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Stickler Syndrome

  • Overview

    "Our specialists, such as geneticists, plastic surgeons, otolaryngologists, orthopedic surgeons and ophthalmologists, have extensive experience helping children with Stickler syndrome. And we're very involved in researching the best new treatments for this condition."

    Joan M. Stoler, MD, Children's clinical geneticist

    Some medical conditions are easy to identify. If your child has a broken leg, for example, it’s pretty obvious. Other conditions, like Stickler syndrome, can be much more complicated to identify and treat.

    Stickler syndrome is a relatively common congenital (present at birth) condition that affects the formation of a connective tissue called collagen.

    • It’s caused by a mutation (change) in one of the genes in charge of collagen formation.
    • Stickler syndrome is present at birth but, depending on the severity of your child’s symptoms, may not be diagnosed immediately.
    •  It can affect multiple parts of your child’s body, including his or her eyes, face, ears, heart, bones and joints.
    • It’s often misdiagnosed (or undiagnosed because of the mildness of the symptoms), but about one in 7,500 people in the United States and Europe have Stickler syndrome.
    • Children with Stickler syndrome have abnormal collagen, which can lead to problems with their eyes, hearing, joints and facial features.
    • It’s the most common cause of retinal detachment (which can cause blindness if left untreated) in children.
    • Stickler syndrome is a progressive disorder, so the symptoms are likely to become more severe as your child ages.
    • There’s no cure, but it’s a manageable condition, and most children go on to lead full, healthy lives.

    How Children’s Hospital Boston approaches Stickler syndrome

    While there’s no cure for Stickler syndrome, we have many methods of managing your child’s symptoms — and helping your child live a healthy, productive life. At Children’s, we take a multidisciplinary approach that focuses on the whole child, not just his condition—that’s one reason we’re frequently ranked as a top pediatric hospital in the United States.

    We specialize in innovative, family-centered care. From your first visit, you’ll work with a team of professionals who are committed to supporting all of your family’s physical and psychosocial needs.

    What makes Children's different?

    We’re known for our science-driven approach — we’re home to the most extensive research enterprise located in a pediatric hospital in the world, and we partner with a number of top biotech and health care organizations—but our physicians never forget that your child is a child, and not just a patient.

    Stickler syndrome: Reviewed by Joan M. Stoler, MD
    © Children’s Hospital Boston, 2011

    Boston Children's Hospital 
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    Boston Children's at Lexington
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    Boston Children's Physicians Weymouth 
    851 Main Street, Suite 6
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    fax: 781-335-5628
  • In-Depth

    While the word “syndrome” can be a frightening one, it simply refers to a group of symptoms that occur together.

    When a doctor says that your child has Stickler syndrome, he means that your child has some or all of the symptoms associated with the condition.

    • The symptoms can range from relatively mild to severe.
    • Some children who have Stickler syndrome have all the symptoms, while others only have one or two.
    • For more information about the causes and symptoms of Stickler syndrome, as well as what they mean for your child, read on.

    Why is Stickler syndrome a problem?

    Children with Stickler syndrome have abnormal collagen, which can lead to problems with their eyes, hearing, joints and facial features. For more information on problems related to Stickler syndrome, see “Signs and Symptoms.”

    How common is Stickler syndrome?

    Stickler syndrome is a fairly common genetic condition, occurring in about one in 7,500 people in the United States and Europe. It’s also frequently misdiagnosed—or even left undiagnosed—because many people have very mild cases.

    When does it appear?

    Stickler syndrome is present at birth but, depending on the severity of your child’s symptoms, may not be diagnosed immediately.

    Who gets Stickler syndrome?

    It’s equally common in boys and girls.

    Causes

    What causes Stickler syndrome?

    It’s caused by a mutation in one of the genes in charge of collagen formation. Collagen is a type of fibrous protein that connects and supports other tissues like skin, muscle and bones. It’s sometimes referred to as the “glue” that holds the body together.

    How is Stickler syndrome inherited?

    Most cases of Stickler syndrome are inherited in an autosomal dominant manner, which means that a child needs to have only one abnormal copy of the responsible gene to be affected. Each of us has two copies of each gene (with the exception of those genes on the X chromosome in boys).

