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The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — vary widely from person to person. A combination of these signs and symptoms is common in people who have Stickler syndrome.

Pierre Robin sequence
Many people who have Stickler syndrome were born with a cluster of birth defects that may make breathing and feeding difficult. Called the Pierre Robin sequence, this combination of birth defects may include a cleft palate, a small jaw and a tongue that falls back toward the throat.

Altered facial features
Children with Stickler syndrome often have a somewhat flattened facial structure with a small nose and a flat or recessed nasal bridge. The chin is typically foreshortened. These features often become less distinctive with age.

Eye problems
Children who have Stickler syndrome often experience eye disorders more commonly associated with older adults.

• Severe nearsightedness. Children with Stickler syndrome are often born with severe nearsightedness, a vision disorder in which you can see near objects clearly, but objects farther away appear blurry.
• Cataracts. Some children with Stickler syndrome are born with cataracts, a clouding of the focusing lens within the eye. Cataracts also may develop later in childhood.
• Glaucoma. Glaucoma causes the pressure within the eye to increase, sometimes to the point that the optic nerve is damaged.
• Retinal detachments. Problems with the lining of the eyeball, called the retina, are common with Stickler's syndrome. The retina is crucial to vision, so blindness can result if it pulls away or tears free from the back of the eyeball.

Hearing difficulties
The extent of hearing loss varies among people who have Stickler syndrome. It usually affects the ability to hear high frequencies and tends to worsen over time.

Bone and joint abnormalities

• Excessive joint flexibility. Children who have Stickler syndrome often can painlessly extend their joints beyond the normal range of motion. This ability tends to lessen with age.
• Osteoarthritis. Premature arthritis, sometimes beginning in childhood, is common in Stickler syndrome.
• Long fingers. Many people who have Stickler syndrome have long fingers, often with enlarged knuckles.
• Scoliosis. Abnormal curvatures of the spine, such as scoliosis, sometimes occur in children with Stickler syndrome. Growing children should be carefully monitored for development of scoliosis so that early treatment can be provided when indicated.

When to see a doctor
Regular follow-up visits, particularly with doctors specializing in eye disorders, are crucial to monitor any progression of symptoms. Early treatment can help prevent life-altering complications. Hearing should be checked regularly, especially in children.

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Stickler syndrome is caused by mutations in certain genes involved in the formation of a class of proteins called collagen. Collagen is one of the building blocks of many types of connective tissues, which support your body's internal structures. The types of collagen affected most by Stickler syndrome are the varieties that make up:

• Cartilage, the tissue that cushions bones within joints
• Vitreous, the jelly-like fluid that fills the center of the eye

If you have Stickler syndrome and your partner does not, the chances that you'll pass the condition on to each of your children is 50 percent. Rarely, people may develop Stickler syndrome without having an affected parent. In these cases, Stickler syndrome results from a random mutation in one of your genes.

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Your child is more likely to be born with Stickler syndrome if either you or your partner has the disorder.

©1998-2013 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
Read this article on Mayoclinic.com.

Potential complications include:

• Difficulty breathing or feeding. Babies born with Pierre Robin sequence — which includes an opening in the roof of the mouth (cleft palate), a disproportionately large tongue and a small lower jaw — may experience difficulty feeding or breathing.
• Blindness. Blindness can occur if glaucoma goes untreated or if retinal detachments aren't repaired promptly.
• Ear infections. Children with facial structure abnormalities associated with Stickler syndrome are more likely to develop ear infections than are children with normal facial features.
• Deafness. Hearing loss typically worsens with time, and a small percentage of people with Stickler syndrome eventually become completely deaf.
• Heart problems. While some studies show that people with Stickler syndrome are at higher risk of heart valve problems, other studies have found no connection between the two conditions.
• Dental problems. Most children who have Stickler syndrome have abnormally small jaws, so there often isn't enough room for the full complement of adult teeth. Braces or, in some cases, dental surgeries may be necessary.

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In some cases, the signs and symptoms of Stickler syndrome — such as facial abnormalities and eye problems — will be apparent while your child is still in the hospital after birth. Other times, your child won't be diagnosed until he or she is older.

After diagnosis, your child should be monitored regularly by doctors who specialize in areas specific to your child's problems. Depending on your child's needs, he or she may see a specialist in eye care (ophthalmologist); in ear, nose and throat care (otolaryngologist); or in joint care (rheumatologist). Since Stickler syndrome is a genetic condition, often care is coordinated by a medical geneticist.

