Pierre Robin Sequence

What Is Pierre Robin Sequence?

Pierre Robin Sequence is a congenital, or birth, defect where the child has an underdeveloped jaw, a downward- or backward-positioned tongue, respiratory obstruction, and usually a cleft palate of both the hard and soft tissue.

Pierre Robin is considered a sequence rather than a syndrome because the underdeveloped jaw begins a sequence of events. In a normal sequence of events, the tongue moves down away from the roof of the mouth at around seven to ten weeks gestation, allowing the roof, or palate, of the mouth to form normally. In children with Pierre Robin Sequence, the tongue never drops down because the lower jaw does not fully develop, which interferes with the normal development of the palate.

Pierre Robin Sequence can happen alone or as part of a syndrome. Some of these syndromes include Stickler syndrome and velocardiofacial syndrome. If your child was born with Pierre Robin Sequence as part of another syndrome, you might or might not have had genetic testing to determine your child’s chances of having a birth defect. But any time a child is born with a birth defect, it is natural to feel overwhelmed with the process and challenges that your child might have to face.

Working with our team of surgeons at the Yale Craniofacial Program and a team of interdisciplinary specialists means that your child will receive among the highest-quality, comprehensive care and the latest treatment options available. Each of our team members is dedicated to helping children with birth defects be as happy and healthy as possible, so that they, too, can experience the joys of childhood.

Causes of Pierre Robin Sequence

As a parent, you want to know why your child has Pierre Robin Sequence. Unfortunately, research has not established an exact reason why. In some cases, it may be genetic. Most often, however, it may be due to crowding in the uterus or certain neurological conditions. Pierre Robin Syndrome is caused by the lower jaw not developing properly during fetal development. At about seven to ten weeks of pregnancy, the lower jaw develops faster. These factors allow the child's tongue to move down from the middle of the palate. When the development of the lower jaw does not develop correctly, the tongue may hinder the closure of the palate, which may cause cleft palate as well as other issues.

Pierre Robin Sequence can be a part of another syndrome or it can be isolated. The two most common syndromes that can include Pierre Robin Sequence are Stickler and velocardiofacial. With Stickler syndrome, Pierre Robin Sequence occurs in 10 to 30 percent of cases. With velocardiofacial syndrome, Pierre Robin Sequence occurs about 10 percent of the time.

It is natural to wonder if you will have another child with the condition. If your child has Pierre Robin Sequence because of external factors during pregnancy, then you have a 1 in 8,500 to 14,000 chance of having another child with the condition.

It is also natural to wonder if your child’s children will have Pierre Robin Sequence. If your child has the condition because of external factors during pregnancy, he or she has a minimal chance of passing Pierre Robin Sequence on. If the condition is part of a genetic syndrome, then the chance of having a child with Pierre Robin Sequence depends on the syndrome.

Features of Pierre Robin Sequence

If Pierre Robin Sequence is suspected in your child, the doctor will conduct a careful examination.

Some of the symptoms your doctor will look for are: 

  • Cleft Palate with a rounded or U-shape
  • Small jaw
  • Obstructed airway
  • Large or set-back tongue 
Because your child’s condition may be a sign of a more complex syndrome,  we use 3D CT or MR imaging to 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 condition. In this way, we can better understand how your child’s birth defect will specifically impact his or her health and development.

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 Pierre Robin Sequence. If you are concerned that your child might have Pierre Robin Sequence, please make an appointment with your child's doctor.

Treatments for Pierre Robin Sequence

If your child has Pierre Robin Sequence, you can expect that he or she will receive treatment at different stages. Because the sequence affects different areas, such as the jaw, palate, breathing, feeding, and hearing, a team of interdisciplinary specialists is needed to offer the best care for your child. Our team offers treatment for congenital craniofacial anomalies by some of the best surgeons and specialists in the world. Our internationally renowned surgeons and 18 clinical specialists will offer your child leading-edge treatment and superlative care and support.

Treatment for Pierre Robin Sequence includes:
  • Breathing and Feeding: Before anything else, your baby must be able to breathe. If keeping your baby on his or her belly isn’t enough to keep the airways open, your child might need a small tube placed though the nose into the upper airway.
If these treatments do not work, the lower jaw may need to be enlarged to allow the tongue to come into the mouth. If the breathing obstruction is severe enough, a tracheotomy may be used. Once your baby can breathe, generally feeding is improved.

Cleft Palate and Hearing Problems:
  • Around 12 to 18 months old, the cleft palate will need to be repaired. Because children with cleft palate tend to get a fluid buildup behind the eardrum, small plastic tubes are often inserted into the eardrum at the time of the surgery for clefting.
During the planning stage of surgery, we use the most advanced 3D or MR imaging techniques for a complete understanding of your child’s specific condition. By gathering accurate data, 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