Stickler syndrome is a disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is often diagnosed during childhood.
Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose and a receding chin. Having a small jaw with a tongue that has restricted movement can result in breathing and feeding difficulties during infancy.
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 — vary widely from person to person. A combination of these signs and symptoms is common in people who have Stickler syndrome.
Pierre Robin sequence
Altered facial features
Bone and joint abnormalities
When to see a doctor
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:
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 include:
Preparing for your appointment
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
What to expect from your doctor
Tests and diagnosis
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.
Treatments and drugs
There's no cure for Stickler syndrome. Treatment addresses the signs and symptoms of the disorder.
Lifestyle and home remedies
Last Updated: 2010-12-04
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