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Definition

Pierre Robin syndrome 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

Robin sequence; Pierre Robin complex; Pierre Robin anomaly

Causes, incidence, and risk factors

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 speeds up during the first year of life.

Symptoms
  • Cleft soft palate
  • High-arched palate
  • Jaw that is very small with receding chin
  • Jaw placed unusually far back in the throat
  • Large-appearing tongue compared to jaw
  • Natal teeth(teeth appearing when the baby is born)
  • Recurrent ear infections
  • Small opening in the roof of the mouth, which causes choking
Signs and tests

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.

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 occasionally to prevent choking.

Support Groups

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

Expectations (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.

ComplicationsCalling your health care provider

This condition is often seen at birth.

Call your health care provider if choking episodes or breathing problems occur more often. 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 other breathing problems occur.

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. 2008 Oct 31 [Epub ahead of print].

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.

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