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Congenital intrauterine infection-like syndrome

Disease definition

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

ORPHA:1229

  • Synonym(s):
    • BLC-PMG
    • Baraitser-Brett-Piesowicz syndrome
    • Baraitser-Reardon syndrome
    • Bilateral band-like calcification with polymicrogyria
    • Microcephaly-intracranial calcification-intellectual disability syndrome
    • Pseudo-TORCH syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.8
  • OMIM: 251290
  • UMLS: C2931662  C3489725
  • MeSH: -
  • GARD: 12426  815
  • MedDRA: -

Additional information

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