Orphanet: XK aprosencephaly syndrome
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XK aprosencephaly syndrome

Disease definition

XK aprosencephaly syndrome 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.

ORPHA:3469

Classification level: Disorder
  • Synonym(s):
    • Garcia-Lurie syndrome
    • XK syndrome
    • XK-aprosencephaly
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 207770
  • UMLS: C0431348  C0795952
  • MeSH: C536767
  • GARD: 424
  • MedDRA: -
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