Pierre Robin sequence is a congenital (present at birth) condition that involves having a very small lower jaw (micrognathia) or a lower jaw that is set back from the upper jaw (retrognathia). The small lower jaw allows the tongue to be placed back and downward (glossoptosis), which can cause airway obstruction. This may develop over the first one to four weeks of life. Most babies with Pierre Robin sequence also have a cleft palate.
Pierre Robin sequence is named after French doctor Pierre Robin, who first described it in 1923. One in 2,000 to 30,000 babies has Pierre Robin sequence, according to the Cleft Palate Foundation.
Approximately half of babies with Pierre Robin sequence are also born with one or more other conditions, such as Stickler syndrome. Stickler syndrome involves small bones of the face, eye abnormalities, joint problems and hearing loss and is typically caused by changes in the collagen gene.
Pierre Robin sequence can show various symptoms that cause complications with:
- Breathing. The first sign of airway blockage (obstruction) is often rapid breathing. Your baby’s breathing may be noisy or sound like snoring or a high-pitched noise called stridor. Your baby may also sweat and be restless and/or irritable. Cyanosis (turning blue) is another sign of airway blockage. If your baby shows signs of airway blockage, you should report it to his or her doctor right away; the doctor may perform tests to determine whether special treatment is needed. A sleep study can check your baby’s breathing pattern, heart rate, oxygen level in the blood and carbon dioxide levels. Your baby will be observed while awake, asleep, eating and, most likely, in a car seat. The sleep study results will help guide your doctor in determining what treatment is best for your child. Treatment may include special sleep positioning requiring an apnea monitor, oxygen and/or an operation to help them breathe better. Most babies with Pierre Robin sequence outgrow their breathing problems by the time they are 6 months to 8 months old because the jaw grows quickly and moves the tongue away from the back of the throat. The baby also learns to control the tongue over time. However, a baby with Pierre Robin sequence will always have an airway that is smaller than normal.
- Feeding. If your child also has a cleft palate, he or she may have some trouble feeding as a newborn. The open palate makes it hard for the baby to suck. The baby can only get the formula out of a bottle by pressing the nipple against the gums or roof of the mouth using the tongue. It is even harder for babies to suck and swallow when they have trouble breathing. To determine whether your baby can suck, swallow and breathe safely, a doctor may order oxygen level tests and swallowing tests that are done via video X-ray during feeding. A feeding team can then be consulted for recommendations in creating a specialized plan to feed your baby safely and efficiently.
- Hearing. When a baby has a cleft palate, it is easy for fluid to collect inside the ears. When fluid sits in the ear, bacteria can grow and cause an ear infection. Fluid and infection can cause a temporary loss of hearing. If your baby develops a fever, is irritable, is crying, is not sleeping well or is pulling on his or her ears, the doctor or nurse practitioner should be consulted. These symptoms often happen at the same time as a cold or runny nose. If your baby has an ear infection, your child's doctor may prescribe an antibiotic. Your baby should also be checked by an otolaryngologist (ear, nose and throat doctor). The otolaryngologist should be a doctor who works with a cleft palate team or is familiar with caring for babies with cleft palate.
- Speech. The palate is important for speech. Your child may have trouble making some sounds when he or she begins to talk. Speech therapy is often recommended. Your child should see a speech pathologist who is experienced with children who have cleft palates.
Diagnosis of Pierre Robin Sequence
Pierre Robin sequence can be diagnosed prenatally (before birth) via a routine ultrasound. After the baby is born, Pierre Robin sequence is diagnosed through a combination of physical exam and other tests as requested by your child's doctor. A geneticist can help determine whether your baby has a related syndrome through genetic testing.
Treatment options are individualized to your child's needs. Treatment for Pierre Robin sequence may include:
- Cardiac apnea monitor. Most babies with Pierre Robin sequence need a cardiac apnea monitor at home. This machine checks your baby’s heart rate and breathing constantly. The device alerts you if your baby’s heart rate is too fast or too slow or if the chest stops moving. You will be instructed on how to use the monitor and what to do if there is a problem.
- Intubation. In cases of serious airway obstruction, options in the hospital include nasopharyngeal intubation (where a tube is temporarily put into the nose) and endotracheal intubation (where a tube is put through the mouth).
- Home oxygen treatment. If a sleep study shows that your baby does not have enough oxygen in his or her blood, the doctor may prescribe home oxygen treatment. This oxygen may only be required during sleep, or it may be required at all times. This oxygen is provided through a home medical equipment provider. A trained staff shows you how to use this equipment safely and properly.
- Car bed. Based on the results of your child’s sleep study, the doctor may say you should use a special car bed instead of a car seat. Car beds let your baby travel lying on his or her stomach so the tongue can fall forward and help the airway stay open. The home cardiac apnea monitor needs to be used in conjunction with a car bed. Your child's doctor makes arrangements for you to obtain a special car bed if needed.
- Jaw lengthening surgery. Some babies need an operation to help with their breathing. One such procedure is called mandibular distraction osteogenesis. In surgery, distraction devices are attached to the lower jaw bone on each side of the face. A screw is turned daily to make the jaw bone grow longer. Moving the lower jaw gradually forward helps move the tongue forward and makes your baby’s airway larger. Sleep studies help the surgeon know when the screws no longer need to be turned and the devices can be surgically removed. It usually takes the jaw three to four weeks to reach the desired length. It takes another six to eight weeks for the jaw to heal completely.
- Tracheostomy. In rare cases, the doctor may make a small hole in front of your baby’s neck and put a tube directly in the airway to help with breathing. This is called a tracheostomy.
- Ear tubes. If your baby has frequent ear infections or fluid in his or her ears, surgically placed ear tubes called bilateral myringotomy tubes (BMTs) may be recommended. These tubes help drain fluid out of the ears. This should improve hearing and help your baby get fewer infections.
Key Points To Remember
Key Points To Remember
- Pierre Robin sequence is a congenital (present at birth) condition that involves having a very small lower jaw (micrognathia) or a lower jaw that is set back from the upper jaw (retrognathia).
- Most babies with Pierre Robin sequence also have a cleft palate.
- The condition can show various symptoms that cause complications with breathing, feeding, hearing and speech.
- Your baby’s breathing may be noisy or sound like snoring or stridor (a high-pitched noise).
- Treatment options are individualized to your child’s needs.
Support Services & Resources
Support Services & Resources
Learn more about Pierre Robin sequence and find resources and support at the websites below.
Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.
This nonprofit organization addresses medical, financial, psychosocial, emotional and educational concerns relating to Pierre Robin sequence and other craniofacial conditions.
This nonprofit organization offers information and support to parents of children with Pierre Robin sequence and other craniofacial conditions.
In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.