XK aprosencephaly syndrome
Synonyms: Garcia-Lurie syndrome | XK syndrome | XK-aprosencephaly
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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XK aprosencephaly syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
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