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).
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Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

International Children's Anophthalmia Network (ican)
5501 Old York Road
Albert Einstein Medical Center, Levy 2 West
(ican) C/O Genetics
Philadelphia, PA 19141
USA
Tel: 2154568722
Fax: 2154562356
Tel: 8005804226
Email: bardakjiant@einstein.edu
Internet: http://www.anophthalmia.org

Agenesis of the Corpus Callosum (ACC) Network
5749 Merrill Hall
Room 18
University of Maine
Orono, ME 04469-5749
Tel: (207)581-3119
Fax: (207)581-3120
Email: um-acc@maine.edu

Epilepsy Foundation
4351 Garden City Drive
Landover, MD 20785
Tel: (301)459-3700
Fax: (301)577-2684
Tel: (800)332-1000
TDD: (800)332-2070
Email: postmaster@efa.org
Internet: http://www.epilepsyfoundation.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Anophthalmia/Microphthalmia Registry
C/O Genetics
Albert Einstein Medical Center, Levy 2 West
5501 Old York Rd
Philadelphia, PA 19141
Tel: (215)456-8722
Fax: (215)456-2356
Email: schneida@einstein.edu
Internet: http://www.angelfire.com/mi/microphthalmia/icanqa.html

Micro & Anophthalmic Children's Society
22 Lower Park Street
Holyhead
Isle of Anglesey
North Wales, L65 1DU
United Kingdom
Tel: 0870-600-6227
Email: enquiries@macs.org.uk
Internet: http://www.macs.org.uk/#

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

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: 4/21/2003
Copyright 1994, 2000, 2003 National Organization for Rare Disorders, Inc.

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