What is Stickler syndrome?
Stickler syndrome is a genetic disorder that affects connective tissues primarily in the face, ears, eyes and joints. This hereditary condition causes distinctive facial abnormalities. It can lead to problems with vision, hearing and movement.
Doctors usually diagnose Stickler syndrome in babies and children. It is also known as Stickler dysplasia. It is related to Marfan syndrome, another connective tissue disease.
What are the risk factors for Stickler syndrome?
People who have a family member with Stickler syndrome are at a higher risk of having the disorder. In most cases, it is inherited. But in some people, a spontaneous genetic change causes it.
How common is Stickler syndrome?
Doctors diagnose Stickler syndrome in roughly 1 out of 7,500-9,000 newborns. It affects males and females equally.
Symptoms and Causes
What causes Stickler syndrome?
Stickler syndrome results from defects in the genes that form collagen (proteins that add flexibility and strength to connective tissue).
With these defects, collagen does not develop properly. In people with this disorder, the faulty genes mainly affect the collagen used to make cartilage in the body and the jelly-like substance inside the eyes.
What are the signs and symptoms of Stickler syndrome?
Symptoms of Stickler syndrome vary widely from person to person. It is rare for people to experience all of the features associated with the disorder.
Many children with the disorder share similar facial deformities. These include:
- Cleft palate (split in the roof of a person’s mouth)
- Flattened face with a small nose
- Micrognathia (abnormally small and recessed lower jaw)
Other signs and symptoms of Stickler syndrome include:
- Bone and joint problems including stiff or overly flexible joints and scoliosis (spine curvature)
- Ear and hearing problems including hearing loss
- Eye problems including severe nearsightedness and detached retina
Diagnosis and Tests
How is Stickler syndrome diagnosed?
Doctors classify Stickler syndrome into different types. Each type has different genetic causes and varying groups of symptoms.
Your doctor will identify the type of Stickler syndrome using your family medical history and tests. Diagnosis may involve:
- Physical exam: During a physical exam, doctors can assess abnormalities in the face, ears, eyes and joints.
- Vision and hearing tests: These tests enable a doctor to identify problems with the eyes and ears.
- Imaging: Tests that provide images of the inside of the body can help doctors identify abnormalities in the bones and joints.
- Genetic testing: A doctor studies a sample of blood or tissue to identify a faulty gene.
Management and Treatment
How is Stickler syndrome managed or treated?
Treatment for Stickler syndrome varies depending on a person’s symptoms. The syndrome itself cannot be eliminated, but you can manage its effects.
Doctors use many types of therapies to manage symptoms and correct features associated with the disorder. Common treatments include:
- Corrective lenses (contact lenses or eyeglasses) to improve vision problems
- Hearing aids to improve hearing
- Medications to ease joint pain
- Physical therapy (exercises to improve mobility) to strengthen joints
- Surgery to repair abnormalities including:
- Attaching a detached retina
- Repairing a cleft palat
- Repairing or replacing a damaged joint
What complications are associated with Stickler syndrome?
The complications of Stickler syndrome vary depending on the symptoms a person experiences. They include:
Can Stickler syndrome be prevented?
You cannot prevent Stickler syndrome. People with a family history of the condition who want to have children should seek genetic counseling to learn about the risk of having a child with the disorder.
Outlook / Prognosis
What is the prognosis (outlook) for people with Stickler syndrome?
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.
When should I call the doctor?
Contact your doctor if you or your child shows signs or symptoms of Stickler syndrome.
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?
When can I go back to my regular activities?
Stickler syndrome affects people’s regular activities differently depending on the symptoms. Your doctor can help you understand healthy activity levels depending on the issues caused by the condition. Your doctor can also advise you if you should avoid or adapt any activities because of Stickler syndrome.