Stickler Syndrome Symptoms & Causes

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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:

  • getting to Children’s
  • accommodations
  • navigating the hospital experience
  • resources that are available for your family

     

    Children’s Department of Psychiatry offers a free booklet, “Helping Your Child with Medical Experiences: A Practical Parent Guide”
    The Stickler Involved People Web site offers support and education for people with Stickler syndrome.
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.

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.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital 300 Longwood Avenue, Boston, MA 02115 617-355-6000 | 800-355-7944

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