XK aprosencephaly

XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.

Also known as: Garcia-Lurie syndrome, XK-aprosencephaly, XK aprosencephaly syndrome, XK-aprosencephaly syndrome, Xk syndrome, aprosencephaly syndrome, aprosencephaly-atelencephaly syndrome, atelencephaly

0 clinical trials for this condition and its sub-types, 0 tagged with XK aprosencephaly itself.