    If a child has Stickler syndrome, the risk for a subsequent sibling to have Stickler syndrome depends upon whether one of the parents is affected. If one of the parents is also affected, there’s a 50 percent chance that the next child will also have it. If neither parent has Stickler syndrome, the risk to have another child with Stickler syndrome is thought to be low.

    If you have Stickler syndrome yourself and want to have children, consider discussing your family plans with a genetic counselor who can help you understand the implications of the syndrome for your children.

    Signs and symptoms

    What symptoms might my child have?
    Stickler syndrome affects different children in different ways. One child could have a mild form of the syndrome with just a few symptoms that may be so mild that they go undiagnosed or never need treatment. Another child may have most of the symptoms listed below.

    Here are some of the more common symptoms of Stickler syndrome, organized by the part of your child’s body they affect:

    Vision and eye health

    • myopia (nearsightedness)— can sometimes be extreme
    • retinal detachment (retina separates from the back of the eye) — if left untreated, it can cause blindness
    • cataracts (clouding of the eye lens)
    • astigmatism (cornea or lens not spherical)
    • vitreous degeneration (the gel within the eye liquefies and pulls away from the retina)      
    • crossed eyes (strabismus)
    • glaucoma (elevated eye pressure) — if left untreated, glaucoma can cause blindness

    Hearing and ear health

    inner ear hearing loss — over time, this hearing loss can become more severe and eventually lead to deafness

    frequent ear infections

    Joints and bones

    joint pain/enlarged joints

    osteoarthritis (degenerative joint disease) — in very severe cases, knee or hip replacement surgery may be necessary

    loose joints that are abnormally flexible

    knock knees (Genu valgum)

    scoliosis (curvature of the spine)      

    Legg-Calve-Perthes disease (hip degeneration)

    Facial features and mouth

    flat cheeks and nasal bridge (most noticeable in infants)

    small jaw

    palate abnormalities/obstructed airway     

    split uvula (the tissue that hangs down in the back of the throat is divided)      

    orthodontic issues

    Pierre-Robin sequence (small jaw, cleft palate, tongue placement abnormalities and breathing and feeding problems)

    Keep in mind that Stickler syndrome is a progressive disorder, so your child’s symptoms are likely to become more severe with age. However, a cleft palate is apparent at birth and is not a progressive condition.

    When should we see a doctor?

    While the symptoms of Stickler syndrome are generally not life threatening, your child may be at a higher risk for retinal detachment, a condition that can cause blindness if left untreated.

    You should contact an eye specialist if your child has any of the following symptoms:

    • blurry vision
    • flashes of light in the eyes
    • a shadow over a portion of the field of vision
    • increase in the tiny bits of debris that float in the eye

    Questions to ask your doctor


    You and your family are key players in your child’s medical care. It’s important that you share your observations and ideas with your child’s health care provider and that you understand your provider’s recommendations.

    If your child was born with Stickler syndrome (or if she wasn’t diagnosed until she was older) and you’ve set up an appointment, you probably already have some ideas and questions on your mind. But at the appointment, it can be easy to forget the questions you wanted to ask. It’s often helpful to jot them down ahead of time so that you can leave the appointment feeling like you have the information you need.

     Some of the questions you may want to ask include:

    • What kinds of tests will our child need?
    • What can we do at home to help manage our child's symptoms?
    • How can we help our child at school?
    • Where can we go for further information? Printed materials? Online resources?

    Your doctor may also have some questions for you, so you should be prepared to answer these questions:

    • Have you noticed any problems with your child’s eyes?
    • Does he or she complain about blurry vision or flashing lights?
    • Did he or she have trouble breathing or feeding as a baby?
    • Does it seem like he or she has trouble hearing?

    FAQ

    Q: What’s a syndrome?

    A: While the word “syndrome” can be a frightening one, it simply refers to a group of symptoms that occur together.

    When a doctor says that your child has Stickler syndrome, he means that your child has some or all of the symptoms associated with the condition.

    The symptoms can range from relatively mild to severe.

    Some children who have Stickler syndrome have all the symptoms, while others only have one or two.

    Q: Will my child get better?

    A: There’s no cure for Stickler syndrome, but it’s a manageable condition, and most children go on to lead full, healthy lives.

    Q: How common is Stickler syndrome?

    A: Stickler syndrome is a fairly common genetic condition, occurring in about one in 7,500 people in the United States and Europe. It’s also frequently misdiagnosed—or even left undiagnosed—because many people have very mild cases.

