| A rare syndromic type of cerebral malformation with characteristics of aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (such as ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (such as hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. |
