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There are many ways you can help children and their families get the care they need.
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.
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.
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.
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
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)
palate abnormalities/obstructed airway
split uvula (the tissue that hangs down in the back of the throat is divided)
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:
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:
Your doctor may also have some questions for you, so you should be prepared to answer these questions:
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.
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.
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.
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.
Visit our For Patients and Families site for all you need to know about:
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.”