Pierre-Robin Syndrome (Robin sequence)

What is Pierre-Robin Syndrome?
Statistics on Pierre-Robin Syndrome
Risk Factors for Pierre-Robin Syndrome
How is Pierre-Robin Syndrome Diagnosed?
Prognosis of Pierre-Robin Syndrome
How is Pierre-Robin Syndrome Treated?
Pierre-Robin Syndrome References

What is Pierre-Robin Syndrome?

Pierre Robin Syndrome is characterized by a combination of three features, possibly due to the underdevelopment of the lower jaw. The lower jaw is abnormally small (micrognathia), the tongue is displaced downwards (glossoptosis), and there is an abnormal opening in the roof of the mouth (cleft soft palate).

Statistics on Pierre-Robin Syndrome

This heterogeneous birth defect has a prevalence of approximately 1 per 8500 live births. The male-to-female ratio is 1:1, except in an X-linked form.

Risk Factors for Pierre-Robin Syndrome

The specific causes of Pierre Robin syndrome are unknown; it can be part of many genetic syndromes that may co-exist.

How is Pierre-Robin Syndrome Diagnosed?

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.

Prognosis of Pierre-Robin Syndrome

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.

How is Pierre-Robin Syndrome Treated?

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 (an operative procedure that creates a surgical airway in the cervical trachea) is sometimes required.

Pierre-Robin Syndrome References

[1] Bath AP, Bull PD: Management of upper airway obstruction in Pierre Robin sequence. J Laryngol Otol 1997 Dec; 111(12): 1155-7[2] eMEDICINE[3] Marques IL, Barbieri MA, Bettiol H: Etiopathogenesis of isolated Robin sequence. Cleft Palate Craniofac J 1998 Nov; 35(6): 517-25