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Pierre Robin syndrome


Definition:

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

Alternative Names:

Pierre Robin sequence; Pierre Robin complex; Pierre Robin anomaly

Causes:

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

The lower jaw develops slowly before birth, but may speed up during the first year of life.

Symptoms:
  • Cleft soft palate
  • High-arched palate
  • Jaw that is very small with small (receding) 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 regurgitation of liquids through the nose
  • Teeth that appear when the baby is born (natal teeth)
  • Tongue that is large compared to the jaw
Exams and Tests:

A health care provider can usually diagnose this condition during a physical exam. Consulting with a genetic specialist can rule out other problems linked to this syndrome.

Treatment:

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.

Support Groups:

For support and information, see www.pierrerobin.org and www.cleftline.org.

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 significant risk of problems if the airways are not protected against blockage.

Possible Complications:
  • 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)
  • Pulmonary hypertension
When to Contact a Medical Professional:

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 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 the episodes of breathing problems and choking.

References:

Breugem CC, Mink van der Molen AB. What is 'Pierre Robin sequence?' J Plastic Reconstruct Aesthetic Surg. 2009;62:1555-1558.

Tinanoff N. Syndromes with oral manifestations. In: Kliegman RM, Stanton BF, St. Geme III JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 303.


Review Date: 10/29/2013
Reviewed By: Chad Haldeman-Englert, MD, FACMG, 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, Bethanne Black, 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 physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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