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.
- Depending on the severity of your child’s symptoms, it 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.
- 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.
Stickler Syndrome | Symptoms & Causes
What are the symptoms of Stickler syndrome?
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)
What causes Stickler syndrome?
Stickler syndrome is 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.
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.
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
Stickler Syndrome | Diagnosis & Treatments
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: Children 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 children 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.
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.
How we treat Stickler syndrome
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.
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.
Treatments 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.
- 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.
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?
There’s no cure for Stickler syndrome. It 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.
How we care for 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.
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 | Coping & Support
We understand that you may have a lot of questions when your child is diagnosed with Stickler syndrome. There are a number of other resources to help you and your family through this difficult time.
- Our Hale Family 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 Department of Spiritual Care (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.
- Our 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
- Our 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. If you are interested in setting up an appointment, please speak to your child’s treating clinician.
- The Experience Journal was designed by 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.
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