About Stickler Syndrome
Stickler syndrome is a group of genetic conditions that affect the development of connective tissue, specifically collagen, in the body. These hereditary conditions are congenital (present at birth) and are characterized by facial abnormalities, ocular problems, hearing loss, and joint problems. In the United States, an estimated 1 in 7,500 to 9,000 newborns are born with Stickler syndrome each year. The condition affects males and females equally.
Causes and Genetics
As a baby grows, its body develops collagen to build protein, skin, muscles, bones, and connective tissue. In children with Stickler syndrome, the genes required for this process mutate, resulting in disrupted development. This disruption causes physical issues throughout childhood and adulthood. There are several variants of these genes, which results in the differing types of Stickler Syndrome. Currently, the condition is characterized as Type I, II, III, IV, V, and VI.
An inherited condition, Stickler syndrome is passed down by genetic material in the family’s DNA. Sometimes, an affected person may inherit a gene variant from one parent. Other patients may develop Stickler syndrome without any family history linked to the condition, or the parents may not exhibit overt characteristics. Because of this variance, the severity and types of symptoms can differ significantly from patient to patient and even within families. Due to the progressive nature of Stickler syndrome, symptoms may grow worse as patients age.
Symptoms and Complications
Facial Features:
Children with Stickler syndrome often exhibit distinctive facial features. The most common sign is a flattened facial structure caused by underdeveloped bones in the face. This is part of a group of physical features called Pierre Robin sequence. Children with Pierre Robin sequence typically exhibit a cleft palate, a small lower jaw, and a tongue placed further back in the mouth. As a result of these facial features, people with Stickler syndrome may have trouble eating and speaking.
Vision Problems:
Another common symptom is vision issues. These include nearsightedness, increased pressure within the eye, cataracts, and retinal detachment. Routine eye exams can reveal these issues early and lead to successful treatments, but some patients may be at risk of impaired vision or blindness.
Hearing Loss:
In some cases, patients with Stickler syndrome can develop hearing loss. These issues may be present early on in development or worsen as the person ages. Like other features of Stickler syndrome, the severity of hearing loss varies from patient to patient. Children diagnosed with the condition should receive regular examinations to ensure their hearing is progressing regularly.
Joint and Skeletal Issues:
Stickler syndrome impacts the development of connective tissue, so joint and skeletal issues are often associated with the condition. As children grow, they may start exhibiting painful symptoms in their musculoskeletal system. This includes general arthritis, joint pain, and spinal abnormalities. While growing pains are a common symptom of puberty, the pain associated with Stickler syndrome is more severe and prolonged.
Diagnosis
Early detection is a key component to properly identifying and managing Stickler syndrome. Due to the distinctive facial features associated with the condition, your pediatrician can often identify initial signs and order further tests to confirm or deny the diagnosis. These tests are performed during routine physical exams in the months after birth and during the child’s early years.
If a diagnosis of Stickler syndrome is suspected, your doctor will order further testing. The most accurate and accepted diagnosis is genetic testing. These tests require a simple blood draw from the child that looks for mutations in the genome. Due to the possibility of a false positive, the pediatrician will use these results alongside a physical examination of the patient and family history.
Treatment and Management
- Vision Care: All growing children should receive eye exams. This is especially important for Stickler syndrome as the condition may cause vision issues, especially deterioration in the retina. In some patients, corrective lenses may be sufficient for managing vision-based symptoms. In others, surgery could be necessary to prevent retinal detachment and vision loss.
- Hearing Aids: These devices are pivotal for treating progressive hearing loss. If your child is diagnosed with Stickler syndrome, pediatricians will work to determine whether a device can help manage their condition. If so, the doctor will have your child fitted for a device that is specific to their symptoms and body.
- Physical and Occupational Therapy, Orthopedics, and Pain/Anti-Inflammatory Medications: Due to the mobility issues and pain associated with Stickler syndrome, pediatricians will often prescribe physical and occupational therapy. These therapies are designed to help children learn proper motion and balance, regain mobility, and manage pain. As a child grows, they may also need orthopedics or braces to correct imbalances in their musculoskeletal system. Pain and anti-inflammatory medications may be prescribed, but should only be used under the supervision of a pediatrician.
- Speech Therapy, Palate and Jaw Surgery: The physical features associated with Stickler syndrome and Pierre Robin sequence can inhibit speech and feeding. Patients may need speech therapy to learn how to develop proper speech patterns. For some patients, surgical options of the jaw or palate may be recommended to correct any issues with feeding and speech.
Living with Stickler Syndrome
Current research shows that Stickler syndrome does not affect life expectancy. Rather, the disease can be managed and treated using modern medicine. Beyond medical interventions, family support is a key part of helping children with the condition. As children grow, their families are pivotal sources of comfort and encouragement. They may need extra care and attention while attending school and participating in other activities. It’s important to set up open lines of communication with teachers and key personnel to ensure they understand your child’s condition, and further, whether any accommodations need to be made.
At Rady Children’s, we want to make sure you have the proper resources to help your child diagnosed with Stickler syndrome. In addition to our Rady Specialists and Rady Children’s Speech-Language Pathology Department, we offer comprehensive services that include individual, paired-peer, and group therapy, along with community and caregiver education.
- Special Needs Resource Foundation of San Diego
- The Marfan Foundation
- NORD (National Organization of Rare Disorders)
Contact Us
Stickler syndrome is a genetic condition that researchers are still working to fully understand. As more research develops, the treatments will evolve alongside new information. At Rady Children’s, we emphasize early detection, diagnosis, and treatment to help best manage Stickler syndrome. Stickler syndrome is different in each patient and our pediatricians will work with your family to find the best treatment path and help your child to live a happy, healthy life.