Know the Signs, Fight for Victory

What is Stickler Syndrome?

Stickler syndrome is a group of genetic conditions that affects connective tissue, specifically collagen. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems.

Stickler Involved People, a partner of The Marfan Foundation, provides additional information for those affected by Stickler syndrome.

What are the Key Features of Stickler Syndrome?

Usually people don’t have all of these symptoms and the features can vary widely from person to person. Even members of the same family can have different symptoms. Or, a person may have multiple symptoms but only one that is is severe enough to trigger a diagnosis.

When a person has these features, it is important to be evaluated for Stickler syndrome.

To learn more about Stickler syndrome and its diagnosis and treatment:

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  • Eyes, Head and Neck

    • Near sightedness, astigmatism, cataracts. More serious problems include the gel which fills the eye deteriorating, the retina deteriorating, eyes moving independent of each other, and glaucoma, hearing loss in middle or inner ear, deafness in extreme cases
  • Bones

    • Arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double jointed
  • Other

    • Flat cheeks
    • Flat nasal bridge
    • Small upper jaw
    • Pronounced upper lip groove
    • Small lower jaw
    • Palate abnormalities are possible

Getting Diagnosed with Stickler Syndrome

The diagnosis of Stickler syndrome can be made through a clinical exam and a genetic test. Diagnosis through a clinical exam is based on diagnostic criteria, using a 12-point system established by the National Institutes of Health. The physician evaluates changes in the eyes, ears, bones and joints, face, and palate (roof of the mouth). Family medical history is also considered. Genetic testing is also available to identify mutations in 5 collagen genes which can cause Sticklers.

Stickler is believed to be the most common syndrome in the United States and Europe, but one of the rarest to be diagnosed. Most sufferers have such minor symptoms that they do not seek a diagnoses. Those who become patients are generally not correctly diagnosed. One study found a 53% error in original diagnosis of patients found in retrospect to have Stickler. A lot of patients are only diagnosed with one symptom and called, for example, arthritic or near-sighted. It is estimated that 1 in 10,000 people have Stickler Syndrome and only a fraction of them know it.

Expression and severity of symptoms will vary among individuals in the same family, but Stickler syndrome can be recognized by:

  • myopia beginning in first decade of life and likely retinal detachment
  • vitreous anomalies
  • cataracts and glaucoma
  • progressive sensorineural and/or conductive hearing loss
  • chronic otitis media
  • flattened facial structure
  • palate abnormalities
  • Pierre-Robin sequence
  • premature degenerative joint changes
  • excessive joint flexibility

Treatment and evaluation may include:

  • ophthalmic assessment by an ophthalmologist or retinal specialist
  • corrective lenses
  • prophylactic laser or cryo retinal treatment
  • hearing and otolaryngology evaluation
  • hearing aids
  • speech and feeding evaluation
  • skeletal survey
  • rheumatology consultation
  • anti-inflammatory and pain medications
  • surgery
  • physical therapy and appropriate exercise
  • genetic consultation
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What Causes Stickler Syndrome?

Stickler syndrome is caused by mutations in the collagen genes. (COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2). An inconclusive genetic test does not mean a person does not have Stickler syndrome because a person may have a gene mutation that has not yet been identified. There are at least three unknown gene mutation locations.

How is Stickler Syndrome Managed?

Common treatments for people with Stickler syndrome can improve or correct many of its features.

  • Glasses or contact lenses can correct vision.
  • Frequent retinal exams can track any changes or deterioration in the retina; then, preventative laser retinal surgery can be done before the retina detaches.
  • Hearing aides can be used to overcome hearing loss.
  • Bone and joint problems, which may require a rheumatology evaluation including a full-body x-ray, can be addressed with splints, braces, or aids; pain management/anti-inflammatory medications; and/or rehabilitation or physical therapy.
  • Children with Stickler syndrome and/or Pierre-Robin sequence (PRS) may need a feeding evaluation, palate or jaw surgery, orthodontics, or speech therapy.

Additional Resources Related to Stickler Syndrome

Pregnancy and Stickler Syndrome

Decisions about family planning can be difficult and very emotional when one of the prospective parents has a genetic condition, such as Stickler syndrome. Before making any decisions, parents should understand the many options now available, as well as the potential risks to the child and the mother. A genetic counselor can discuss the options with you and provide insights.

Emergency Preparedness

Stickler syndrome can put a person at an increased risk of retinal detachment which is an emergency situation. Frequent retinal exams can track any changes or deterioration in the retina; then, preventative laser retinal surgery can be done before the retina detaches.

Early Symptoms of Retinal Detachment

  • Bright flashes of light, especially in peripheral vision
  • Translucent specks of various shapes (floaters) in the eye
  • Blurred vision
  • Shadow or blindness in a part of the visual field of one eye

The symptoms may occur gradually or quite suddenly. They do not always mean a retinal detachment is present, but they do require seeing an eye doctor immediately.

Surgery is required to repair a retinal detachment. Immediate treatment is recommended usually within the first 24 hours; the longer the wait, the greater the chance that the retinal detachment will become more severe or even total. The more severe the detachment, the more complicated the surgery is and the less vision may be recovered.

Your vision after a retinal detachment depends on the location and extent of the detachment, and how quickly you receive treatment. If the macula was not damaged, the outlook after survey can be good. Any surgery has its risks; however, an untreated retinal detachment usually results in permanent, severe vision loss or blindness.

As in any emergency, it is best to be prepared in advance. Keep your medical history, such as medical and personal contact information, legal documentation, and allergies, handy to take with you to the hospital.

Download the Emergency Preparedness Kit for Marfan Syndrome to record your medical history in case of emergency along with a downloadable fact sheet on Stickler Syndrome.