What Is Pierre Robin Syndrome?

Pierre Robin syndrome (PRS), also called Pierre Robin sequence, is a congenital condition characterized by a smaller-than-normal lower jaw, a tongue that falls back in the throat and airway obstruction. In many cases, children with PRS will also have cleft palate. Because the condition is associated with difficulty breathing or stoppages in breathing, it's very important that your child's care includes an assessment of breathing.

Children with Pierre Robin syndrome may require a series of surgeries over years. The Craniofacial Program team at The Children's Hospital of Philadelphia is among the most experienced in the world in the treatment of Pierre Robin syndrome.

Transcript

What is Pierre Robin syndrome?

Jesse Taylor, MD: Pierre Robin sequence, or syndrome, is when kids are born with an abnormally small lower jaw, a larger than normal tongue for the size of the jaw, and sometimes cleft palate. About two-thirds of kids who are born with Pierre Robin sequence have a cleft palate.

The diagnosis of Pierre Robin sequence is often made based on history and physical examination. Historical features such as difficulty breathing or stopping breathing during the night can occur. The other thing that we concentrate on is the child’s ability to feed. Because if a child can’t feed, it’s hard for them to grow. And the feeding and the breathing issues can go hand and hand.

If your child has Pierre Robin Sequence, our team may decide to order a number of tests. One of the tests is a polysomnogram, or sleep study, in which we will measure the level of oxygen that your child is getting while sleeping. This also gives up some information about what the brain is doing while your child is sleeping, as well as the heart and the lungs.

Another important test to do is a microlaryngscopy and bronchoscopy, which is a test in which we stick a very small fiberoptic camera into the airway and watch your child breath. This gives us a lot of information about the anatomy of the airway, which will help direct care as we move forward.

The last test we might order is an X-ray of the head and neck, which will give us information about the anatomy of the jaw, as well as its size relative to other structures of the head and neck.

Because there is a wide variety of patients who have Pierre Robin sequence, there’s also a wide range of treatments. Most mild cases of Pierre Robin sequence can be treated with prone positioning alone. That’s when a child sleeps facing downward. By sleeping facing downward, the base of the tongue is brought forward, which will allow them to breathe more easily.

More moderate or severe cases of Pierre Robin sequence are treated with either tongue/lip adhesion, mandibular distraction, or a tracheostomy. Tongue/lip adhesion is when the undersurface of the tongue is sown to the lower lip. This brings the tongue base forward and can be applied in moderate cases of Pierre Robin sequence.

Mandibular distraction osteogenesis is a technique where we actually elongate the abnormally small jaw. But bringing the chin point forward with this technique, it drags the tongue base forward to relieve airway obstruction.

Our plastic surgery team has a tremendous amount of expertise in treating Pierre Robin sequence. We offer the full range of treatment modalities that are used throughout the United States, and the world, to treat this problem. If your child has Pierre Robin sequence, they may see a number of different specialists here at CHOP. Our team has an extensive experience with this. And in fact, we’re one of the largest volume centers in the country.

Our multi-disciplinary team of experts creates a customized treatment plan for every child. And then we reevaluate as they continue to go through childhood and grow so that at every time point we optimize their outcome.

Topics Covered: Pierre Robin Syndrome

Related Centers and Programs: Craniofacial Program, Neonatal Craniofacial Program, Division of Plastic and Reconstructive Surgery