Stickler Syndrome
What Is Stickler Syndrome?
If your child has been born with Stickler syndrome, it is likely that the gene is carried by one or both of the parents. If you consulted a geneticist before getting pregnant, it is still natural to feel overwhelmed when considering the complications and treatments your child will face.
Our bodies have three collagen genes that tell the body to make collagen for connective tissues. Stickler syndrome is a genetic mutation affecting one of the three collagen genes. Without proper collagen production for the connective tissue, a muscle’s ability to stretch and contract becomes hindered. Connective tissue is important for the eyes, ears, and joints; therefore, your child might have problems seeing and hearing. Facial and skeletal development may also be affected.
At the Yale Craniofacial Program, our world-class team of surgeons and specialists will provide your child with compassionate, state-of-the-art care. Our specialists collaborate to provide each patient with a carefully devised, individually tailored, multidisciplinary plan of treatment. With a special interest in children with birth defects, we know how important it is that the parents feel comfortable with the treatment plan. That is why we offer you support every step of the way, making certain you understand every procedure and process your child will undergo.
Our bodies have three collagen genes that tell the body to make collagen for connective tissues. Stickler syndrome is a genetic mutation affecting one of the three collagen genes. Without proper collagen production for the connective tissue, a muscle’s ability to stretch and contract becomes hindered. Connective tissue is important for the eyes, ears, and joints; therefore, your child might have problems seeing and hearing. Facial and skeletal development may also be affected.
At the Yale Craniofacial Program, our world-class team of surgeons and specialists will provide your child with compassionate, state-of-the-art care. Our specialists collaborate to provide each patient with a carefully devised, individually tailored, multidisciplinary plan of treatment. With a special interest in children with birth defects, we know how important it is that the parents feel comfortable with the treatment plan. That is why we offer you support every step of the way, making certain you understand every procedure and process your child will undergo.
Causes of Stickler Syndrome
You may already be aware that Stickler syndrome is hereditary in one or both of the parents’ families. Stickler syndrome is an autosomal dominant condition, which means only one parent needs to have the gene in order to pass the syndrome on to the child. A parent with Stickler syndrome has a 50 percent chance of passing the syndrome on. Genetic testing for Stickler syndrome is available for two known genetic causes.
If your child has Stickler syndrome, but neither parent has the gene, you are probably wondering how your child got the syndrome. Stickler syndrome, as with any genetic mutation, can occur randomly, creating a new genetic mutation. Although it is normal to feel guilt, wondering if there was something done during pregnancy to cause the syndrome, research has not made any link between anything the mother did during the pregnancy to cause the condition.
It is natural to wonder if you will have another child with Stickler syndrome. If either of the parents carries the mutation, there is a 50 percent chance you will have another child with Stickler syndrome. If your child has Stickler syndrome as a result of new genetic mutation, then the chances of having another child with Stickler syndrome is minimal.
It is also natural to wonder if your child will have children with Stickler syndrome. He or she has a 50 percent chance of passing the genetic mutation onto his or her child.
If your child has Stickler syndrome, but neither parent has the gene, you are probably wondering how your child got the syndrome. Stickler syndrome, as with any genetic mutation, can occur randomly, creating a new genetic mutation. Although it is normal to feel guilt, wondering if there was something done during pregnancy to cause the syndrome, research has not made any link between anything the mother did during the pregnancy to cause the condition.
It is natural to wonder if you will have another child with Stickler syndrome. If either of the parents carries the mutation, there is a 50 percent chance you will have another child with Stickler syndrome. If your child has Stickler syndrome as a result of new genetic mutation, then the chances of having another child with Stickler syndrome is minimal.
It is also natural to wonder if your child will have children with Stickler syndrome. He or she has a 50 percent chance of passing the genetic mutation onto his or her child.
Symptoms of Stickler Syndrome
In order to determine if your child has Stickler syndrome, a doctor will examine his or her face, head, mouth, and joints. Your doctor may also perform genetic tests to rule out the possibility that your child has a different syndrome that may present similar issues.
Using 3D CT imaging, we can provide a diagnosis more quickly and with more accuracy than ever before. Traditional CT scans provide black and white, one-dimensional scans, while advanced 3D imaging technology provides colored, multidimensional images that allow us to see the specific characteristics of your child’s craniofacial differences. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development.
Upon examination, here are some of the symptoms that the doctor will look for in your child:
This list should be used as a guideline. Not every symptom is included. If your child has one or more of these symptoms, it does not mean that he or she has Stickler syndrome. If you are concerned that your child might have Stickler syndrome, please make an appointment with your child's doctor.
Using 3D CT imaging, we can provide a diagnosis more quickly and with more accuracy than ever before. Traditional CT scans provide black and white, one-dimensional scans, while advanced 3D imaging technology provides colored, multidimensional images that allow us to see the specific characteristics of your child’s craniofacial differences. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development.
Upon examination, here are some of the symptoms that the doctor will look for in your child:
- Pierre Robin Sequence: some babies born with Stickler syndrome have Pierre Robin Sequence.
- Face: although facial features vary greatly, the doctor will look for prominent eyes, shallow eye sockets, a flat nasal bridge, flat cheekbones, and cleft palate.
- Body: features of the body may include a short stature; long, thin arms and legs; and occasionally clubfeet.
This list should be used as a guideline. Not every symptom is included. If your child has one or more of these symptoms, it does not mean that he or she has Stickler syndrome. If you are concerned that your child might have Stickler syndrome, please make an appointment with your child's doctor.
Treatments for Stickler Syndrome
If your child has Pierre Robin Sequence because of Stickler syndrome, your child will need a comprehensive team of specialists. Our team of internationally recognized surgeons and specialists will offer your child leading-edge treatment and superlative care for the problems associated with Stickler syndrome and Pierre Robin Sequence. Issues include deformities in the jaw and palate, breathing and feeding problems, and impaired hearing.
During the planning stage, we use the most advanced 3D imaging techniques for a complete understanding of your child’s specific condition and how your child’s soft and bony tissues are affected. By gathering accurate data about your child’s craniofacial differences, we can:
Cleft Palate and Hearing Problems:
During the planning stage, we use the most advanced 3D imaging techniques for a complete understanding of your child’s specific condition and how your child’s soft and bony tissues are affected. By gathering accurate data about your child’s craniofacial differences, we can:
- Simulate the outcome of proposed surgical plans and adjust any discrepancies before surgery
- Follow and monitor your child’s condition during the post-surgical healing process
- Monitor your child’s long-term development
- First and foremost, your child must be able to breathe. If keeping your baby on its belly is not enough to keep the airways open, he or she might need a small tube placed though the nose into the upper airway.
Cleft Palate and Hearing Problems:
- At around 12 to 18 months old, surgery to close the cleft palate will be necessary. At the same time, if needed, tubes will be inserted into the eardrum to help drain excess fluid often associated with cleft palate.
