Congenital intrauterine infection-like syndrome
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
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Congenital intrauterine infection-like syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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