Stickler Syndrome

What is Stickler syndrome?

Stickler syndrome is a genetic condition that affects connective tissues that support and give structure to other organs in your body, primarily in the face, ears, eyes and joints. This hereditary condition can cause facial abnormalities like a cleft palate. The condition can lead to problems with vision, hearing and movement.

Stickler syndrome is also known as Stickler dysplasia.

Who does Stickler syndrome affect?

Stickler syndrome can affect anyone. People who have a family member with Stickler syndrome are at a higher risk of having the condition. But in some people, a spontaneous genetic change (mutation) causes the condition and there’s no tie to family history.

How common is Stickler syndrome?

Stickler syndrome occurs in roughly 1 to 3 out of 7,500 to 10,000 newborns. The exact rate of occurrence among the general population is unknown because many cases of Stickler syndrome go undiagnosed. In the U.S., Stickler syndrome is one of the most common connective tissue conditions that exists.

How does Stickler syndrome affect my body?

Stickler syndrome affects connective tissues in your body, which are responsible for protecting and supporting other tissues and organs. Because a mutation of a gene responsible for making connective tissue didn’t receive instructions on how to form and function, symptoms of the condition affect how you see, hear and move, targeting your eyes, ears and joints. It’s common for people diagnosed with Stickler syndrome to have arthritis at a young age. Treatment addresses symptoms of Stickler syndrome to allow those diagnosed with the condition to live full and active lives.

What are the symptoms of Stickler syndrome?

Symptoms of Stickler syndrome vary from person to person. It’s rare for people to experience all of the symptoms associated with the condition. Symptoms of Stickler syndrome could include:

• Bone and joint problems including overly flexible joints that become stiff over time, scoliosis (spine curvature) and arthritis.
• Ear and hearing problems including hearing loss.
• Ocular (eye) problems including severe nearsightedness (myopia), detached retina or cataracts.

Additional symptoms could include:

• Breathing problems.
• Deafness.
• Eye problems, including glaucoma, cataracts or blindness.
• Feeding difficulties in babies.
• Joint problems including loose or hypermobile (flexible) joints and arthritis.
• Learning challenges due to vision and hearing problems.

Facial characteristics

Many children with the condition have symptoms that affect how the structure of their faces develops. These symptoms include:

• Cleft palate: A split in the roof of a person’s mouth.
• Micrognathia: An abnormally small and recessed lower jaw, known as Pierre Robin sequence.
• Flattened face with a small nose.

What is the difference between each type of Stickler syndrome?

There are six types of Stickler syndrome. Symptoms of each type range in severity as the types increase in number. Types I through III are most common – with type I being the most common. Types IV, V and VI are extremely rare. Symptoms for each type include:

• Type I: Mild hearing loss, nearsightedness.
• Type II: Severe hearing loss, nearsightedness.
• Type III: Hearing loss, joint problems. There are no vision symptoms.
• Type IV: Severe hearing and vision loss, mild enlargement of the ends of long bones (spondyloepiphyseal dysplasia), arthritis.
• Type V: Severe hearing and vision loss, underdeveloped mid-face or a cleft palate, mild enlargement of the ends of long bones (spondyloepiphyseal dysplasia), arthritis.
• Type VI: Severe nearsightedness, early-onset severe hearing loss, joint pain, misshapen bones.

What causes Stickler syndrome?

A genetic mutation of one of six genes causes Stickler syndrome. The six genes are:

• COL2A1.
• COL11A1.
• COL11A2.
• COL9A1.
• COL9A2.
• COL9A3.

These genes are responsible for forming collagen (proteins that add flexibility and strength to connective tissue). When a genetic mutation occurs, collagen doesn’t develop properly. The mutated genes mainly affect the collagen that makes cartilage in the body and the jelly-like substance inside the eyes.

If a child receives a mutated copy of any one of these genes, they will show symptoms of Stickler syndrome.

How do children inherit Stickler syndrome?

Inheritance of Stickler syndrome is almost always autosomal dominant (types I-III) but is occasionally autosomal recessive (types IV-VI). If a child inherits the gene in an autosomal dominant pattern, only one parent needs to have the genetic mutation to have a 50% chance of passing it on to their child during fertilization. With recessive inheritance, both parents are healthy carriers who only have one mutation (no symptoms) but would have a 25% chance of having a child who inherits a mutation from each of them.

