Oculocerebrocutaneous syndrome
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.Presentation
These include
This is not understood but it is suspected that the gene responsible may lie on the X chromosome.Diagnosis
This is a rare condition with only 26 cases diagnosed by 2005.
There is a marked male preponderance.
