Pierre Robin sequence

Definition

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.

Alternative Names

Pierre Robin syndrome; Pierre Robin complex; Pierre Robin anomaly

Causes

The exact causes of Pierre Robin sequence are unknown. It may be part of many genetic syndromes.

The lower jaw develops slowly before birth, but may grow faster during the first few years of life.

Symptoms

Symptoms of this condition include:

Exams and Tests

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.

Treatment

Talk to your child's doctor about safe sleeping positions. Some infants with Pierre-Robin sequence need to sleep on their stomachs instead of their back to prevent their tongue from falling back into their airway.

In moderate cases, the child will need to have a tube placed through the nose and into the airway 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.

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.

Support Groups

More information and support for people with Pierre Robin sequence and their families can be found at:

Outlook (Prognosis)

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.

Possible Complications

These complications can occur:

When to Contact a Medical Professional

Babies born with this condition are often diagnosed at birth.

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).

Also call if your child has other breathing problems.

Prevention

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

References

Dhar V. Syndromes with oral manifestations. In: Kliegman RM, Stanton BF, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 337.

Purnell CA, Gosain AK. Pierre Robin sequence. In: Rodriguez ED, Losee JE, Neligan PC, eds. Plastic Surgery: Volume Three: Craniofacial, Head and Neck Surgery and Pediatric Plastic Surgery. 4th ed. Philadelphia, PA: Elsevier; 2018:chap 36.


Review Date: 11/1/2021
Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
© 1997- adam.comAll rights reserved.