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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 MyD-H, the Dartmouth-Hitchcock patient portal. You must be a registered MyD-H user for the Lebanon, Manchester, or Nashua locations to access this site.

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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