$Unique_ID{BRK03582} $Pretitle{} $Title{Cerebro-Costo-Mandibular Syndrome} $Subject{Cerebro-Costo-Mandibular Syndrome Cerebrocostomandibular Syndrome CCM Syndrome CCMS Micrognathia Pierre Robin Syndrome (Robin Syndrome) Rib Gap Defects with Micrognathia} $Volume{} $Log{} Copyright (C) 1988, 1989 National Organization for Rare Disorders, Inc. 508: Cerebro-Costo-Mandibular Syndrome ** IMPORTANT ** It is possible the main title of the article (Cerebro-Costo-Mandibular Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names and disorder subdivisions covered by this article. Synonyms Cerebrocostomandibular Syndrome CCM Syndrome CCMS Rib Gap Defects with Micrognathia Information on the following conditions may be found in the Related Disorders section of this report: Micrognathia Pierre Robin Syndrome (Robin 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. Cerebro-Costo-Mandibular Syndrome is a rare genetic disorder characterized by an unusually small jaw (micrognathia), abnormalities of the palate and multiple rib defects. Sometimes mild to moderate mental retardation may occur as a result of respiratory distress during infancy. Symptoms Cerebro-Costo-Mandibular Syndrome is characterized by an abnormally small jaw (micrognathia), downward displacement or retraction of the tongue (glossoptosis), abnormalities of the palate usually manifested as a cleft soft palate, and multiple rib defects particularly in the 4th and 5th pairs. Sometimes mild to moderate mental deficiency may occur which can be caused by respiratory distress during infancy. Numerous associated features involving the bones, kidneys, heart, windpipe (trachea), and hearing have also been reported in the medical literature. Increased susceptibility to respiratory infections may be life threatening in some cases. Establishing adequate nipple feeding is often difficult and may lead to failure to thrive. Rare cases of hearing loss due to a defect of the middle ear with delayed speech development can be associated with this disorder. Recurrent pneumonia and middle ear infection (otitis media) often occur. Rib fractures and rib gap defects (pseudoarthosis) usually tend to improve with age. Causes Cerebrocostomandibular Syndrome is a genetic disorder transmitted through autosomal recessive inheritance. Manifestations of the disorder may not be present in all who inherit the disease (variable penetrance). Respiratory distress immediately after birth should be guarded against. (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 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.) Variable penetrance means that characteristics or symptoms of a particular disorder may not be manifested in all those who inherit the defective genes.) Affected Population Cerebro-Costo-Mandibular Syndrome is a very rare disorder present at birth. Persons of European descent are primarily affected. Males and females tend to be affected in equal numbers. Related Disorders: The following conditions may be similar to symptoms of Cerebro-Costo- Mandibular Syndrome. Comparisons may be useful for a differential diagnosis: Micrognathia is characterized by an unusually small jaw. Pierre Robin Syndrome (Pierre Robin Anomaly; Robin Syndrome; Cleft Palate, Micrognathia and Glossoptosis; Micrognathia and Glossoptosis Syndrome). This syndrome is part of Cerebro-Costo-Mandibular Syndrome. This syndrome is characterized by an abnormally small jaw (micrognathia), downward displacement of the tongue, and a cleft palate. It is a genetic disorder probably inherited through autosomal recessive genes. (For more information on this disorder, choose "Pierre Robin" as your search term in the Rare Disease Database.) Therapies: Standard Intensive medical care for respiratory distress, feeding difficulty and respiratory infections is necessary for infants with Cerebro-Costo-Mandibular Syndrome. The palate can be surgically repaired. Genetic counseling is recommended for families of children with this disorder. Therapies: Investigational This disease entry is based upon medical information available through October 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 Cerebro-Costo-Mandibular Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 National Craniofacial Foundation 3100 Carlisle Street, Suite 215 Dallas, TX 75204 (1-800-535-3643 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 (800) 535-3643 Craniofacial Family Association 170 Elizabeth Street, Suite 650 Toronto, Ontario, M5G, 1X8 Canada NIH/National Institute of Child Health and Human Development (NICHD) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For genetic information and genetic counseling referrals, please contact: 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 This report in the Rare Disease Database is based on outlines prepared by medical and dental students (1984-1986) at the Medical College of Virginia for their course in human genetics. CEREBROCOSTOMANDIBULAR SYNDROME. CASE REPORT AND LITERATURE REVIEW: K.G. Smith, et al.; Clin Pediatr (Phila) (April 1985: issue 24(4)). Pp. 223-225. THE COURSE OF THE CEREBROCOSTOMANDIBULAR SYNDROME: D.J. Harris, et al.; Birth Defects (1977: issue 13(3C)). Pp. 117-130. MENDELIAN INHERITANCE IN MAN, 7TH ED.: VICTOR A. McKUSICK; Johns Hopkins University Press, 1986. P. 135.