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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.
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).
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
International Children's Anophthalmia Network (ICAN)
c/o Center for Devel Medicine & Genetics
5501 Old York Road
Genetics Levy 2 West
Philadelphia, PA 19141
8301 Professional Place
Landover, MD 20785-7223
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Albert Einstein Medical Center
5501 Old York Rd
Genetics Levy 2 West
Philadelphia, PA 19141
Micro & Anophthalmic Children's Society
PO Box 92
North Wales, LL65 9AW
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
National Organization for Disorders of the Corpus Callosum
18032-C Lemon Drive
Yorba Linda, CA 92886
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.
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Last Updated: 4/21/2008
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