$Unique_ID{BRK04109} $Pretitle{} $Title{Pierre Robin Syndrome} $Subject{Pierre Robin Syndrome Robin Syndrome Pierre Robin Anomalad Robin Anomalad Pierre Robin Sequence Robin Sequence Pierre Robin Complex Cerebro-Costo-Mandibular Syndrome Stickler Syndrome Treacher Collins Syndrome} $Volume{} $Log{} Copyright (C) 1989 National Organization for Rare Disorders, Inc. 651: Pierre Robin Syndrome ** IMPORTANT ** It is possible that the main title of the article (Pierre Robin Syndrome) is not the name you expected. Please check the SYNONYM listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Robin Syndrome Pierre Robin Anomalad Robin Anomalad Pierre Robin Sequence Robin Sequence Pierre Robin Complex Information on the following diseases can be found in the Related Disorders section of this report: Cerebro-Costo-Mandibular Syndrome Stickler Syndrome Treacher Collins Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. 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). Symptoms Pierre Robin Syndrome is characterized by an unusually small jaw (micrognathia), downward displaced tongue (glossoptosis), and cleft soft palate. The placement of the tongue may obstruct normal breathing. If Pierre Robin infants have problems breathing, they may fail to thrive, have difficulty in swallowing (dysphagia), and stop breathing temporarily. If this occurs, their skin might develop a bluish or purplish color due to a decrease of oxygen in the blood (cyanosis) which may deprive the brain of its normal oxygen supply. Pierre Robin infants may vomit and develop sleep disturbances that may persist into adulthood. Problems in breathing may lead to lung malfunction and enlargement of part of the heart (cor pulmonale), high blood pressure in the lung's arteries (pulmonary hypertension), and possibly lead to congestive heart failure. Causes The causes of Pierre Robin Syndrome are diverse since it can occur by itself or as a symptom of another disorder. Pierre Robin Syndrome appearing with no underlying disorder may be inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent, and will be genetically normal.) Pierre Robin Syndrome may also result from mechanical constraint of the fetus in the womb, e.g., the chin may be compressed in such a way as to limit its normal development. Recent research suggests that the development of Pierre Robin Syndrome may also be influenced by drugs taken by a woman during pregnancy. Affected Population Pierre Robin Syndrome affects males and females in equal numbers. Less commonly it occurs as a feature in a multiple defect disorder such as Trisomy 18 Syndrome, Stickler Syndrome, or a number of other syndromes. Related Disorders Symptoms of the following disorders can be similar to those of Pierre Robin Syndrome. Comparisons may be useful for a differential diagnosis: Stickler Syndrome is a rare genetic disorder inherited as a dominant trait. Eye defects including nearsightedness (myopia), teeth and bone abnormalities, deafness, and a flat face are characteristic of Stickler Syndrome. It is also characterized by the features of Pierre Robin Syndrome: unusually small lower jaw (micrognathia), downward placed tongue (glossoptosis), and cleft soft 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 Syndrome plus rib and chest cavity (thorax) defects. There may be 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. There may be difficulty in breathing due to a narrow airway. (For more information on this disorder, choose Treacher Collins as your search term in the Rare Disease Database.) Therapies: Standard Pierre Robin Syndrome can be detected while the fetus is still in the womb using ultrasound imaging. Infants with Pierre Robin Syndrome should be observed closely for breathing difficulties. Several methods of intervention are available to help the infant to breathe. 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. Doctors may wait to see if the palate closes by itself in a few years before deciding to surgically correct the cleft soft palate. Surgery to improve the appearance of the jaw may also be recommended. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through April 1989. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Pierre Robin Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 FACES National Association for the Craniofacially Handicapped P.O. Box 11082 Chattanooga, TN 37401 (615) 266-1632 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 1-800-535-3643 A Cleft Palate Team is a group of specialists who are primarily interested in the care of children having clefts. For information about local teams, contact: Prescription Parents (for cleft palate) P.O. Box 426 Quincy, MA 02269 (617) 479-2463 American Cleft Palate Cranial Facial Association 1218 Granview Ave. Pittsburgh, PA 15211 (412) 681-1376 (800) 24CLEFT NIH/National Institute of Child Health & Human Development (NICHHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For Genetic Information and genetic counseling referrals: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns Hopkins University Press, 1986. Pp. 1138-1139. SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed.: K.L. Jones; W.B. Saunders Company, 1988. Pp. 196-199. GLOSSOPTOSIS-APNEA SYNDROME IN INFANCY: F. Cozzi and A. Pierro; Pediatrics (May, 1985: issue 75(5)). Pp. 836-843. THE PIERRE ROBIN SYNDROME REASSESSED IN THE LIGHT OF RECENT RESEARCH: J.R. Edwards and D.R. Newall; Br J Plast Surg (July, 1985: issue 38(3)). Pp. 339-342.