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.
MONDO:0005560
brain disorder
is_a
Garcia-Lurie syndrome
exact
XK-aprosencephaly
exact
XK-aprosencephaly syndrome
related
aprosencephaly-atelencephaly syndrome
related