Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood.

Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped out facial appearance and a receding chin. They are often born with an opening in the roof of the mouth (cleft palate).

While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications. In some cases, surgery may be needed to correct some of the physical abnormalities associated with Stickler syndrome.

The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — can vary widely from person to person.

  • Eye problems. In addition to severe nearsightedness, children who have Stickler syndrome often experience cataracts, glaucoma and retinal detachments.
  • Hearing difficulties. The extent of hearing loss varies among people who have Stickler syndrome. It usually affects the ability to hear high frequencies.
  • Bone and joint abnormalities. Children who have Stickler syndrome often have overly flexible joints and are more likely to develop abnormal curvatures of the spine, such as scoliosis. Osteoarthritis can begin in adolescence.

When to see a doctor

Regular follow-up visits, as well as yearly visits to 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 every six months in children through age 5 and then yearly thereafter.

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 vitreous jelly found within the eyes.

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.

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

Potential complications of Stickler syndrome include:

  • Difficulty breathing or feeding. Breathing or feeding difficulties may occur in babies born with an opening in the roof of the mouth (cleft palate), a small lower jaw and a tendency for the tongue to drop back toward the throat.
  • Blindness. Blindness can occur if glaucoma or cataracts go 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 may worsen with time and a small percentage of people with Stickler syndrome eventually become completely deaf.
  • Heart problems. Some people with Stickler syndrome may be at higher risk of heart valve problems.
  • 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.

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); in joint care (rheumatologist); or in spine care (orthopedist). 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:

  • 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?

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. These 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 jelly-like material (vitreous) that fills the eye or the lining of the eye (retina), which is crucial for sight. Eye exams also can 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 the gene on to your children when the hereditary pattern is not clear from the family history. Genetic counseling should be provided for affected people.

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

Medications

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

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 may also 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.
  • 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.
Jan. 28, 2014