Oculocerebrocutaneous Syndrome

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Oculocerebrocutaneous Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Oculocerebrocutaneous (OCC) syndrome (OMIM 164180), 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 patients, the eye on the affected side or sides is also abnormally small (microphthalmos). Brain abnormalities associated with OCC syndrome may include enlargement of the ventricular system, multiple fluid-filled spaces within and malformations of the outer region of the cerebral hemispheres (cerebral cortex), absence of the band of nerve fibers that joins the brain's hemispheres (agenesis of the corpus callosum), and a typical malformation of mid- and hindbrain. Affected infants and children often have intellectual disability 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).

Supporting Organizations

Epilepsy Foundation

8301 Professional Place
Landover, MD 20785-7223
Tel: (866)330-2718
Fax: (877)687-4878
Tel: (800)332-1000
Email: ContactUs@efa.org
Website: http://www.epilepsyfoundation.org

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
Website: http://rarediseases.info.nih.gov/GARD/

International Children's Anophthalmia Network (ICAN)

c/o Center for Devel Medicine & Genetics
5501 Old York Road
Philadelphia, PA 19141
USA
Tel: (215)456-8722
Fax: (215)456-2356
Tel: (800)580-4226
Email: ican@anophthalmia.org
Website: http://www.anophthalmia.org

Micro & Anophthalmic Children's Society

PO Box 92
Holyhead
North Wales, LL65 9AW
United Kingdom
Tel: 8706006227
Email: enquiries@macs.org.uk
Website: http://www.macs.org.uk/

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
Website: http://www.nodcc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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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.

Last Updated:  8/1/2016
Copyright  2016 National Organization for Rare Disorders, Inc.