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Pierre Robin Sequence

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Copyright 1989, 1996, 2004

Synonyms of Pierre Robin Sequence

Disorder Subdivisions

General Discussion

Pierre Robin sequence is characterized by an unusually small lower jaw (micrognathia) and downward displacement of the tongue (glossoptosis). Some infants also have an abnormal opening in the roof of the mouth (cleft palate); both the soft and hard palate can be affected.

Symptoms

The downward placement of the tongue, coupled with an unusually small jaw, may obstruct normal breathing and cause respiratory distress, feeding problems, and failure to thrive. Sleep disorders, including obstructive sleep apnea, a condition in which breathing temporarily stops, may occur.

Cardiovascular and lung conditions, such as benign heart murmurs, high blood pressure in the arteries of the lungs (pulmonary hypertension), and narrowing of the opening between the lung artery and the right ventricle of the heart (pulmonary stenosis) are possible manifestations of the disease. Anomalies of the musculoskeletal system, including those in the arms, legs, feet, and vertebral column, are also common. Inflammation of the middle ear (otitis media) occurs in about 80% of patients. Eye (ocular) defects are noted in about 10% to 30% of patients.

Causes

At present, the exact cause of Pierre Robin sequence is unknown. The most widely held view is that failure of the lower jaw to fully develop early in gestation causes the tongue to be positioned high in the oral cavity, which, in turn, prevents palate closure. The disease can occur by itself, and less commonly, as a feature in multiple defect disorders.

Pierre Robin sequence appearing with no underlying disorder may be inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, he or she will be a carrier of the disease, but usually will not show symptoms. The risk of two carrier parents both passing the defective gene and having an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance of having a child who receives normal genes from both parents and is genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than do unrelated parents of both carrying the same abnormal gene, which increases the risk of having children with a recessive genetic disorder.

Affected Populations

Pierre Robin sequence affects males and females in equal numbers, with a prevalence of about one in 8,500 births.

Related Disorders

Disease comparisons may be useful for a differential diagnosis. Symptoms of Stickler syndrome, cerebro-costo-mandibular syndrome, and Treacher Collins syndrome can be similar to those of Pierre Robin sequence.

Stickler syndrome is a rare genetic progressive connective tissue disorder that affects the eyes, ears, face, joints, and bones. Signs and symptoms may include: nearsightedness (myopia), detached retina (separation of the retina of the eye from the layers of the eyeball that support it), hearing loss, flat face with a small nose, and joint pain. It is also characterized by two features of Pierre Robin sequence: unusually small lower jaw (micrognathia) and cleft palate. (For more information on this disorder, choose "Stickler" as your search term in the Rare Disease Database.)

Cerebro-costo-mandibular syndrome is a rare genetic disorder characterized by the features of Pierre Robin sequence, plus rib and chest cavity (thorax) defects. Other disease features may include feeding, breathing, and speech difficulties. Occasionally, an unusually small head, mental retardation, abnormally placed fifth fingers, and bone abnormalities also occur. (For more information on this disorder, choose "Cerebro-Costo-Mandibular" as your search term in the Rare Disease Database.)

Treacher Collins syndrome is a rare genetic disorder characterized by deformities in the jaw and ears with deafness, cleft palate, and unusually slanted eyes. Cheekbones may be very small or partially absent. (For more information on this disorder, choose Treacher Collins as your search term in the Rare Disease Database.)

Other related syndromes and conditions include: trisomy aaq syndrome, trisomy 18 syndrome, velocardiofacial (Shprintzen) syndrome, deletion 4q syndrome, rheumatoid arthropathy, hypochondroplasia, Mobius syndrome, and CHARGE association.

Standard Therapies

Pierre Robin sequence can be detected while the fetus is still in the womb using ultrasound imaging.

Infants with Pierre Robin sequence should be observed closely for breathing difficulties. A tube may be inserted in the infant's throat (intubation) or a surgical opening may be made into the trachea through the neck (tracheostomy) to assist the infant in breathing.

Surgery to close the palate is typically performed between 12 and 18 months of age. Doctors may postpone the corrective surgery, however, to allow the opening in the palate to close on its own as natural growth occurs. If speech is impaired, a child with a cleft palate should participate in speech therapy or be monitored by a speech pathologist.

A child with a cleft palate is susceptible to fluid build-up in the ears, which can affect hearing and also lead to ear infections. Monitoring by an ear, nose and throat specialist and an audiologist is recommended for children with ear and hearing problems.

Surgery to improve the appearance of the jaw is rarely necessary because the small lower jaw seen at birth most often grows to a more normal size by 18 months of age.

Genetic counseling may be of benefit for patients and their families. Symptomatic and supportive treatment may also be useful.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government Web site.

For information about clinical trails being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Pierre Robin Sequence

References

JOURNAL ARTICLES
Wilcox BK, Tatum SA. Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence. Am J Otolaryngol. 2004 Jul-Aug;25(4)258-62.

Yao CT, Wang JN, Tai YT, Tsai TY, Wu JM. Successful management of a neonate with Pierre-Robin syndrome and severe upper airway obstruction by long-term placement of a laryngeal mask airway. Resuscitation. 2004 Apr;61(1):97-9.

Poos A. Pierre Robin Sequence. Wide Smiles Web site. Available at: http://www.widesmiles.org/cleftlinks/WS-901.html. Accessed November 11, 2004.

Tewfik TL, Trinbh N, Teebi AS. Pierre Robin Syndrome. Emedicine Web site. Available at www.emedicine.com. Accessed November 11, 2004.

FROM THE INTERNET
Stickler's syndrome. Available at Mayo Clinic Web site: http://www.mayoclinic.com/invoke.cfm?id=AN00682. Accessed November 15, 2004.

Treacher Collins syndrome. Children's Craniofacial Association Web site. Available at: http://www.ccakids.com/hplmesyndef.stm. Accessed November 15, 2004.

Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, editor; Johns Hopkins University, Last Edit Date 9/19/1002. Entry Number 261800.

Report last updated: 2008/04/12 00:00:00 GMT+0