Stickler syndrome

Diagnosis

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

• Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.
• Eye exams. These exams can help your doctor detect problems with the jellylike material (vitreous) that fills the eye or with the lining of the eye (retina), which is crucial for sight. Eye exams can also check for cataracts and glaucoma.
• Hearing tests. These tests measure the ability to detect different pitches and volumes of sound.

Genetic testing is available to assist in diagnosis in some cases. Genetic testing can also be used to help in family planning and to determine your risk of passing on the gene to your children when the hereditary pattern is not clear from the family history. Genetic counseling should be provided for affected people.

Treatment

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.

Lifestyle and home remedies

• Try pain relievers. Over-the-counter drugs such as ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) may help relieve joint swelling, stiffness and pain.
• 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.

Preparing for your appointment

In many cases, the signs and symptoms of Stickler syndrome will be apparent while your child is still in the hospital after birth. After diagnosis, your child should be monitored regularly by doctors who specialize in areas specific to your child's condition.

What you can do

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

• Has anyone in your immediate or extended family had problems similar to this?
• What medications and supplements does your child take?
• Are your child's vision or hearing problems interfering with his or her schoolwork?

What to expect from your doctor

Your doctor may ask some of the following questions:

• Does your child seem to have any vision problems?
• Has your child ever seen an abundance of floaters or flashing lights within his or her eyes?
• Does your child seem to have any trouble hearing?
• Have any of your child's symptoms worsened recently?
• Does your child limp or complain of joint pain?