Stickler Syndrome

Stickler syndrome is caused by a change (mutation) in 1 of the collagen genes. These genes hold instructions for the body to make collagen proteins for the body’s connective tissue.

• The different types of Stickler syndrome have different genetic causes.
• For some children, the Stickler syndrome gene mutation is inherited from a parent.
• For others, the condition happened because of a new change in a collagen gene.

A similar condition called Marshall syndrome is caused by a mutation in the same gene. Researchers are trying to decide if the 2 syndromes are different or are forms of the same disorder.

Over the past 5 years, we have cared for about 20 children with Stickler syndrome and more than 80 children with Robin sequence, a related condition.

Our experience with craniofacial conditions helps us find problems early and take steps to prevent or treat them. We watch for problems that may develop with your child’s breathing, feeding, vision, hearing, speech, heart and bones.

Each year, we provide care for more than 300 children with complex conditions that involve clefts. We have more surgeons specializing in cleft repair than any other center in the country. Read about Seattle Children’s expertise in craniofacial surgery.

The Craniofacial Center at Seattle Children’s has experts in every field your child might need. These 50 specialists work together to diagnose and care for our patients.

Our team meets weekly to discuss children with complex needs and decide on the best care plan for each child. We work together, and with you and your family’s doctor, to manage your child’s personalized care.

A craniofacial pediatrician, nurse, family service coordinator and social worker will work closely with your family. They coordinate care and make sure all your questions are answered.

The pediatrician guides your child’s treatment and decides if other specialists are needed. Your child’s team may include a geneticist, genetic counselor, craniofacial plastic surgeon, oral-maxillofacial surgeon, ear, nose and throat specialist (otolaryngologist), eye doctor (ophthalmologist), feeding therapist, dietitian, orthodontist, audiologist and speech and language pathologist (SLP). Children with bone or joint problems will also be treated by an orthopedic doctor or a specialist in inflammatory diseases that affect joints and connective tissues (rheumatology).

We care for care for your child’s physical, emotional and comfort needs. Read more about the supportive care we offer.

A diagnosis of Stickler syndrome can be scary. We take time to explain your child’s condition. We help you fully understand your treatment options and make choices that are right for your family.

As your child gets older, we make sure they are involved in decisions about their medical care.

Our child life specialists and social workers support your child and family through the challenges of this condition. We help you find community resources and support groups.

Seattle Children’s provides craniofacial care for children in an area one-fourth the size of the continental United States. We also care for children from across the globe. This has helped us develop systems to provide outstanding, personalized care at great distance.

Seattle Children’s receives more research funding from the National Institutes of Health (NIH) than any other craniofacial center in the United States.

Our researchers are working to:

• Understand more about what causes clefting and find ways to prevent it
• Help children breathe and sleep better despite airway problems related to Robin sequence, which is common in children with Stickler syndrome
• Ensure the best outcomes for children born with conditions related to clefts

Learn about cleft-related research at Seattle Children’s.

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 help you understand the pros and cons of genetic testing. They explain test results and your chance of having a child with Stickler syndrome in a future pregnancy.

We recommend evaluating other family members to see if they are affected by the 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.

A genetic counselor also 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. A person with Stickler syndrome has a 50% chance in each pregnancy of passing the abnormal gene on to their child.

Children with Stickler syndrome often have a combination 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 windpipe using a flexible tube with a light and camera (endoscope). The doctor inserts the tube through your baby’s nose.
• Monitoring your child’s breathing while they sleep (an overnight sleep study). Learn about sleep studies (PDF) (Arabic) (Simplified Chinese) (Somali) (Spanish) (Vietnamese).
• CT (computed tomography) scan of the facial bones. This helps doctors decide if your child will be helped by jaw surgery.

Options to help your child breathe

Treatment options include:

• Placing a small tube through your baby’s nose into the upper airway. This is called a nasopharyngeal airway.
• Enlarging the lower jaw (mandible) by surgery and using a small metal device (distractor) to lengthen the jawbone over 2 weeks. The distractor is left 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.

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

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

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 your child’s diet.

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 in their proper place across the cleft.

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

For details, see Treating Cleft Lip and Cleft Palate.

We keep a close watch on 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 position. If not treated quickly, this can cause blindness. Your doctor may advise your child not to play contact sports and other activities that increase the risk.
• Nearsightedness (myopia): It is likely that your child will need glasses at an early age.
• Pressure buildup in the eye: This is called glaucoma. It 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: This is called a cataract. It 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 6 to 12 months old. The eye checkup happens earlier if there are any concerns, such as a cataract or a family member with vision problems.

The eye doctor will see your child every year or more often, if any problems are found.

Mild-to-moderate hearing loss is common in children with Stickler syndrome. 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 testing. 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 - more often if there are concerns about hearing loss.

Usually, hearing loss in children with Stickler syndrome is caused by damage to the inner ear (cochlea) or to the nerve pathways from the inner ear to the brain. Some types of hearing loss can be treated with hearing aids.

Children with cleft palate may have hearing problems because of fluid in their middle ear. If this is a problem for your child, we recommend inserting small plastic tubes in the ear drum. This keeps the middle ear clear of fluid. It is often done at the same time as surgery to fix cleft palate.

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 ability and how their language is developing. We start even before your child’s cleft palate is repaired, as early as 9 months.

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

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

• Speech therapy to develop more normal speech patterns.
• A custom-made speech appliance called an obturator.
• Surgery on the roof of the mouth or throat. Your surgeon and speech pathologist 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 stiffness in later childhood. Thirty percent of people with Stickler syndrome develop arthritis between 30 and 40 years of age.
• Short stature (25% of people with Stickler syndrome).
• Curvature of the spine inward (scoliosis) or outward (kyphosis). This may cause back pain. This affects 10% of children with Stickler syndrome.

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 supporting structures around 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).
• Problems with their spine or other bones: An orthopedic doctor will check your child and provide treatment.
• Unusually short height: Your child will be evaluated to see if growth hormone therapy or other treatment could help.

Good mouth care (oral hygiene) is 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 look to see if their teeth are too crowded.
• When your child is 5 or 6 years old, an orthodontist will start checking how their upper and lower jaws fit together (occlusion). We will continue to check your child’s bite as they grow.
• If their teeth and jaws do not fit together properly when their face bones have finished growing, your child may need surgery to align their jaws. This is called orthognathic surgery. Usually, the bones finish 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(s) to heal in the new position. Once your child’s bite is correct, braces can be removed.

Read more about craniofacial orthodontics.

In some children, the valve between the left chambers of the heart does not close correctly. 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.