Pierre Robin syndrome

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**Pierre Robin syndrome**
*Classification & external resources*
OMIM	261800
DiseasesDB	29413
MedlinePlus	001607
eMedicine	ped/2680 ent/150
MeSH	D010855

Pierre Robin syndrome (PRS) is a congenital sequence of abnormalities in humans that may occur either as a distinct syndrome or as part of another underlying disorder.

PRS is characterized by an unusually small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), and incomplete closure of the roof of the mouth (cleft palate), usually of U-shaped type.

PRS is often part of an underlying disorder or syndrome. The most common is Stickler Syndrome. Other disorders causing PRS, according to Dr. Robert J. Sphrintzen Ph.D. of the Center for Craniofacial Disorders Montefiore Medical Center are Velocardiofacial syndrome, Fetal Alcohol Syndrome and Treacher Collins Syndrome. For more disorders associated with PRS see Dr. Sphrintzen's article entitled The Implications of the Diagnosis of Robin Sequence.

The syndrome is generally diagnosed shortly after birth. It has an incidence ranging from 1 in 8500 to 1 in 30,000. The most important medical problems are difficulties in breathing and feeding. Affected infants very often need assistance with feeding, for example needing to stay in a lateral position, needing specially adapted teats or spoons to feed, and often needing nasogastric feeding or supplemental feeding for periods due to slow feeding. This is related to the difficulty in forming a vacuum in the oral cavity related to the cleft palate, as well as to breathing difficulty related to the posterior position of the tongue. Infants, when moderately to severely affected, may occasionally need nasopharyngeal cannulation or more rarely endotracheal intubation or tracheostomy to overcome upper respiratory obstruction.

The cleft palate is generally repaired between the ages of 6 1/2 months and 2 years by a plastic or maxillofacial surgeon. In many centres there is now a cleft lip and palate team comprising both of these specialties, as well as a coordinator, a speech and language therapist, an orthodontist, sometimes a psychologist or other mental health specialist, an audiologist, an otorhinolaryngologist (ENT surgeon) and nursing staff. The glossoptosis and micrognathism generally do not require surgery, as they improve to some extent unaided, though the mandibular arch remains significantly smaller than average. In some cases jaw distraction is needed to aid in breathing and feeding. Lip-tongue attachment is performed in some centres, though its efficacy has been recently questioned.

Children affected with PRS usually reach full development and size. However, it has been found internationally that the child is often slightly below average size, raising concerns of incomplete development due to chronic hypoxia related to upper airway obstruction as well as lack of nutrition due to early feeding difficulties.