Stickler syndrome, sometimes called Stickler dysplasia, is a genetic disorder affecting connective tissues in your face, ears, eyes, and joints. This can affect your eyesight and hearing, and cause bone and joint problems. It may also cause certain facial characteristics, such as flat cheekbones, a small nose, and receding chin.
Most people with Stickler syndrome are diagnosed as a baby or child. About 1 in every 7,500-9,000 newborns have Stickler syndrome, which means it's fairly common. Males and females get it at the same rate. It can be very mild or more serious. But it doesn't affect your lifespan.
You're at higher risk of Stickler syndrome if someone else in your family has it. But sometimes it's the result of a spontaneous genetic change, or mutation.
What Causes Stickler Syndrome?
Stickler syndrome happens when there's a mutation to one of the genes that helps create collagen. Collagen is a protein that basically helps hold your body together. It connects and supports your muscles, skin, and bones.
Most people with Stickler syndrome inherit it in an autosomal dominant manner. This means you only need to inherit one copy of the mutated gene to get the condition.
What Are the Symptoms of Stickler Syndrome?
Stickler syndrome symptoms are different for each person. They might include:
- Bone and joint problems, like stiff or too-flexible joints, curvature of the spine (scoliosis), osteoarthritis, or knock knees
- Ear and hearing issues, like hearing loss or frequent ear infections
- Eye problems, like severe nearsightedness, detached retina, cataracts, or crossed eyes
Many children with Stickler syndrome have similar facial deformities, such as:
- Cleft palate (a split in the roof of your mouth)
- A flattened face with a small nose
- Micrognathia (an irregularly small and sunken lower jaw)
Complications Linked to Stickler Syndrome
In addition to eye, hearing, and joint and bone issues, complications of Stickler's syndrome might include:
- Breathing issues
- Feeding difficulties in babies
- Learning troubles due to hearing and vision problems
How Do Doctors Diagnose Stickler Syndrome?
While the condition is present at birth, doctors may not diagnose a baby immediately. How long it takes to diagnose Stickler syndrome usually depends on how serious the symptoms are.
Doctors can sometimes diagnose a child just from their medical history and a physical exam. But they usually use additional tests to determine how serious the symptoms are. This will also then decide on the best treatment. They may do:
Imaging tests. X-rays can find irregularities or damage within your child’s joints or spine.
Hearing tests. These can measure your child’s ability to detect different volumes and pitches of sound.
Eye exams. Eye tests can help find issues within the jellylike material, called vitreous, that fills the eye or the lining of the eye (retina). This material is crucial for sight. These exams can also check for cataracts and glaucoma.
Genetic testing. Doctors might use genetic testing to confirm a diagnosis or to diagnose a baby before birth. Genetic testing can also be used to determine whether other family members are at risk.
How Do Doctors Treat Stickler Syndrome?
Treatment varies depending on what your symptoms are. Doctors can’t cure Stickler syndrome, but they can treat many of its effects.
These therapies might include:
- Hearing aids
- Corrective lenses, like contacts or eyeglasses
- Medications to help with joint pain
- Physical therapy to strengthen joints
- Speech therapy if hearing loss affects your ability to speak
Your doctor may suggest surgery to fix irregularities caused by Stickler syndrome. These may include:
- Repairing a detached retina
- Surgery to correct a cleft palate
- Replacement or repair of a damaged joint
- A tracheostomy (creation of a hole in the throat) to help with breathing
- Jaw surgery
- Ear tubes to help lower the frequency and seriousness of ear infections
- Spinal bracing or fusion
You can also try home remedies and lifestyle adjustments to help you or your child stay comfortable:
When Should You See a Doctor?
The symptoms of Stickler syndrome aren’t generally life-threatening. But you might be at a higher risk for retinal detachment, which could lead to blindness if left untreated.
Contact a doctor if you or your child has Sticklers and has any of these: