microphthalmia, syndromic, type 11

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microphthalmia, syndromic, type 11

An extremely rare condition (OMIM:614402) characterised by microphthalmia, small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations and absence of the pineal gland.
 
Molecular pathology
Caused by defects of VAX1, which encodes a homeo-domain transcription factor required for axon guidance and major tract formation in the developing forebrain, neuroretina, pigmented epithelium and optic stalk.