Pierre Robin syndrome

Jump to navigation Jump to search
Pierre Robin syndrome
OMIM 261800
DiseasesDB 29413
MedlinePlus 001607
MeSH D010855

WikiDoc Resources for Pierre Robin syndrome


Most recent articles on Pierre Robin syndrome

Most cited articles on Pierre Robin syndrome

Review articles on Pierre Robin syndrome

Articles on Pierre Robin syndrome in N Eng J Med, Lancet, BMJ


Powerpoint slides on Pierre Robin syndrome

Images of Pierre Robin syndrome

Photos of Pierre Robin syndrome

Podcasts & MP3s on Pierre Robin syndrome

Videos on Pierre Robin syndrome

Evidence Based Medicine

Cochrane Collaboration on Pierre Robin syndrome

Bandolier on Pierre Robin syndrome

TRIP on Pierre Robin syndrome

Clinical Trials

Ongoing Trials on Pierre Robin syndrome at Clinical Trials.gov

Trial results on Pierre Robin syndrome

Clinical Trials on Pierre Robin syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Pierre Robin syndrome

NICE Guidance on Pierre Robin syndrome


FDA on Pierre Robin syndrome

CDC on Pierre Robin syndrome


Books on Pierre Robin syndrome


Pierre Robin syndrome in the news

Be alerted to news on Pierre Robin syndrome

News trends on Pierre Robin syndrome


Blogs on Pierre Robin syndrome


Definitions of Pierre Robin syndrome

Patient Resources / Community

Patient resources on Pierre Robin syndrome

Discussion groups on Pierre Robin syndrome

Patient Handouts on Pierre Robin syndrome

Directions to Hospitals Treating Pierre Robin syndrome

Risk calculators and risk factors for Pierre Robin syndrome

Healthcare Provider Resources

Symptoms of Pierre Robin syndrome

Causes & Risk Factors for Pierre Robin syndrome

Diagnostic studies for Pierre Robin syndrome

Treatment of Pierre Robin syndrome

Continuing Medical Education (CME)

CME Programs on Pierre Robin syndrome


Pierre Robin syndrome en Espanol

Pierre Robin syndrome en Francais


Pierre Robin syndrome in the Marketplace

Patents on Pierre Robin syndrome

Experimental / Informatics

List of terms related to Pierre Robin syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Please Take Over This Page and Apply to be Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [2] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.


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), posterior displacement or retraction of the tongue (glossoptosis), and upper airway obstruction. Incomplete closure of the roof of the mouth (cleft palate), is present in the majority of patients, and is commonly U-shaped.

It is not known just how this abnormality occurs in infants, but one theory is that, at some time during the stage of the formation of the bones of the fetus, the tip of the jaw (mandible) becomes 'stuck' in the point where each of the collar bones (clavicle) meet (the sternum), effectively preventing the jaw bones from growing. It is thought that, at about 12 to 14 weeks gestation, when the fetus begins to move, the movement of the head causes the jaw to "pop out' of the collar bones. From this time on, the jaw of the fetus grows as it would normally, with the result that, when born, the jaw of the baby is much smaller (micrognathia) than it would have been with normal development, although it does continues to grow at a normal rate until the child reaches maturity.

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.

In nasopharyngeal cannulation, the infant is fitted with a blunt-tipped length of surgical tubing, which is inserted into the nose and down the throat, ending just above the esophagus. Surgical threads fitted through holes in the outside end of the tube are attached to the cheek with a special skin-like adhesive material called 'stomahesive', which is also wrapped around the outside end of the tube (but not over the opening at the end) to keep the tube in place. This tube or cannula, which itself acts as an airway, primarily acts as a sort of "splint" which makes further airways on either side of the tube between the tongue and the throat wall, thus assisting the infant in breathing and preventing the tongue from falling back down into the throat, which would cause the infant to asphyxiate. Nasopharyngeal cannulation should be favoured over the other treatments mentioned in this article, as it is far less invasive, it allows the infant to feed without the further placement of a nasogastric tube, and the infant can be placed in the prone position without fear of asphyxiation. This treatment may be necessary for a period of up to six months or more, until the jaw has grown enough so that the tongue assumes a more normal position in the mouth and airway (at birth, the jaws of some infants are so underdeveloped that only the tip of the tongue can be seen when viewed in the throat).

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.

External links

Pierre Robin Network

Cleft lip and palate Microchapters


Patient Information




Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis


History and Symptoms

Physical Examination



Psychosocial Issues

Primary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Pierre Robin syndrome On the Web

Most recent articles

cited articles

Review articles

CME Programs

Powerpoint slides


American Roentgen Ray Society Images of Pierre Robin syndrome

All Images
Echo & Ultrasound
CT Images

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Pierre Robin syndrome

CDC on Pierre Robin syndrome

Pierre Robin syndrome in the news

Blogs on Pierre Robin syndrome

Directions to Hospitals Treating Cleft lip and palate

Risk calculators and risk factors for Pierre Robin syndrome

it:Sindrome di Pierre Robin Template:WH Template:WS