Congenital intrauterine infection-like syndrome

What is Congenital intrauterine infection-like syndrome?

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.

Other condition names

  • BLC-PMG
  • Baraitser-Brett-Piesowicz syndrome
  • Baraitser-Reardon syndrome
  • Bilateral band-like calcification with polymicrogyria
  • Microcephaly-intracranial calcification-intellectual disability syndrome
  • Pseudo-TORCH syndrome

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Antenatal
  • Neonatal
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