Main clinical features
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complex brain malformation resulting from incomplete cleavage of the prosencephalon
expression is variable, ranging from a small brain with a single cerebral ventricle and cyclopia to clinically unaffected carriers in familial cases
developmental delay and feeding difficulties, epilepsy, instability of temperature, heart rate and respiration
facial anomalies, like cyclopia, proboscis, median or bilateral cleft lip/palate in severe forms, ocular hypotelorism or solitary median maxillary central incisor in minor forms |