Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial skin tags.[1]
oculocerebrocutaneous, syndrome, condition, characterized, orbital, cysts, microphthalmia, porencephaly, agenesis, corpus, callosum, facial, skin, tags, other, namesdelleman, oorthuys, syndrome, contents, presentation, genetics, diagnosis, differential, diagno. Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts microphthalmia porencephaly agenesis of the corpus callosum and facial skin tags 1 Oculocerebrocutaneous syndromeOther namesDelleman Oorthuys syndrome 1 Contents 1 Presentation 2 Genetics 3 Diagnosis 3 1 Differential diagnosis 4 Epidemiology 5 See also 6 References 7 External linksPresentation editThe 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 collectionsGenetics editWhile the disorder is not fully understood it is suspected that the gene s responsible may lie on the X chromosome Diagnosis editDifferential diagnosis edit Aicardi syndrome Encephalocraniocutaneous lipomatosis Focal dermal hypoplasia Oculo auriculo vertebral spectrumEpidemiology editThis rare condition appears in males more frequently and had only 26 cases diagnosed in total by 2005 See also editOcular rosacea List of cutaneous conditionsReferences edit a b Rapini Ronald P Bolognia Jean L Jorizzo Joseph L 2007 Dermatology 2 Volume Set St Louis Mosby ISBN 978 1 4160 2999 1 External links editThis Genodermatoses article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Oculocerebrocutaneous syndrome amp oldid 1211520749, wikipedia, wiki, book, books, library,
