Pierre Robin sequence is a condition consisting of micrognathia, glossoptosis, and airway obstruction. Micrognathia describes a very small mandible, or lower jaw. The condition often includes a cleft palate, which some authors include in the diagnostic criteria for the condition. Micrognathia refers to a very small mandible, or lower jaw. Glossoptosis is defined as posterior, or backward, placement of the tongue. This leads to a blocked upper airway, or tongue-based airway obstruction. Pierre Robin sequence is reasonably common. 
What causes the Pierre Robin sequence?
The findings and symptoms in Pierre Robin sequence are believed to be a result of a sequence of events during development. Simply put, the development of a very small mandible leads to posterior displacement of the tongue, which leads to airway obstruction.
The hallmark finding is a very small mandible, known as micrognathia. The mandible is small in both the vertical dimension (the height of the mandible) and the horizontal dimension (its length.) The second finding, glossoptosis, refers to posterior displacement of the tongue. The tongue is intimately associated with the mandible, and the position of the mandible largely dictates the position of the tongue. Therefore, a short mandible will result in a backwards position of the tongue in the mouth and pharynx. The tongue is usually noted to have a normal size. The very small size of the mandible decreases the size of the oral cavity. The tongue is forced backward into the posterior pharynx (back of the throat) in order to fit into this small oral cavity. The last finding, airway obstruction, is due to the displacement of the tongue into the posterior oropharynx, which obstructs, or blocks, the flow of air into the airway.
Pierre Robin sequence is often associated with a cleft palate. This may be considered to be a result of the sequence of events during development, as well. The palate develops from right and left palatal shelves. During the 8th week of development, the palatal shelves, which are at this time vertically oriented (up and down rather than across), become horizontally oriented and fuse (see figure 1). In order for this to occur, the mandible needs to be sufficiently large that the tongue can “get out of the way” of the palatal shelves. It is thought that the poor mandibular growth in Pierre Robin sequence precludes the tongue from descending below the closing palatal shelves, preventing their fusion.
Pierre Robin sequence occurs in isolation, without being associated with a syndrome, in approximately 40% of patients. In 60% of patients, another syndrome is associated. The most common associated syndromes are Stickler syndrome and Velocardiofacial syndrome. Stickler syndrome is a hereditary condition in which patients have craniofacial abnormalities, eye abnormalities, hearing loss, and joint abnormalities. Velocardiofacial syndrome, or 22q11 deletion syndrome, is a genetic syndrome consisting of facial and palatal abnormalities, heart defects, immune and endocrine system abnormalities, speech and feeding problems, and other symptoms. Please see the Stickler and 22q11 deletion syndrome pages on this website.
What are the symptoms of Pierre Robin sequence?
Patients with Pierre Robin sequence present with micrognathia (small mandible or lower jaw), and airway obstruction. The airway obstruction may be severe and noticeable, requiring immediate intervention, or it may be more subtle. Patients often have feeding difficulties, and may have gastroesophageal reflux and episodes of aspiration (inhaling liquids). The feeding difficulties are partly due to the airway obstruction, as affected infants struggle to breathe during feeding, and partly due to a poorly understood mechanism. Patients may present with failure to thrive and an inability to gain weight. Patients with cleft palates may need special bottles to help them feed. Here is a list of associated symptoms:
Common symptoms of tongue based airway obstruction include:
- Small, irregularly and asymmetrically shaped mandible (lower jaw)
- Stertor: the noise made by the tongue sucking up against the pharynx on inspiration. This is differentiated from stridor which is the noise made by a dysfunctional vocal cord (s).
- Gasping
- Bluish discoloration: caused by low blood oxygenation.
- Fussiness
- Chest retractions on inspiration
- Poor feeding: difficulty coordinating suck, swallow, breath cycle because of the rapid inefficient breathing.
- Glossoptosis: noted by only being able to see the underside of the tongue when looking in the mouth, usually with the tongue tip pointing upward toward the roof of the mouth.
- Failure to gain weight or losing weight
How is Pierre Robin sequence diagnosed?
Diagnosis of Pierre Robin sequence is largely based on patient history and physical examination. The triad of micrognathia, glossoptosis, and airway obstruction confirms the diagnosis. Assessment of patients suspected of Pierre Robin sequence is best performed by an expert team experienced with the management of these patients. The team consists of craniofacial surgeons, pediatric otolaryngologists, pediatric pulmonologists, speech therapists, craniofacial pediatricians, pediatric anesthesiologists, and often the neonatal intensive care unit (NICU) team. Geneticists are involved if a syndrome is suspected.
How is Pierre Robin sequence treated?
