You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
Synonyms of Oculocerebrocutaneous Syndrome
- Delleman-Oorthuys Syndrome
- Delleman Syndrome
- OCC Syndrome
- Orbital Cyst with Cerebral and Focal Dermal Malformations
- No subdivisions found.
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).
Organizations related to Oculocerebrocutaneous Syndrome
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1994, 2000, 2003
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.