Pierre Robin sequence: MedlinePlus Medical Encyclopedia

P Pierre Robin sequence (or syndrome) is a condition in which an infant has a smaller than normal lower jaw, a tongue that falls back in the throat, and difficulty breathing. It is present at birth.

T Causes
P The exact causes of Pierre Robin sequence are unknown. It may be part of many genetic syndromes.
P The lower jaw develops slowly before birth, but may grow faster during the first few years of life.

T Symptoms
P Symptoms of this condition include:
- Cleft soft palate
- High-arched palate
- Jaw that is very small with a small 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 liquids coming back out through the nose
- Teeth that appear when the baby is born
- Tongue that is large compared to the jaw

T Exams and Tests
P A health care provider can often diagnose this condition during a physical exam. Consulting with a genetic specialist can rule out other problems linked to this syndrome.

T Treatment
P Do NOT put infants with this condition on their back. This is to prevent their tongue from falling back into their airway.
P In moderate cases, the child will need to have a tube placed through their nose and into their airways to avoid airway blockage. In severe cases, surgery is needed to prevent a blockage in the upper airway. Some children need surgery to make a hole in their airway or to move their jaw forward.
P 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 to prevent choking.

T Support Groups
P For support and information, the following organizations may be helpful:
- The Pierre Robin Network
- The Cleft Palate Foundation -- www.cleftline.org.

T Outlook (Prognosis)
P 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. There is a high risk for problems if the child's airways are not kept from getting blocked.

T Possible Complications
P These complications can occur:
- Breathing difficulties, especially when the child sleeps
- Choking episodes
- Congestive heart failure
- Death
- Feeding difficulties
- Low blood oxygen and brain damage (due to difficulty breathing)
- Type of high blood pressure called pulmonary hypertension

T When to Contact a Medical Professional
P Babies born with this condition are often diagnosed at birth.
P Call your provider if your child has choking episodes or breathing problems. A blockage of the airways may cause a high-pitched noise when the child breathes in. It can also lead to blueness of the skin (cyanosis).
P Also call if your child has other breathing problems.

T Prevention
P There is no known prevention. Treatment may reduce breathing problems and choking.

T Alternative Names
P Pierre Robin syndrome; Pierre Robin complex; Pierre Robin anomaly

T Images
- Infant hard and soft palates

T References
P Tinanoff N. Syndromes with oral manifestations. In: Kliegman RM, Stanton BF, St Geme JW III, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 311.

T Review Date 10/27/2015
P Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

