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There are many ways you can help children and their families get the care they need.
Diagnosing Stickler syndrome can be difficult sometimes because many of the symptoms may be mild or even non-existent in some children.
The specialists at Children’s Hospital Boston can help you identify whether your child has Stickler syndrome — and begin treatment to manage your child’s specific symptoms.
How is Stickler syndrome diagnosed?
Doctors can sometimes see evidence that your child has Stickler syndrome right after she’s born. We’ve outlined below a number of criteria for Stickler syndrome according to the National Institutes of Health:
Abnormal facial features— Many children with Stickler syndrome have a typical flattened facial structure and nasal bridge.
Some also have a small jaw and other related problems, such as a cleft palate.
Eye abnormalities — Eye exams can detect eye problems such as cataracts that are often present at birth in children with Stickler syndrome.
If your child is older, doctors may test for the severe nearsightedness that’s common in kids with Stickler syndrome.
Hearing problems — Your child’s doctor may test early on for any hearing loss.
Joint problems— Kids with Stickler syndrome often have very flexible joints, so your doctor may perform some tests to see the extent of your child’s flexibility.
If your child can extend his arms or legs further than is comfortable for most people, your doctor may suspect Stickler syndrome (if other features of the syndrome are also present).
Heart conditions— About 50 percent of kids with Stickler syndrome have a defect in which a valve in the heart doesn’t function properly (mitral valve prolapse).
Symptoms vary, but can include feelings of fatigue or an elevated heartbeat; some children with mitral valve prolapse have no symptoms at all.
Your doctor can diagnose this problem simply by listening to your child’s heart.
What about genetic testing?
Molecular genetic testing can be used to diagnose Stickler syndrome. A clinical geneticist can discuss this in detail with you and arrange for it, if appropriate.
Your doctor may suggest it to confirm a suspected diagnosis or for prenatal diagnosis.
Testing may be done to assess if other family members are also affected.
Treatment and care
Undoubtedly, you were distressed when you learned that your child has Stickler syndrome. That’s understandable — there is no known cure for Stickler syndrome and it’s a progressive condition.
However, keep in mind that the symptoms — and their severity — of Stickler syndrome vary widely. Your child may have a very mild form of Stickler syndrome that doesn’t even require treatment.
And if your child does need treatment, you’re in the right place.
At Children’s Hospital Boston, we view the diagnosis as a starting point: Now we’re able to begin the process of treating your child — with all the means at our disposal — so that we may effectively manage the condition and allow your child to have a healthy life.
How is Stickler syndrome treated?
Stickler syndrome can be a complicated condition, and it affects different kids in different ways.
Some children with Stickler syndrome may not need to be treated at all.
For those children who do need treatment, we focus on managing your child’s symptoms.
So what kinds of treatments are there?
They fall into several categories, depending on what part of your child’s body is affected.
Eyes and vision
Corrective lenses are often an essential part of treating the severe nearsightedness of many children with Stickler syndrome.
If your child’s retina detaches, laser surgery can correct the problem. Remember, however, that a detached retina is an emergency situation. If your child has any of the warning signs [LINK to retinal detachment warning signs in When should we see a doctor? section], contact an eye specialist as soon as possible.
Ears and hearing — Many different types of hearing aids are available to help your child if he’s suffering from hearing loss.
Joints and bones — If your child has the flexible joints characteristic of Stickler syndrome, he may experience some pain after physical activity. Anti-inflammatory medications, such as ibuprofen, can help reduce any swelling or pain.
If your child has severe arthritis, joint surgery may be indicated.
Facial features and mouth — If your child was born with a cleft palate (a hole in the roof of his mouth), surgeons can repair it, typically when he is around nine months of age. For more information on cleft palate, click here.
Heart conditions — Most children who have mitral valve prolapse don’t need any treatment
If treatment is necessary, doctors can use medications to treat symptoms such as chest pain and palpitations.
Medications can also be used to strengthen your child’s heartbeat, widen his blood vessels, regulate heart rhythms and reduce the chance of blood clots forming.
If your child has a significant amount of blood flowing backward through the valve, doctors can perform surgery to correct the problem.
What kind of support will we get?
At Children’s, we consider you and your child integral parts of the care team and not simply recipients of care. Your care team will be with you every step of the way to ensure that you and your child are getting the support you need.
We want to maximize the safety and effectiveness of whatever therapy you and your child’s doctor decide upon.
Supportive care involves preventing and treating infections and side effects of treatment to keep your child as comfortable as possible while we’re working to manage the symptoms of Stickler syndrome.
What do we do after treatment is over?
Depending on the severity of your child’s condition, your doctor may recommend a series of follow-up visits to check for complications and make sure that we’re managing the Stickler syndrome effectively.
A typical follow-up visit may include some or all of the following:
a physical exam
Your child's physician and other members of your care team will work with you to set up a schedule of follow-up visits.
What is the long-term outlook for my child?
Stickler syndrome doesn’t affect your child’s life expectancy, but it is a progressive condition, which means that your child’s symptoms may get worse with time.
That said, we have many methods of treating those symptoms and, with help, your child can live a healthy, happy life.
One important thing to remember: Stickler syndrome is the most common cause of retinal detachment (which can cause blindness if left untreated) in children — so make sure your child has frequent eye exams.
Every child is unique and your care team will work with you to develop a treatment plan that works for your family.
Watch videos of one of our surgeons describing Children’s approach to treating cleft lip and palate.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”