/pseudo-TORCH syndrome

pseudo-TORCH syndrome

Rare Disease

MONDO:0009626

Also Known As

BLC-PMGBaraitser-Brett-Piesowicz syndromeBaraitser-Reardon syndromeband-like calcification with simplified gyration and polymicrogyriabilateral band-like calcification with polymicrogyriamicrocephaly-intracranial calcification-intellectual disability syndromepseudo-TORCH syndromeBLCPMGBaraitser Brett Piesowicz syndromecongenital intrauterine infection-like syndromemicrocephaly - intracranial calcification - intellectual disabilitymicrocephaly intracranial calcification

Definition

A Mendelian disease characterized 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.