What is Stickler Syndrome?

father and daughter with cleft lip
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Stickler syndrome is a rare hereditary or genetic condition that affects the connective tissue in the body. More specifically, individuals with Stickler syndrome generally have a mutation in the genes that produce collagen. These gene mutations can cause some or all of the following characteristics of Stickler syndrome:

  • Eye problems - including nearsightedness, vitreoretinal degeneration, glaucoma, cataracts, and retinal holes or detachment. In some cases, eye problems associated with Stickler Syndrome can lead to blindness.
  • Abnormalities in the middle ear that can lead to mixed, sensorineural or conductive hearing loss, 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-Perthe's disease), and generalized joint problems.
  • Individuals with Stickler syndrome may have a  higher incidence of mitral valve prolapse than the general population, according to some research.
  • Teeth abnormalities including malocclusion.
  • A flattened facial appearance sometimes referred to as Pierre Robin sequence. This often includes features such as cleft palate, bifid uvula, a high arched palate, a tongue that is further back than usual, shortened chin, and a small lower jaw. Depending on the severity of these facial features (which varies widely between individuals), these conditions can lead to feeding problems, especially during infancy.
  • Other features may include hypertonia, flat feet, and long fingers.

Stickler syndrome is very similar to a related condition called Marshall syndrome, although individuals with Marshall syndrome usually have a shortened stature in addition to many symptoms of Stickler syndrome. Stickler syndrome is divided into five sub-types depending on which of the previously mentioned symptoms are present.

Symptoms and severity vary greatly between individuals with Stickler syndrome even within the same families.

What Causes Stickler Syndrome?

The incidence of Stickler syndrome is estimated to be around 1 in 7,500 births. However, the condition is believed to be under-diagnosed. Stickler syndrome is passed from parents to children in an autosomal dominant pattern. The risk of a parent with Stickler syndrome passing the condition on to a child is 50 percent for each pregnancy. Stickler syndrome occurs in both males and females.

How Is Stickler Syndrome Diagnosed?

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 but there is currently no standard diagnosis criteria set forth by the medical community.

How Is Stickler Syndrome Treated?

There is no cure for Stickler syndrome but many treatments and therapies exist for managing the symptoms of Stickler syndrome.

Early recognition or diagnosis of Stickler syndrome is important so that associated conditions can be screened for and promptly treated. 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. Sometimes anti-inflammatory medications can be helpful in treating arthritis or joint problems, in severe cases surgical replacements of joints may be necessary.


Genetics Home Reference. Stickler Syndrome.   https://ghr.nlm.nih.gov/condition/stickler-syndrome

National Organization for Rare Disorders. Stickler Syndrome. http://rarediseases.org/rare-diseases/stickler-syndrome/

The Marfan Foundation. Stickler Syndrome. https://www.marfan.org/stickler-syndrome

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