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Pseudo-TORCH syndrome type 1

ORPHA:1229· ICD-10 Q87.8

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.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal recessive
Age of onset
Antenatal, Neonatal