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Stickler syndrome is a genetic condition that affects a child's connective tissue and collagen production. A child with this condition often has distinctive facial features and may have problems with their hearing, joints, and/or vision.
Approximately one in every 7,500 children born has the condition. If a child's parent has the syndrome, they have a 50 percent chance of inheriting it.
The syndrome is caused by a mutation in the genes responsible for producing collagen, which helps build connective tissue. Most often, Stickler syndrome affects collagen in the eyes and joints.
As Stickler syndrome affects the production of collagen, any part of a child's body that relies on collagen can be affected.
Many children with Stickler syndrome also have underdeveloped facial features, such as micrognathia (a small retruded lower jaw), cleft palate or submucous cleft palate, or Pierre Robin Sequence.
Because Pierre Robin Sequence, cleft palate, and micrognathia often present alongside Strickler syndrome, early diagnosis is important to treat airway obstruction or obstructive sleep apnea and feeding and swallowing issues.
Other symptoms include:
In some cases, diagnosis occurs shortly after birth. Other times, depending on the severity of symptoms, it can take longer to diagnose.
A doctor can usually diagnose the syndrome by observing a child’s facial features and seeing if they have any of the specific symptoms of the disorder. Workup may include a physical exam and vision and hearing tests. In some cases, the doctor may recommend x-rays of your child’s joints. To confirm the diagnosis, a blood draw will be done and genetic testing will be performed.
Though many of the symptoms of Stickler syndrome aren’t life-threatening, it’s important to receive appropriate evaluation and treatment. If left untreated, some symptoms can cause further complications later in a child's life. For instance, if a child's retina becomes detached, it can lead to blindness.
If the child is born with a small, retruded lower jaw and has difficulty breathing and eating they may have Pierre Robin Sequence as one of their problems. When a child has a small, retruded jaw, it can result in breathing issues or airway obstruction from the tongue being back too far in the throat. If this is present, a multidisciplinary team of airway and feeding specialists is involved in choosing appropriate testing and interventions. Testing may include:
Surgical procedures are recommended based on the severity of breathing and swallowing issues and may include:
If the child has a cleft palate, they will need to undergo palate repair at approximately 9-14 months of age. Ear tubes may be necessary if the individual has issues with middle ear fluid and ear infections.
Other treatments for Stickler syndrome can include:
If your child has hearing loss, comprehensive hearing testing by an audiologist will be required and there is the potential benefit of hearing aid use. And if their eyes or limbs are affected, eyeglasses or contact lenses and leg or arm braces may also be necessary.
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Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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