Delleman syndrome

Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags. Presentation These 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 This is not understood but it is suspected that the gene(s) responsible may lie on the X chromosome. [Source: Wikipedia ]