Congenital intrauterine infection-like syndrome

Orpha code: 1229OMIM code: 251290

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.

Disease data
Classification

Malformation syndrome

Synonyms
BLC-PMG
BLC-PMG
Małogłowie - zwapnienia wewnątrzczaszkowe - niepełnosprawność intelektualna
Obustronne zwapnienia z polimikrogyrią
Zespół Baraitsera i Reardon
Zespół Baraitsera, Bretta i Piesowicza
Zespół pseudo-TORCH
Baraitser-Brett-Piesowicz syndrome
Baraitser-Reardon syndrome
Bilateral band-like calcification with polymicrogyria
Microcephaly-intracranial calcification-intellectual disability syndrome
Pseudo-TORCH syndrome
ORPHA code
1229
OMIM code
251290
ICD10 code
Q87.8
ICD11 code
LD20.2

No additional description.

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