Oculocerebrocutaneous syndrome

Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.

Presentation
The symptoms include:


 * Skin lesions
 * Hypoplastic or aplastic skin defects
 * Pedunculated, hamartomatous or nodular skin appendages
 * Eye lesions
 * Cystic microphthalmia
 * Brain lesions
 * Forebrain anomalies
 * Agenesis of the corpus callosum
 * Enlarged lateral ventricles
 * Interhemispheric cysts
 * Hydrocephalus
 * Polymicrogyria
 * Periventricular nodular heterotopia
 * Mid-hindbrain malformation
 * Giant dysplastic tectum
 * Absent cerebellar vermis
 * Small cerebellar hemispheres
 * Large posterior fossa fluid collections

Genetics
While the disorder is not fully understood, it is suspected that the gene(s) responsible may lie on the X chromosome.

Differential diagnosis

 * Aicardi syndrome
 * Encephalocraniocutaneous lipomatosis
 * Focal dermal hypoplasia
 * Oculo-auriculo-vertebral spectrum

Epidemiology
This rare condition appears in males more frequently and had only 26 cases diagnosed in total by 2005.