Stickler Syndrome

Genetic tests may help tell if your child has Stickler syndrome or another disorder that causes similar problems. There are several types of Stickler syndrome, with different genetic causes. Tests are available for most types.

Our Craniofacial Genetics Clinic helps identify conditions caused by changes in genes. Our geneticists and genetic counselors can help you understand the pros and cons of genetic testing. They can explain test results and your chance of having a child with Stickler syndrome in a future pregnancy.

Our genetic counselor will give you information about your child’s condition. Counseling can help you make informed decisions about family planning and your child’s treatment.

Our genetic counselors also advise people with genetic syndromes about their chance of having a child with the condition. For some genetic causes, a person with Stickler syndrome has a 50% chance in each pregnancy of passing the abnormal gene on to their child. For other genetic causes, the chance is much lower.

We recommend evaluating other family members to see if they are affected by Stickler syndrome or carry the abnormal gene. The same gene mutation can cause very different features of Stickler syndrome, even in members of the same family.

Children with Stickler syndrome often have a mix of features that can cause problems with breathing and feeding. This pattern of features is called Robin sequence. It includes:

• A small lower jaw (micrognathia)
• A tongue that is far back in the mouth and blocks the airway (glossoptosis)
• An opening in the roof of the mouth (cleft palate)
• Breathing problems, noisy breathing or snoring
• Feeding problems and slow weight gain

See how we care for children with Robin sequence.

We will keep careful watch on your child’s breathing as they grow. Some children have breathing problems in their first months of life. Others develop problems later.

Stickler syndrome often causes the jaws to be too small — both the upper (maxilla) and lower (mandible). Small jaws raise the risk of breathing problems, especially during sleep. This is called obstructive sleep apnea.

Your child may have tests to help the team understand the exact cause of breathing problems and decide on the best treatment. Tests may include:

• Blood tests to check for the right balance between oxygen and carbon dioxide (CO₂).
• Looking inside your child’s upper airway (nose, throat and voice box) using a flexible tube with a light and video camera (endoscope). The doctor inserts the tube through your child’s nose.
• Checking your child’s breathing while they sleep (an overnight sleep study), either in the hospital or in our sleep lab. Learn about sleep studies.
• CT (computed tomography) scan of the facial bones and airway. This helps doctors understand the jaw, tongue and breathing and decide if treatments like an orthodontic airway plate (OAP) or jaw surgery will help your child.

The best treatment depends on your child’s age and if they have breathing problems during sleep, during feeding or most of the time.

The options include:

• An OAP to hold your baby’s tongue in a safe position to keep their airway open. It stimulates their lower jaw to grow, which enlarges their airway over time. For many children, the improved jaw position avoids the need for jaw surgery. The OAP is like a retainer with an extension. It’s custom-made using a scan of your baby’s mouth. To be sure it fits exactly right, we use a CT scan of your baby’s jaw and airway. This lets us try on the OAP virtually before fitting it in your baby’s mouth. Most babies stay in the hospital 2 to 4 weeks for OAP treatment. Your baby will wear their custom OAP at all times during treatment, usually 3 to 6 months. We will teach you to remove the plate for cleaning each day and put it back in place.
• Keeping your baby temporarily on their stomach (called prone positioning) when they sleep to prevent their tongue from falling back and blocking their upper airway.
• Providing oxygen via a nasal cannula to prevent oxygen levels from dropping.
• Placing a small tube through your baby’s nose into the upper airway to prevent the airway space from being blocked. This is called a nasopharyngeal airway.
• Surgery to make your child’s lower jaw (mandible) larger. This involves using a small metal device (distractor) to lengthen the jawbone over about 2 weeks. As the lower jaw moves forward, the tongue moves forward, and the airway at the back of the throat opens up. The distractor stays in place for 2 more months while the bones heal in their new position. Read more about mandible distraction.
• Surgery on both the upper and lower jaws. Double jaw surgery combines Le Fort I maxillary advancement and mandibular osteotomy. Our surgeon and craniofacial orthodontist work together to plan and carry out your child’s treatment.
• Placing a breathing tube in the windpipe (tracheostomy) if breathing problems are severe and we cannot treat the problems without surgery.

As your baby grows, their breathing may improve because their tongue and jaw position change.

Older children with obstructive sleep apnea may benefit from wearing a mask while they sleep that keeps air flowing into their airway. The mask is connected to a continuous positive airway pressure (CPAP) device. Children younger than 4 years usually are too small or unwilling to use the mask while sleeping. If your child has large adenoids or tonsils and ongoing obstructive sleep apnea, their team may recommend surgery to remove the adenoids and tonsils (PDF).

Many babies with Stickler syndrome have a small jaw. Some have an opening in the roof of their mouth (cleft palate).

These differences can cause problems with breast- and bottle-feeding. We help you with feeding techniques to help your baby thrive.

A feeding and swallowing specialist can provide support. Using a special bottle or nipple may also help. Other treatments include:

• Giving your baby medicine to prevent backup of stomach acid into the throat if gastroesophageal reflux is a problem for your baby.
• Using feeding tubes to avoid the stress of eating if breathing problems happen while your child eats.

We will check regularly to make sure that your baby is gaining weight. A dietitian may see you in the clinic to advise you about supporting your child’s growth.

If your child has a gap in the roof of their mouth (cleft palate), our surgeon will talk with you about surgery to repair it. Usually, this surgery happens when your child is about 1 year old.

