A health care provider can usually diagnose this condition during a physical exam. Consulting with a genetics specialist can rule out other problems linked to this syndrome.
Infants with this condition should NOT be put on their back, to prevent the tongue from falling back into the airway.
In moderate cases, the patient will need to have a tube placed through the nose and into the airways to avoid airway blockage. In severe cases, surgery is needed to prevent a blockage in the upper airway. Some patients need surgery to make a hole in the windpipe (tracheostomy).
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.
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 significant risk of problems if the airways are not protected against blockage.
Breathing difficulties, especially when the child sleeps
Congestive heart failure
Low blood oxygen and brain damage (due to difficulty breathing)
Calling your health care provider
This condition is often seen at birth.
Call your health care provider if your child has choking episodes or breathing problems. A blockage of the airways may cause a high-pitched crowing 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.
There is no known prevention. Treatment may reduce the episodes of breathing problems and choking.
Breugem CC, Mink van der Molen AB. What is 'Pierre Robin sequence?' J Plastic Reconstruct Aesthetic Surg. 2009;62:1555-1558.
Syndromes with oral manifestations. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 308.
Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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