Congenital intrauterine infection-like syndrome

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Name:
Congenital intrauterine infection-like syndrome
Description:
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.
ORPHAcode:
1229
Synonyms:
BLC-PMG
Baraitser-Brett-Piesowicz syndrome
Baraitser-Reardon syndrome
Bilateral band-like calcification with polymicrogyria
Microcephaly-intracranial calcification-intellectual disability syndrome
Pseudo-TORCH syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14