XK aprosencephaly syndrome

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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 December 2023

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XK aprosencephaly syndrome?

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