Definition
Stickler syndrome is an inherited disorder than can affect multiple parts of your body, including your eyes, face, ears, heart, bones and joints. The cause of Stickler syndrome is a gene mutation that affects the formation of a connective tissue called collagen. The condition is also called hereditary progressive arthro-ophthalmopathy.
Stickler syndrome is named for a Mayo Clinic doctor named Gunnar Stickler, who described the syndrome in a young boy in 1960. Stickler syndrome is usually diagnosed in young children.
If your child has Stickler syndrome, treating the signs and symptoms can help your child manage the disorder and live a more full, productive life.
Symptoms
The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — vary widely from child to child. A combination of these signs and symptoms are common in children with Stickler syndrome:
- Severe nearsightedness. This common condition, also called myopia, is a vision disorder in which you can see near objects clearly, but objects farther away appear blurry. Children with Stickler syndrome are often born with severe nearsightedness.
- Eye problems. Several conditions, including clouding of the normally clear lens of the eye (cataracts), increased pressure in the eyeball (glaucoma), and tearing of the tissue at the back of the eye (retinal detachment) may be present at birth or occur later in children with Stickler syndrome. These conditions may impair your child's vision or, in some cases, cause blindness.
- Altered facial features. Children with Stickler syndrome often have a somewhat flattened facial structure with a small nose and a slight or absent nasal bridge. These altered features often become less distinctive with age.
- Hearing difficulties. The extent of hearing loss varies among people with this condition. The hearing loss associated with Stickler syndrome tends to worsen over time.
- Excessive joint flexibility. The ability to painlessly extend the joints beyond the normal range of motion is a characteristic of people with Stickler syndrome. As your child gets older, any extreme joint flexibility will likely lessen or disappear and your child may develop achy, swollen and stiff joints.
- Scoliosis. Scoliosis, an abnormal curvature of the spine, may be present in children with Stickler syndrome.
Other signs of Stickler syndrome may include slender arms and legs and long fingers.
When to see a doctor
Having Stickler syndrome increases your child's risk of serious eye complications. Call an eye specialist if your child experiences any of the following symptoms:
- A sudden onset or increase in floaters — tiny bits of debris floating in the eye that appear as clumps or strings
- Flashes of light in one or both eyes
- A shadow over a portion of the visual field
- A sudden blur in vision
These may be symptoms of retinal detachment, a serious eye condition requiring immediate surgical repair.
If you have Stickler syndrome and would like to have children, consider discussing your family plans with a genetic counselor. A genetic professional can explain how your disorder is inherited and its implications for your children, which may help you make informed personal decisions.
Causes
Stickler syndrome is an inherited disorder caused by mutations in certain genes involved in the formation of a protein called collagen. Collagen is the building block of many types of connective tissues, which support your body's internal structures.
Genes are segments of DNA that "code" for all of your characteristics — including traits you can see, such as eye color, and traits you can't see but that can affect your health, such as the propensity to develop high cholesterol.
You receive your genes, which occur in pairs, from your parents. One half of each pair is inherited from your mother, and the other half is from your father. Some gene pairs can be made up of one dominant gene and one recessive gene. In these instances, the effect of a dominant gene "masks" the effect of a recessive gene. This pattern of inheritance is called autosomal dominant inheritance. If a dominant gene is mutated — as in the case of Stickler syndrome — disease may result.
If you have Stickler syndrome and your partner does not, the chances that you'll pass the condition on to any of your children is 50 percent. Rarely, people may develop Stickler syndrome without inheriting a mutant gene. In these cases, Stickler syndrome results from a random mutation in one or more of your genes. It's not certain why random gene mutations occur.
Risk factors
Sticker syndrome is an inherited disorder. If you have Stickler syndrome and your partner does not, your child has a 50 percent chance — or a probability of one in two — of developing the condition.
Complications
Some of the more severe complications of Stickler syndrome may develop in your child's eyes:
- Glaucoma. Glaucoma refers to an eye disorder characterized by pressure building within your eyeball. Increased pressure pinches the nerve that relays the signal for sight from the retina to your brain (optic nerve). Untreated glaucoma will eventually cause blindness.
- Retinal detachment. This is a serious eye complication resulting from Stickler syndrome. Retinal detachment occurs when the thin layer of tissue at the back of your eye (retina) pulls away from its nourishing collection of blood vessels, called the choroid. If left untreated, blindness will result.
Other potential complications include:
- Deafness. The hearing loss associated with Stickler syndrome may become more severe over time and can eventually result in deafness.
- Osteoarthritis. Swollen and painful joints may indicate that your child has premature onset of osteoarthritis, a condition in which the cartilage in the joints deteriorates. In severe cases, hip or knee joint replacement surgery may be necessary to replace your child's damaged joints.
- Ear infections. Children with facial structure abnormalities are more likely to develop ear infections than are children with normal facial features.
- Difficulty breathing or feeding. Children born with facial abnormalities that include an opening in the roof of the mouth (cleft palate), a large tongue and a small lower jaw (Robin's syndrome), may experience difficulty feeding or breathing.
Tests and diagnosis
Your doctor may suspect Stickler syndrome based on a combination of the following signs and symptoms:
- Eye abnormalities at birth. Eye examinations help detect eye problems that are often present at birth in children with Stickler syndrome. These include a clouding of the normally clear lens of your eye (cataracts) or a defect in the jelly-like material (vitreous) filling your eye. Severe nearsightedness may be observed in older children who take vision tests.
- Impaired hearing. 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.
- Altered facial features. During a physical exam, your doctor examines your child's face for features specific to Stickler syndrome — a flattened facial structure, a small nose, and a slight or absent nasal bridge. Some children also have a series of facial abnormalities that include an opening in the roof of the mouth (cleft palate), a large tongue and a small lower jaw.
- Excessive joint flexibility. Your doctor may stretch your child's arms and legs to determine the extent of his or her flexibility. If your child has Stickler syndrome, he or she may be able to extend the arms and legs beyond the range of motion that is comfortable for most people.
- Mitral valve prolapse. Mitral valve prolapse, a disorder in which one of your heart valves doesn't close properly, has been reported in people with Stickler syndrome. Your doctor may detect this condition while listening to your child's heart with a stethoscope.
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.
