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    Oculocerebrocutaneous Syndrome

    Important
    It is possible that the main title of the report Oculocerebrocutaneous 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

    • Delleman Syndrome
    • Delleman-Oorthuys Syndrome
    • Orbital Cyst with Cerebral and Focal Dermal Malformations
    • OCC Syndrome
    • OCCS

    Disorder Subdivisions

    • None

    General Discussion

    Oculocerebrocutaneous (OCC) syndrome, a rare genetic disorder, is apparent at birth (congenital). The disorder is characterized primarily by eye (ocular), brain (e.g., cerebral), and skin (cutaneous) malformations. For example, many affected infants have semisolid or fluid-filled swellings (cysts) within the cavities of the skull (orbits) that accommodate the eyeballs and associated structures. In most cases, the eye on the affected side or sides is also abnormally small (microphthalmos). Brain abnormalities associated with OCC syndrome may include malformations of the ventricular system in the middle of the brain, multiple fluid-filled spaces within the outer region of the cerebral hemispheres (cerebral cortex), and absence of the band of nerve fibers that joins the brain's hemispheres (agenesis of the corpus callosum). Affected infants and children may also have mental retardation and episodes of uncontrolled electrical activity in the brain (seizures). In addition, OCC syndrome is characterized by underdevelopment or absence of skin in certain localized regions (focal dermal hypoplasia or aplasia) and most have protruding, flesh-colored or brownish outgrowths of skin (cutaneous tags) within certain facial areas, including around the eyelids, on the cheeks, or near the ears. In all individuals with OCC syndrome, the disorder appears to occur randomly for unknown reasons (isolated, with no family history of similar disorders).

    Resources

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Tel: (888)663-4637
    Email: Askus@marchofdimes.com
    Internet: http://www.marchofdimes.com

    International Children's Anophthalmia Network (ICAN)
    c/o Center for Devel Medicine & Genetics
    5501 Old York Road
    Genetics Levy 2 West
    Philadelphia, PA 19141
    USA
    Tel: (215)456-8722
    Fax: (215)456-2356
    Tel: (800)580-4226
    Email: ican@anophthalmia.org
    Internet: http://www.anophthalmia.org

    Epilepsy Foundation
    8301 Professional Place
    Landover, MD 20785-7223
    Tel: (866)330-2718
    Fax: (877)687-4878
    Tel: (800)332-1000
    TDD: (800)332-2070
    Email: ContactUs@efa.org
    Internet: http://www.epilepsyfoundation.org

    NIH/National Institute of Neurological Disorders and Stroke
    P.O. Box 5801
    Bethesda, MD 20824
    Tel: (301)496-5751
    Fax: (301)402-2186
    Tel: (800)352-9424
    TDD: (301)468-5981
    Internet: http://www.ninds.nih.gov/

    Anophthalmia/Microphthalmia Registry
    Albert Einstein Medical Center
    5501 Old York Rd
    Genetics Levy 2 West
    Philadelphia, PA 19141
    Tel: (215)456-8722
    Fax: (215)456-2356
    Email: bardakjiant@einstein.edu
    Internet: http://www.einstein.edu/yourhealth/genetic/article15698.html

    Micro & Anophthalmic Children's Society
    PO Box 92
    Holyhead
    North Wales, LL65 9AW
    United Kingdom
    Tel: 08706006227
    Email: enquiries@macs.org.uk
    Internet: http://www.macs.org.uk/

    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/

    National Organization for Disorders of the Corpus Callosum
    PMB 363
    18032-C Lemon Drive
    Yorba Linda, CA 92886
    Tel: (714)747-0063
    Fax: (714)693-0808
    Email: info@nodcc.org
    Internet: http://www.nodcc.org

    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: 4/21/2008
    Copyright 1994, 2000, 2003 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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