During cleft palate surgery, the cleft is closed. Muscles at the back of the roof of the mouth are put across the cleft to support your child’s ability to speak.

Most often, surgery takes 3 hours. Children usually will stay in the hospital for 1 to 2 nights.

We have more surgeons specializing in cleft repair than any other center in the country. Learn more about treating cleft lip and palate.

We closely check your child’s vision. Children with the most common forms of Stickler syndrome often have eye problems. These may include:

• Detached retina: There is an increased risk that the light-sensitive lining of the eye (retina) will be pulled off its normal place. If not treated quickly, this can cause blindness. Your doctor may recommend ways to lower the risk, such as avoiding contact sports and other high-risk activities.
• Nearsightedness (myopia): Your child will probably need glasses at an early age.
• Pressure buildup in the eye (glaucoma): This can damage the nerve that connects the eye to the brain. Early treatment can protect against serious loss of vision.
• Clouding of the lens of the eye (cataract): This causes blurred vision. If the cataract affects vision too much, an eye surgeon can remove the lens and replace it with an artificial lens.

An eye doctor (ophthalmologist) will check your baby’s vision when they are about 6 months old. We’ll do the eye checkup earlier if there are any concerns, such as a cataract or a family member with vision problems.

Your child will see 1 or more eye care providers (an ophthalmologist, optometrist or retina specialist) every year — or more often if any problems are found.

Hearing loss is common in children with Stickler syndrome. It’s usually mild to moderate. It may get worse as a child gets older.

• Your baby’s hearing should be screened soon after birth or within a few days.
• If there are concerns, we do further tests. A specialist trained to test hearing in babies and children (audiologist) will perform the tests.
• We check your child’s hearing every 6 months until they are 6 years old. Then we check each year — or more often if there are concerns about hearing loss.

Usually, hearing loss in children with Stickler syndrome happens because of a problem with the inner ear (cochlea) or the nerve pathways from the inner ear to the brain (sensorineural hearing loss). Hearing aids can treat some types of hearing loss.

Children with cleft palate may have hearing problems because of fluid in their middle ear (conductive hearing loss). If this is a problem for your child, we recommend putting small plastic tubes in the ear drum (tympanostomy tubes). This keeps the middle ear clear of fluid. Surgeons often do this at the same time as surgery for the cleft palate.

Learn more about ear tubes (PDF), Audiology services and related resources.

If your child has cleft palate or serious hearing loss, they may have problems with speech and language.

A speech and language pathologist (SLP) will regularly check your child’s speech and how their language is developing. We start even before repairing your child’s cleft palate, as early as 9 months. We do this to help guide you about what to listen for and how to support communication for your child with a cleft before palate surgery. Learn about early language development in children with a cleft palate (PDF).

Some children with cleft palate have a condition called velopharyngeal dysfunction. They may have trouble with speech sounds, even after the cleft is repaired.

Depending on your child’s needs, we may recommend:

• Speech therapy to develop more typical speech patterns.
• A custom-made speech appliance called an obturator.
• Surgery on the roof of the mouth or throat. Your child’s surgeon and SLP will work together to recommend what is best for your child.

Most children with Stickler syndrome have some differences with their bones and joints. These may include:

• Very loose, flexible joints (hypermobility).
• Joint pain and stiffness in later childhood. This can affect any joints in the body, including the hips, knees, fingers and neck. Some people with Stickler syndrome develop arthritis, most often in their 30s but sometimes earlier.
• Short stature.
• A sideway curve of the spine (scoliosis) or a forward curve in the middle of the spine (kyphosis). This may cause back pain.

Your child’s team will check their joints and bones at yearly visits. If your child has pain or other symptoms, their team checks more often.

If your child has:

• Very loose or painful joints: A physical therapist (PT) can help your child strengthen and stabilize the structures that support their joints.
• Swelling, stiffness or other signs of arthritis: Your child will see a doctor who specializes in inflammatory diseases that affect joints and connective tissues (rheumatologist) or a doctor who specializes in bone and joint problems (orthopedic surgeon or sports medicine specialist).
• Problems with their spine or other bones: An orthopedic doctor will check your child and provide treatment.
• Unusually short height: We will check your child to see if growth hormone therapy or other treatment could help.

Good mouth care (oral hygiene) and cavity prevention are important for all children, but especially those with craniofacial conditions. Many children with Stickler syndrome will need orthodontic and dental treatment.

• A pediatric dentist or orthodontist will check your child’s general dental health and see if their teeth are too crowded.
• When your child is 6 years old, an orthodontist will start checking how their upper and lower jaws fit together (occlusion). We will keep checking your child’s bite as they grow.
• If their teeth and jaws do not fit together well when their face bones have finished growing, your child may need surgery to align their jaws. This is called orthognathic surgery. Usually, the bones are almost done growing at 16 years for a female and 18 years for a male.
• At least 6 months before surgery on the jaw, your child will get braces to make sure the teeth fit together well after surgery.
• The braces stay on for at least 6 months after surgery to allow the bone to heal in the new position. When your child’s bite is aligned, we’ll remove the braces.

Read more about craniofacial orthodontics.

In some children, the valve between the left chambers of the heart does not close well. This is called mitral valve prolapse (MVP). Most of the time, MVP does not cause any problems.

Rarely, blood can leak the wrong way through the valve. This can lead to a fast or irregular heartbeat, shortness of breath and chest pain.

During your child’s regular visits, the doctor will ask about symptoms. If there might be a problem, a heart specialist will see your child. Your child might have an echocardiogram.