Pierre Robin syndrome factsheet
Introduction
Pierre Robin Syndrome is a congenital condition characterised by:
- small lower underdeveoloped jaw (micrognathia)
- cleft palate (when a baby is born with an opening (a cleft) in the roof of the mouth, leaving a hole between the nose and the mouth)
- displacement of the tongue towards the back of the throat (glossoptosis).
Sometimes the condition can be so severe that a breathing tube may need to be placed to support the child’s breathing.
Signs and symptoms
Babies born with Pierre Robin syndrome commonly experience trouble breathing and feeding early on, because of the tongue’s position, smaller jaw size and the cleft palate formation.
Additional symptoms of Pierre Robin may include:
- snoring and airway obstruction due to displacement of tongue at the back of the throat
- repeated ear infections or temporary hearing loss
- natal teeth (teeth that are present at birth).
Diagnosis
Your healthcare provider can diagnose Pierre Robin syndrome with a physical examination.
Genetic testing can also help rule out other related health issues.
Treatment
If your child has Pierre Robin syndrome, you can expect treatment to come in stages.
Since the condition affects a variety of functions, including hearing, breathing and feeding, several specialists will be involved in your child’s care.
Breathing
The first priority will be to keep the upper airway open to allow for proper breathing. Laying your child on his or her stomach can help prevent the tongue from blocking off the airway.
Other treatments aimed at keeping the upper airway open may be recommended. These include a nasopharyngeal airway or nasal trumpet (a small tube threaded through the nose into the upper airway).
In cases of severe obstruction, your doctor may recommend surgery to enlarge the lower jaw (so that the tongue can come into the mouth) or a tracheotomy to create an opening in the windpipe.
Cleft palate
The timing of the cleft palate repair varies depending on the child’s individual growth and development. It is typically addressed within 1 to 2 years of age.
Cleft palate is repaired with a two- to three-hour surgical procedure and requires a one- to two-night hospital stay. During the procedure, tubes may be inserted into the ear to lessen fluid buildup.
Some children may also require speech therapy following cleft palate repair.
Management
Management of Pierre Robin Syndrome is a team-based apporach between craniofacial surgeons, intensivists, ENT surgeons and speech therapists. Some children require elongation of their jaws in the first months of life.
Parents and doctors should continue to monitor child development — particularly jaw and tooth development, growth, and speech — after treatment for conditions related to Pierre Robin syndrome.
Feeding
If your baby has been diagnosed with Pierre Robin syndrome, special care and attention must be given during feeding times to prevent liquids from going into the airway. In some cases, your healthcare provider may recommend a feeding tube to avoid choking.
While feeding difficulties decrease within the first two years, children that may need long-term assistance could require a gastric tube inserted into the abdominal wall.
Teeth problems
Since the lower jaw is smaller in children with Pierre Robin sequence, teeth crowding is frequently a concern. Orthodontists, paediatric dentists and craniofacial surgeons should work together to monitor dental development.
Resources and more information
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