Oculocerebrocutaneous Syndrome

National Organization for Rare Disorders, Inc.

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.

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