This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Oculocerebrocutaneous (OCC) syndrome is a rare genetic disorder characterized primarily by eye, skin, and brain malformations. It has been described mostly in males. 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). Diagnosis is confirmed on the basis of specific MRI findings. 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. Additional findings may include rib and vertebral anomalies and craniofacial anomalies. Developmental delay and intellectual disability may be present and can vary from mild to profound. Approximately 50% of affected individuals have seizures. The exact cause of OCC syndrome is not known. In most cases, the affected individual is the first person in the family to have the disorder. The management of OCC syndrome varies depending on the specific symptoms in a given individual but usually involves a multidisciplinary team of doctors. Most surviving patients have significant psychomotor delays (delays in acquiring the skills needed to coordinate mental and physical activities).
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