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Oculocerebrocutaneous syndrome


Other Names for this Disease
  • Delleman Oorthuys syndrome
  • Delleman syndrome
  • Delleman-Oorthuys syndrome
  • Leichtman-Wood-Rohn syndrome
  • OCC Syndrome
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Overview

Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations.It has been described mostly in males.[1][2][3] Findings in affected individuals may include orbital cysts, areas of underdeveloped (hypoplastic) or absent (aplastic) skin, and underdevelopment (hypoplasia) or absence (agenesis) of the band of nerve fibers that joins the brain's hemispheres (corpus callosum).[2][3] Diagnosis is confirmed on the basis of specific MRI findings.[1] In some affected individuals, the eye, skin, and brain findings involve only one side of the body. In these cases, the left side is involved twice as often as the right side.[2][3] Additional findings may include rib and vertebral anomalies and craniofacial anomalies.[1][2][3] Developmental delay and intellectual disability may be present and can vary from mild to profound. Approximately 50% of affected individuals have seizures.[1] The exact cause of OCC syndrome is not known.[1] In most cases, the affected individual is the first person in the family to have the disorder.[1] The management of OCC syndrome varies depending on the specific symptoms in a given individual but usually involves a multidisciplinary team of doctors.[1] Most surviving patients have significant psychomotor delays (delays in acquiring the skills needed to coordinate mental and physical activities).[1][2]
Last updated: 6/15/2015

References

  1. Moog, Ute. Oculocerebrocutaneous syndrome. Orphanet. April, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1647. Accessed 6/15/2015.
  2. Oculocerebrocutaneous syndrome. National Organization for Rare Disorders (NORD). 2003; https://rarediseases.org/rare-diseases/oculocerebrocutaneous-syndrome/. Accessed 6/15/2015.
  3. Oculocerebrocutaneous syndrome. OMIM. Feb, 2015; http://www.omim.org/entry/164180. Accessed 6/15/2015.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Oculocerebrocutaneous syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Delleman Oorthuys syndrome
  • Delleman syndrome
  • Delleman-Oorthuys syndrome
  • Leichtman-Wood-Rohn syndrome
  • OCC Syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.