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    Cerebrocostomandibular Syndrome

    Important
    It is possible that the main title of the report Cerebrocostomandibular Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

    Synonyms

    • CCM Syndrome
    • CCMS
    • Rib Gap Defects with Micrognathia

    Disorder Subdivisions

    • None

    General Discussion

    Cerebrocostomandibular syndrome is an extremely rare inherited disorder characterized by an abnormally small jaw (micrognathia), malformations of the roof of the mouth (palate), improper positioning of the tongue (glossoptosis), and abnormal development of the ribs (rib dysplasia). In most cases, such abnormalities contribute to respiratory problems (insufficiency) during early infancy. Although some affected individuals have normal intelligence, others exhibit moderate to severe mental retardation. Although research suggests that cerebrocostomandibular syndrome is usually inherited as an autosomal recessive genetic trait, some cases have also been documented in the medical literature that suggest autosomal dominant inheritance.

    Resources

    The Arc
    1825 K Street NW, Suite 1200
    Washington, DC 20006
    Tel: (202)534-3700
    Fax: (202)534-3731
    Tel: (800)433-5255
    TDD: (817)277-0553
    Email: info@thearc.org
    Internet: http://www.thearc.org

    American Speech-Language-Hearing Association
    2200 Research Boulevard
    Rockville, MD 20850-3289
    United States
    Tel: (301)296-5700
    Fax: (301)296-8580
    Tel: (800)638-8255
    Email: actioncenter@asha.org
    Internet: http://www.asha.org

    Cleft Palate Foundation
    1504 East Franklin Street
    Suite 102
    Chapel Hill, NC 27514-2820
    USA
    Tel: (919)933-9044
    Fax: (919)933-9604
    Tel: (800)242-5338
    Email: info@cleftline.org
    Internet: http://www.cleftline.org

    Prescription Parents
    22 Ingersoll Road
    P.O. Box 920554
    Wellesley, MA 02181
    USA
    Tel: (617)499-1936
    Email: info@prescriptionparents.org
    Internet: http://www.prescriptionparents.org

    NIH/National Heart, Lung and Blood Institute
    P.O. Box 30105
    Bethesda, MD 20892-0105
    Tel: (301)592-8573
    Fax: (301)251-1223
    Email: nhlbiinfo@rover.nhlbi.nih.gov
    Internet: http://www.nhlbi.nih.gov/

    NIH/National Institute on Deafness and Other Communication Disorders
    31 Center Drive, MSC 2320
    Communication Avenue
    Bethesda, MD 20892-3456
    Tel: (301)402-0900
    Fax: (301)907-8830
    Tel: (800)241-1044
    TDD: (800)241-1105
    Email: nidcdinfo@nidcd.nih.gov
    Internet: http://www.nidcd.nih.gov

    Wide Smiles
    P.O. Box 5153
    Stockton, CA 95205-0153
    USA
    Tel: (209)942-2812
    Fax: (209)464-1497
    Email: josmiles@yahoo.com
    Internet: http://www.widesmiles2.org/

    Genetic and Rare Diseases (GARD) Information Center
    PO Box 8126
    Gaithersburg, MD 20898-8126
    Tel: (301)251-4925
    Fax: (301)251-4911
    Tel: (888)205-2311
    TDD: (888)205-3223
    Internet: http://rarediseases.info.nih.gov/GARD/

    For a Complete Report:

    This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

    The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

    It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

    This disease entry is based upon medical information available through the date at the end of the topic. 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.

    For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

    Last Updated: 4/25/2008
    Copyright 1988, 1989, 1997, 1998, 2005 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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