What you can do
Before your appointment, you might want to write a list of answers to the following questions:

• Does your child seem to have any vision problems, such as blurry vision or seeing floaters or flashing lights?
• Does your child seem to have any trouble hearing?
• Have any of your child's symptoms worsened recently?
• Are your child's vision or hearing symptoms interfering with his or her schoolwork?
• What medications and supplements does your child take?
• Has anyone in your immediate or extended family had problems similar to this?

What to expect from your doctor
During the physical exam, your doctor may examine your child's face and mouth for features specific to Stickler syndrome. Your doctor may also extend your child's arms, legs and fingers to determine the extent of his or her flexibility.

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While Stickler syndrome can sometimes be diagnosed based on your child's medical history and a physical exam, additional tests may be needed to determine the severity of the symptoms and help direct treatment decisions.

Imaging tests
X-rays can check for abnormalities or damage in the joints and spine.

Eye exams
Eye exams can help detect:

• Extreme nearsightedness
• Glaucoma, an increase in pressure within the eye
• Cataracts, a clouding of the eye's lens
• Defects in the vitreous, the jelly-like material that fills your eye
• Problems with the eye's lining (retina), which is crucial for sight

Hearing tests
Your doctor may use a test called an audiogram — which measures your ability to detect different pitches and volumes of sound — to determine whether your child has experienced hearing loss.

Genetic tests
Molecular genetic testing may be used to identify the mutant genes associated with Stickler syndrome, but it's not commonly used to diagnose this disorder. However, it's occasionally used to confirm a suspected diagnosis or for prenatal diagnosis.

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There's no cure for Stickler syndrome. Treatment addresses the signs and symptoms of the disorder.

Medications

• NSAIDs. Nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (Advil, Motrin, others) and naproxen (Aleve, Naprosyn, others) may help relieve joint swelling, stiffness and pain. Taking these medications before or after physical activity may help your child move more comfortably. Don't give aspirin to children younger than age 14 because of the risk of Reye's syndrome.
• Glaucoma drugs. Children who have glaucoma will need to take daily medications to control the pressure within their eyes. Most of these types of medications come in the form of eyedrops.

Sensory aids

• Corrective lenses. Corrective lenses are important for treating the severe nearsightedness associated with Stickler syndrome.
• Hearing aids. If your child has problems hearing, you may find that his or her quality of life is improved by wearing a hearing aid.

Therapy

• Speech therapy. Your child may need speech therapy if hearing loss interferes with his or her ability to learn how to pronounce certain sounds.
• Special education. Hearing or vision problems may cause learning difficulty in school, so special education services may be helpful.
• Physical therapy. In some cases, physical therapy may help with mobility problems associated with joint pain and stiffness. Equipment such as braces, canes and arch supports may also help.

Surgery

• Tracheostomy. Newborns with very small jaws and large tongues may need a tracheostomy to create a hole in the throat so they can breathe. The operation is reversed once the baby has grown large enough that his or her airway is no longer blocked.
• Jaw surgery. Surgeons can lengthen the lower jaw by breaking the jawbone and implanting a device that will gradually stretch the bone as it heals.
• Cleft palate repair. Babies born with a hole in the roof in the mouth (cleft palate) typically undergo surgery in which tissue from the roof of the mouth may be stretched to cover the cleft palate.
• Ear tubes. The surgical placement of a short plastic tube in the eardrum can help reduce the frequency and severity of ear infections, which are especially common in children who have Stickler syndrome.
• Eye surgeries. Surgeries to remove cataracts or procedures to reattach the retina, the lining of the back of the eye, may be necessary to preserve vision.
• Joint replacement. Early onset arthritis, particularly in the hips and knees, may necessitate joint replacement surgeries at a much younger age than is typical for the general population.

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• Avoid contact sports. Strenuous physical activity may stress the joints, and contact sports, such as football, may increase the risk of retinal detachment.
• Seek educational help. Your child may have difficulty in school due to problems hearing or seeing. Your child's teachers need to be aware of his or her special needs.

©1998-2013 Mayo Foundation for Medical Education and Research (MFMER). Terms of use.
Read this article on Mayoclinic.com.