Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Oculocerebrocutaneous Syndrome


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

Disorder Subdivisions



    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).
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    Organizations related to Oculocerebrocutaneous Syndrome
    • Agenesis of the Corpus Callosum (ACC) Network
      5749 Merrill Hall
      Orono ME 04469-5749
      Phone #: 207-581-3119
      800 #: --
      e-mail: um-acc@maine.edu
      Home page: N/A
    • Anophthalmia/Microphthalmia Registry
      C/O Genetics
      Philadelphia PA 19141
      Phone #: 215-456-8722
      800 #: --
      e-mail: schneida@einstein.edu
      Home page: http://www.angelfire.com/mi/microphthalmia/icanqa.html
    • Epilepsy Foundation
      4351 Garden City Drive
      Landover MD 20785
      Phone #: 301-459-3700
      800 #: 800-332-1000
      e-mail: postmaster@efa.org
      Home page: http://www.epilepsyfoundation.org
    • International Children's Anophthalmia Network (ican)
      5501 Old York Road
      Philadelphia PA 19141
      Phone #: 215-456-8722
      800 #: 800-580-4226
      e-mail: bardakjiant@einstein.edu
      Home page: http://www.anophthalmia.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • Micro & Anophthalmic Children's Society
      22 Lower Park Street
      North Wales None L65 1DU
      Phone #: 087-0-6-00-6227
      800 #: --
      e-mail: enquiries@macs.org.uk
      Home page: http://www.macs.org.uk/#
    • National Institute of Neurological Disorders and Stroke (NINDS)
      31 Center Drive
      Bethesda MD 20892-2540
      Phone #: 301-496-5751
      800 #: 800-352-9424
      e-mail: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html