Some genetic mutations occur randomly, without being present in a person’s family history (de novo). You can’t predict the occurrence of de novo mutations.

How is Stickler syndrome diagnosed?

Healthcare providers classify Stickler syndrome into different types during diagnosis. Each type has varying symptoms. Your healthcare provider will identify the type of Stickler syndrome using your family medical history and diagnostic tests. Diagnosis may involve:

• Genetic testing: Your healthcare provider studies a sample of blood or tissue to identify the gene or genetic mutation that’s responsible for your symptoms.
• Imaging: Tests that provide images of the inside of the body can help your healthcare provider identify abnormalities in the bones and joints.
• Physical exam: During a physical exam, your healthcare provider can assess symptoms in the face, ears, eyes and joints.
• Vision and hearing tests: These tests enable your healthcare provider to identify problems with the eyes and ears.

Can a healthcare provider detect Stickler syndrome before birth?

Healthcare providers will diagnose Stickler syndrome early in babies, typically after they’re born, to confirm the diagnosis. Prenatally, genetic testing can identify any gene abnormalities or genetic mutations associated with the condition. A confirmation of the diagnosis occurs after the baby is born, once your healthcare provider is able to perform a complete physical exam along with any other imaging tests to check for symptoms.

How is Stickler syndrome treated?

Treatment for Stickler syndrome varies depending on a person’s symptoms. There’s no cure for the condition, so treatment aims to alleviate symptoms. Early diagnosis and treatment of symptoms lead to the best outcome, especially if there’s a need to repair a detached retina or joint abnormalities.

Your healthcare provider will offer different types of treatment to manage symptoms associated with the condition. Common treatments include:

• Corrective lenses (contact lenses or eyeglasses) to improve vision.
• Hearing aids to improve hearing.
• Medications to ease joint pain.
• Orthodontic treatment to adjust any misaligned teeth.
• Physical therapy (exercises to improve mobility) to strengthen joints.
• Surgery to repair abnormalities, including attaching a detached retina, repairing a cleft palate, inserting a tube in the neck to assist breathing, or repairing or replacing a damaged join

How can I prevent Stickler syndrome?

You can’t prevent Stickler syndrome since it’s the result of an inherited genetic mutation. People with a family history of the condition who want to have children should seek genetic counseling and genetic testing to learn about the risk of having a child with the condition.

What can I expect if I have Stickler syndrome?

Stickler syndrome has no cure. The condition does not affect life expectancy. With ongoing treatment and support, many people with Stickler syndrome live active and fulfilling lives. Prompt diagnosis is important during infancy or early childhood so your healthcare provider can alleviate symptoms and help prevent complications.

Symptoms can arise after treatment. For example, if someone receives retinal reattachment surgery, their retinas can detach again, even if the first surgery was successful. It’s important to schedule regular checkups with your healthcare provider to address any concerns about the condition and your symptoms as they arise.

Will Stickler syndrome affect my regular activities?

Stickler syndrome affects people’s regular activities differently depending on the symptoms. Your healthcare provider can help you understand healthy activity levels depending on the symptoms the condition causes.

People diagnosed with Stickler syndrome should avoid playing contact sports like football because there’s a high risk of retinal detachment that would require surgery to preserve their vision.

When should I see my healthcare provider?

Contact your healthcare provider if you or your child shows signs or symptoms of Stickler syndrome that are preventing you from going about your normal daily tasks. Symptoms include:

• Severe joint pain.
• Blurred vision, bright flashes of light, eye floaters or shadows in your vision (detached retina).
• Difficulty eating.
• Bleeding, swelling or a clear to yellow fluid leaking from a surgery site that isn’t healing properly (infection).

If you or your child are having trouble breathing, visit the emergency room or call 911 immediately.

What questions should I ask my doctor?

If you or your child has Stickler syndrome, you may want to ask your doctor:

• How serious is Stickler syndrome?
• What caused this condition?
• How will it affect my child’s daily life?
• What signs of complications should I look out for?

A note from Cleveland Clinic

Stickler syndrome can affect each person differently and the symptoms can range in severity, but the diagnosis does not affect overall life expectancy and the majority of cases have a positive prognosis. Since the condition is hereditary, if you plan on becoming pregnant, talk with your healthcare provider about genetic testing to understand your risk of having a child with a genetic condition.