Certain patients have sufficient airway obstruction that immediate intervention is required. This involves admission to the NICU. Patients with severe airway obstruction may require intubation, or insertion of a breathing tube. Patients with less severe obstruction may be managed initially by positioning on the side or prone. This allows for gravity to pull the tongue base from the airway, allowing the patient to breathe. Patients are assessed by speech therapists for feeding. Certain patients are unable to sustain adequate nutrition because of inefficient feeding or inability to consume sufficient calories to sustain the obstructive breathing, which consumes large amounts of calories. Around the clock feeding via a nasogastric tube may be required to sustain the baby’s weight.
For those patients that do not require immediate intervention, assessment of the degree of obstruction and assessment of the airway is performed. Evaluation of the degree of obstruction, or pediatric obstructive sleep apnea, is performed using a polysomnogram. The patient is monitored overnight in a sleep lab, and data including the number and severity of obstructive episodes, as well as the degree of oxygen desaturation during these episodes, are collected. Airway evaluation may be performed in the NICU or in the operating room, depending on the institution. In our practice, airway evaluation occurs in the operating room with both the pediatric otolaryngologist and craniofacial surgeon present. The patient is sedated, and a rigid endoscope is used to assess the airway below the vocal cords. If there are anomalies of the trachea, such as tracheomalacia in which the trachea is narrowed, treatment of the tongue-based airway obstruction will not adequately address the breathing problem. Next, a flexible endoscope is inserted through the nose and the airway at the tongue base is assessed. If the tongue does appear to be the reason for the obstruction, the jaw is thrust forward and the tongue is pulled forward to determine if this will correct the problem.
Once the degree and level of obstruction is determined, treatment is planned. Treatment may consist of nonsurgical or surgical management. Patients with mild obstruction may respond to nonsurgical treatment, such as positioning the patient prone or on their side. Another nonsurgical option consists of inserting a tube, called a nasopharyngeal (NP) tube through the nose. The NP tube extends past the tongue base and bypasses the level of obstruction. NP tubes are very difficult to maintain in neonates, and we use them very rarely. Patients with severe obstruction benefit from surgical management in the form of mandibular distraction osteogenesis.
Tongue-lip adhesion is a procedure performed in the past in which flaps are elevated from the mucosa (pink lining) at the underside of the tongue and the lower lip. The tongue is then sutured to the lower lip and the anterior (front) mandible. This pulls the tongue forward, relieving the tongue base obstruction. As one can imagine, sewing the tongue to the lip can cause many secondary problems with eating and speech development.
Distraction osteogenesis of the mandible has become a first-line therapy for management of severe airway obstruction in Pierre Robin patients. Please see the distraction osteogenesis page on this website. With this procedure, the osteotomies, or bone cuts, are made in the mandible on both sides. Devices called distractors are placed across the bone cuts. The devices are turned each day, gradually lengthening the mandible. Once the desired length is reached, and the obstruction is corrected, the turning is stopped. Often, the length of the mandible is overcorrected (the mandible juts out compared to the maxilla, or upper jaw). The maxillary growth rapidly overcomes this overcorrection. The devices are left in place while the new bone forms, called the consolidation period, over 2-3 months. The patient is then taken back to the operating room for removal of the devices.
After surgery, patients with Pierre Robin often require continued support regarding feeding from the speech therapy team. Some patients require a feeding tube during this time. A repeat polysomnogram is performed several months after treatment. Patients with cleft palate typically undergo repair at around 9-12 months of age, although some patients undergo later repair if there is residual airway obstruction.
Please contact the Craniofacial Team of Texas if you would like to schedule an appointment.
If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.
Pierre Robin Sequence (PRS) is a condition present at birth, in which the infant has a smaller-than-normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. The exact causes of Pierre Robin sequence are unknown.
It is called a sequence and not a syndrome because the underdeveloped lower jaw begins a sequence of events, which leads to the abnormal displacement of the tongue and subsequent disruption of the formation of a normal palate.
Symptoms of Pierre Robin Sequence (PRS)
- Cleft of the palate or the soft palate
- High-arched palate
- Jaw that is very small with small (receding) chin
- Jaw that is far back in the throat
- Repeated ear infections
- Small opening in the roof of the mouth, which may cause choking or regurgitation of liquids through the nose
- Teeth that appear when the baby is born (natal teeth)
- Tongue that is large compared to the jaw
- Breathing problems while sleeping including difficulty breathing, gasping for air or snoring
- Problems feeding and gaining weight
- Reflux and choking episodes
Exams and Tests for Pierre Robin Sequence (PRS)
A health care provider can usually diagnose this condition during a physical exam. Consulting with a genetic specialist can rule out other problems linked to this condition and possible association with a syndrome.
