Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A 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. Disease data Classification Malformation syndrome Synonyms Garcia-Lurie syndrome Atelencephaly Zespół Garcia i Lurie XK syndrome XK-aprosencephaly ORPHA code 3469 OMIM code 207770 ICD10 code Q04.3 ICD11 code LD20.3 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl