare hereditary or genetic condition that affects the connective tissue in the body. More specifically, people with Stickler syndrome generally have a mutation in the genes that produce collagen.

Some of the common signs of Stickler syndrome include a distinctive facial appearance, hearing loss, eye conditions, and joint abnormalities.

This article discusses the signs, causes, diagnosis, and treatment of Stickler syndrome.

Signs and Symptoms

Gene mutations in Stickler syndrome can cause some or all of the following characteristics:

• Eye problems, such as nearsightedness, glaucoma, cataracts, and vitreoretinal degeneration (deterioration of the retina as well as the jelly-like fluid that fills the eye). It can also cause retinal holes or detachment, where the retina pulls away from the underlying tissue. Eye problems associated with Stickler syndrome can lead to blindness.
• Hearing loss that's sensorineural (from changes in the inner ear) or conductive (from abnormalities in the middle ear). It can also lead to recurrent ear infections, fluid in the ears, or hyper-mobility of the ear bones.
• Skeletal abnormalities, including a curved spine (scoliosis or kyphosis), hyper-mobile joints, early-onset arthritis, chest deformities, hip disorders of childhood (called Legg-Calve-Perthes disease), and generalized joint problems.
• Higher incidence of mitral valve prolapse than the general population, according to some research. Mitral valve prolapse is an excess of tissue on a heart valve that causes it to be "floppy," causing blood to flow the wrong way. For those with Stickler syndrome, the prevalence is 4%. In the general population, it's 2%.
• Teeth abnormalities including malocclusion (upper and lower teeth don't meet when biting).
• A flattened facial appearance sometimes referred to as Pierre-Robin sequence. This can include features such as cleft palate and bifid uvula (a split in the flap of tissue at the back of the throat). It can also include a high arched palate, a tongue that's further back than usual, a shortened chin, and a small lower jaw. Depending on the severity, these conditions can lead to feeding problems, especially during infancy.

Other features may include hypertonia (excessive muscle tone that causes stiffness), flat feet, and long fingers.

Stickler syndrome is very similar to a related condition called Marshall syndrome. However, individuals with Marshall syndrome usually have a shortened stature in addition to many symptoms of Stickler syndrome.

Stickler syndrome is divided into five subtypes, depending on which of the symptoms are present. Symptoms and severity vary greatly among individuals with Stickler syndrome, even within the same families.

Causes

The incidence of Stickler syndrome is estimated to be around 1 in 7,500 births. However, the condition is believed to be underdiagnosed.

Most cases of Stickler syndrome are passed from parents to children in an autosomal dominant pattern. That means just one copy of the gene mutation causes the condition. Very rarely, Sticker syndrome can be passed on in an autosomal recessive pattern. That means you inherit the same abnormal gene from each parent.

If a parent has Stickler syndrome, the risk of passing the condition on to a child is 50% for each pregnancy. Stickler syndrome occurs in both males and females.

Sometimes, Stickler syndrome is the result of a new gene mutation with no known cause.

The genes that cause Stickler syndrome are responsible for making the proteins that are needed to develop collagen. Collagen is a protein with a fiber-like structure that makes connective tissue in the body.

Diagnosis

Stickler syndrome may be suspected if you have characteristics or symptoms of this syndrome, especially if someone in your family has been diagnosed with Stickler syndrome.

Genetic testing may be helpful in diagnosing Stickler syndrome. There are currently no standard diagnosis criteria set forth by the medical community.

Medical tests, such as X-rays, may be ordered to evaluate different conditions associated with Sticker syndrome.

Treatment

Early recognition of Stickler syndrome is important so that associated conditions can be screened for and promptly treated. There is no cure for Stickler syndrome, but many treatments and therapies are available to help manage symptoms.

• Surgical correction of facial abnormalities such as cleft palate may be necessary to help with eating and breathing.
• Corrective lenses or surgery can be beneficial in treating eye problems.
• Hearing aids or surgical procedures such as the placement of ventilation tubes can correct or treat ear problems.
• Anti-inflammatory medications can be helpful in treating arthritis or joint problems. In severe cases, surgical replacements of joints may be necessary.

Summary

Stickler syndrome is a rare hereditary condition that affects connective tissues. It can cause distinctive facial characteristics, hearing loss, vision issues, and joint conditions. Your healthcare provider may use genetic testing to help diagnose Stickler syndrome.

While there is no cure, there are therapies to manage the symptoms and signs of the condition. These include hearing aids, corrective lenses for eye issues, and surgery for cleft palate.