A sleep study may be required to document breathing problems while sleeping. This will require the infant or the child to sleep at a specialized study lab to record your child’s sleep patterns. Your child will stay at the hospital overnight for the test with one parent or caregiver. A sleep study records brain waves, heartbeat, eye movements, leg movements, breathing patterns and oxygen levels.
Treatment for Pierre Robin Sequence (PRS)
The Craniofacial Team of Texas has extensive experience with Pierre Robin syndrome and the associated symptoms and treatments. We take a multidisciplinary approach to address individual needs of our patients and their families.
Infants with this condition should NOT be put on their back, to prevent the tongue from falling back into the airway. For infants with more severe Pierre Robin sequence, the risk of aspiration (inhaling fluid into the lungs) during feeding can be high. In addition, the baby may struggle to move milk to the back of the throat and swallow, while trying to breath. In this case significant calories for weight gain can be lost. Feeding must be done very carefully to avoid choking and breathing liquids into the airways. The child may need to be fed through a tube sometimes to prevent choking.
In moderate cases, the patient may need to have a tube placed through the nose and into the airways to avoid airway blockage. In severe cases, a surgery called distraction osteogenesis of the lower jaw is needed to prevent a blockage in the upper airway. This is called neonatal jaw (mandibular) distraction. Mandibular distraction is a procedure involving surgically cutting the lower jaw bone and placing either an internal (in the mouth) or external (through the skin) device. This device can be slowly adjusted to lengthen the jaw thus increasing the size of the lower jaw which in turn, pulls the tongue out of the back of the throat. This helps to resolve obstructive sleep apnea and potentially avoid tracheostomy. Alternatively, some patients still may need surgery to make a hole in the windpipe (tracheostomy).
Infants are put to sleep for the procedure and then monitored in our Newborn Intensive Care Unit (NICU). They may require narcotics for a few days and then are routinely treated with OTC pain killers.
Once the jaw has moved to the correct position and it is stable, a second surgery is performed to remove the metal device.
If the child is born with a cleft of the hard or soft palate, the surgery to close the cleft is still needed at a later time. Allowing the baby to grow and breathe properly by addressing any initial problems ensures that a successful cleft repair surgery happens at the right time.
Will future children be affected by a Parent with of Pierre Robin Sequence (PRS)?
It is important to understand that Pierre Robin Sequence can occur by itself (described as “isolated”) or as a part of another syndrome. Parents who have had one child with isolated Pierre Robin Sequence probably have between a 1 and 5% chance of having another child with this condition.
When Pierre Robin Sequence is observed in patients with Stickler Syndrome, Velocardiofacial Syndrome, or Treacher Collins Syndrome, genetic factors will influence whether more affected children will be born. Pierre Robin Sequence also occurs in children with environmentally-induced (“teratogenic”) syndromes such as Fetal Alcohol Syndrome and Fetal Hydantoin Syndrome. It is extremely important that an infant born with Pierre Robin Sequence be evaluated by a geneticist, who will thoroughly investigate the possibility of an associated syndrome.
Outlook (Prognosis) for Pierre Robin Sequence (PRS)
Choking and feeding problems may go away on their own over the first few years as the lower jaw grows to a more normal size or if it is corrected with distraction surgery, depending on the severity of the case.
There is a significant risk of problems if the airways are not protected against blockage and if the problem is not addressed early on. Some possible problems include continued breathing difficulties, especially when the child sleeps (sleep apnea); choking episodes; congestive heart failure; feeding difficulties; low blood oxygen and brain damage (due to difficulty breathing); pulmonary hypertension.
As a child with Pierre Robin syndrome grows, the growth of his/her jaws need to be monitored. Appropriate treatments may be recommended at different stages of growth, including speech therapy, orthodontics and more surgeries. Treatment may be needed for overcrowding of the teeth in the lower jaw (mandible), expansion of the palate, and alignment of the upper and lower jaws. Her orthodontic treatment is closely coordinated with any potential jaw surgery (orthognathic surgery).
The Craniofacial Team of Texas is based on a multidisciplinary, collaborative care team that includes craniofacial surgeons, an orthodontist, a pediatrician, speech therapists, nurse coordinators, physician assistants, nurse practitioners, and social workers with extensive experience with Pierre Robin syndrome. We work closely and in coordination with our specialized colleagues in otolaryngology (ear, nose, and throat), gastroenterologists, pulmonary and sleep specialists as well as your child’s primary care provider.
Alternative Names
Pierre Robin complex; Pierre Robin anomaly, Pierre Robin Syndrome, or Pierre Robin Malformation.
Support Groups
For support and information, see Pierre Robin Network and Cleft Palate Foundation.
If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.
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