Stickler syndrome is a rare genetic disorder that affects the connective tissue in the body, resulting in a range of symptoms that can vary in severity. Stickler syndrome can affect the eyes, ears, joints, and facial structure, and can cause a range of health problems, including vision and hearing loss, joint pain and stiffness, and cleft palate.

Symptoms of Stickler syndrome may include a flat or depressed facial profile, a small chin, and an opening in the roof of the mouth (cleft palate). Eye problems are common, such as myopia (nearsightedness), retinal detachment, and glaucoma. Hearing loss is also common and can be caused by a number of different factors, including damage to the inner ear or problems with the bones in the middle ear.

Treatment of Stickler syndrome is based on the specific symptoms and severity of the condition and may involve a team of healthcare providers, including an ophthalmologist, otolaryngologist, and rheumatologist. Treatment options may include medications, surgery, hearing aids or cochlear implants, and other supportive therapies.

There is no cure for Stickler syndrome, as it is a genetic disorder. However, early diagnosis and treatment can help manage symptoms and prevent or reduce the severity of complications. Genetic counseling is also recommended for individuals and families with a history of Stickler syndrome, to help identify potential risks and plan for future care.

Stickler syndrome is caused by mutations in certain genes involved in the formation of collagen — one of the building blocks of many types of connective tissues. The type of collagen most commonly affected is that used to produce joint cartilage and the jellylike material (vitreous) found within the eyes.

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

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.
• 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 also may help.
• 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.
• Special education. Hearing or vision problems may cause learning difficulty in school, so special education services may be helpful.

Surgery

• Tracheostomy. Newborns with very small jaws and displaced tongues may need a tracheostomy to create a hole in the throat so that 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 of 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 lining of the back of the eye (retina) 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.
• Spinal bracing or fusion surgeries. Children who develop abnormal curves in their spines, such as those seen in scoliosis and kyphosis, may require corrective surgery. Milder curves often can be treated with a brace.