    Q: What problems might my child have?

    A: Stickler syndrome affects different children in different ways. One child could have a mild form of the syndrome with just a few symptoms that may be so mild that they go undiagnosed or never need treatment. Another child may have most of the symptoms listed in the Signs & Symptoms section.

    Q: When should we see a doctor?

    A: While the symptoms of Stickler syndrome are generally not life threatening, your child may be at a higher risk for retinal detachment, a condition that can cause blindness if left untreated.

    You should contact an eye specialist if your child has any of the following symptoms:

    • blurry vision
    • flashes of light in the eyes
    • a shadow over a portion of the field of vision
    • increase in the tiny bits of debris that float in the eye

    Q: What is the long-term outlook for my child?

    A: 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.

    Coping and support

    We understand that you may have a lot of questions when your child is diagnosed with Stickler syndrome. How will it affect my child long term? What can we do to treat the symptoms? How can we help her in school? We’ve provided some answers to those questions in the following pages, but there are also a number of other resources to help you and your family through this difficult time.

    • Children’s Center for Families is dedicated to helping families locate the information and resources they need to better understand their child’s particular condition and take part in their care. All patients, families and health professionals are welcome to use the Center’s services at no extra cost. The center is open Monday through Friday from 8 a.m. to 7 p.m., and on Saturdays from 9 a.m. to 1 p.m. Please call 617-355-6279 for more information.
    • The Children’s chaplaincy  is a source of spiritual support for parents and family members. Our program includes nearly a dozen clergy members—representing Episcopal, Jewish, Lutheran, Muslim, Roman Catholic, Unitarian and United Church of Christ traditions—who will listen to you, pray with you and help you observe your own faith practices during your child’s treatment.
    • Children’s Behavioral Medicine Clinic helps children who are being treated on an outpatient basis at the hospital—as well as their families—understand and cope with their feelings about:
      • being sick
      • facing uncomfortable procedures
      • handling pain
      • taking medication
      • preparing for surgery
      • changes in friendships and family relationships
      • managing school while dealing with an illness
      • grief and loss
    • Children’s Pediatric Psychiatry Consultation Service is made up of expert and compassionate pediatric psychologists, psychiatrists, social workers and other mental health professionals who understand the unique circumstances of hospitalized children and their families. The service works with children who have been admitted to the hospital—and their family members—and operates on a referral basis. For more information about the service, visit here [LINK: Pediatric Psychiatry Consultation Service homepage]. If you are interested in setting up an appointment, please speak to your child’s treating clinician.
    • The Experience Journal was designed by Children’s psychiatrist-in-chief David DeMaso, MD, and members of his team. This online collection features thoughts, reflections and advice from kids and caregivers about their medical experiences.

    Visit our For Patients and Families site for all you need to know about:

    Kid-centered care

    Treatment for Stickler syndrome — which sometimes includes surgery —can be intimidating for young children, so we’ve built our treatments around concepts that work for kids.

    Our entire staff is highly trained and experienced. And more importantly, we’re all dedicated to working with families — to make sure that your child is as comfortable as possible during treatment.

  • Tests

    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 featuresMany 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 problemsKids 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 conditionsAbout 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.

    Long-term outlook

    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

    laboratory testing

    imaging scans

    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.

  • Research & Innovation

    Multidisciplinary team, innovative care

    Stickler syndrome is a complex condition, and no one specialist is equipped to treat your child for all his symptoms.

    That’s why at Children’s Hospital Boston, we have an innovative multidisciplinary approach to treating children with Stickler syndrome.

    Your child’s care team may include physicians from several disciplines, such as ophthalmology, audiology, plastic surgery, genetics, orthopedics and cardiology who have experience treating kids with the varied symptoms of Stickler syndrome.

    We’re also continually involved in research with physicians and researchers in other institutions in an attempt to provide the most up-to-date and effective care for children with Stickler syndrome.

    New treatment for mitral valve prolapse
    Pedro del Nido, MD, chief of Cardiac Surgery, and his colleagues at Children’s are developing surgical instruments to enable beating heart surgical repair of mitral valve prolapse. These specialized devices will allow minimally invasive repairs inside the beating heart that are not currently possible. Read about these exciting developments.

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