Pierre Robin syndrome

Alternative names
Robin sequence

Definition

Pierre Robin syndrome (also called Pierre Robin complex or sequence) is a condition present at birth that is characterized by a very small lower jaw (micrognathia). The tongue tends to fall back and downward (glossoptosis) and there is cleft soft palate.

Causes, incidence, and risk factors
The specific causes of Pierre Robin syndrome are unknown. It can be part of many genetic syndromes. The lower jaw develops slowly over the first few months of fetal life but catches up over the first year after birth. Posterior placement of the tongue may cause choking episodes, feeding difficulty and breathing difficulties, especially while asleep.

Symptoms

     
  • very small jaw with marked receding chin  
  • tongue appears large (is actually normal size but big relative to jaw) and is placed unusually far back in the oropharynx  
  • high arched palate  
  • cleft soft palate  
  • choking on tongue (a small opening in the roof of the mouth)  
  • natal teeth

Signs and tests
A physical examination is usually sufficient for your health care provider to diagnose this condition. A genetics consultation can rule out other associated anomalies and syndromes.

Treatment

Infants must be kept prone (face down), which allows gravity to pull the tongue forward and keep the airway open. These problems abate over the first few years as the lower jaw grows and assumes a more normal size.

In moderate cases, the patient requires placement of a nasopharyngeal airway (a tube placed through the nose and into the airway) to avoid airway blockage. In severe cases, surgery is indicated for recurrent upper airway obstruction. A tracheostomy is sometimes required.

Feeding must be done very carefully to avoid choking and aspiration of liquids into the airways.

Support Groups

For support and information, see http://www.pierrerobin.org and http://www.cleftline.org.

Expectations (prognosis)
Choking and feeding problems may go away spontaneously as the jaw grows. There is a significant risk of problems if the airway is not protected against obstruction.

Complications

Calling your health care provider
This condition is often apparent at birth. Call if Choking episodes or breathing problems increase in frequency. Airway blockage may be indicated by a high-pitched, crowing noise when inhaling (stridor) or blueness of the skin (cyanosis). Also call if other breathing problems occur.

Prevention
Prevention of the syndrome is unknown. Treatment may reduce the number of episodes of breathing problems and Choking.

Johns Hopkins patient information

Last revised: December 4, 2012
by Amalia K. Gagarina, M.S., R.D.

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