brain disorder XK aprosencephaly https://rarediseases.info.nih.gov/diseases/424/xk-aprosencephaly https://www.malacards.org/card/aprosencephaly_syndrome XK aprosencephaly syndrome XK-aprosencephaly UMLS:C0795952 Orphanet:3469 MESH:C536767 SCTID:277921008 MEDGEN:167087 Xk syndrome MONDO:0008811 atelencephaly aprosencephaly syndrome 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. GARD:0000424 XK-aprosencephaly syndrome aprosencephaly-atelencephaly syndrome icd11.foundation:1805259428 OMIM:207770 Garcia-Lurie syndrome