Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

pseudo-TORCH syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pseudo-TORCH syndrome

MONDO:0009626

Also known as:BLC-PMGBaraitser-Brett-Piesowicz syndromeBaraitser-Reardon syndrome

Overview

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.

OnsetCONGENITAL

ResearchLimited published research (7 articles)

Diagnosis

Biomarker and diagnostic research for pseudo-TORCH syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for pseudo-TORCH syndrome.

7 publications have been identified in PubMed for pseudo-TORCH syndrome. Research spans Case Report / Case Series (57%), Review / Meta-Analysis (29%), and Diagnostic / Biomarker (14%).

Recent Publications

Sengottaian A (2026). [PMID: 41557201](https://pubmed.ncbi.nlm.nih.gov/41557201/). *Indian pediatrics*. [Case Report / Case Series]
Talea A (2025). [PMID: 40771187](https://pubmed.ncbi.nlm.nih.gov/40771187/). *Molecular syndromology*. [Review / Meta-Analysis]
Kaur N (2025). [PMID: 39470296](https://pubmed.ncbi.nlm.nih.gov/39470296/). *American journal of medical genetics. Part A*. [Diagnostic / Biomarker]
Gowda VK (2025). [PMID: 41198138](https://pubmed.ncbi.nlm.nih.gov/41198138/). *Clinical dysmorphology*. [Case Report / Case Series]
Alattas A (2025). [PMID: 40937018](https://pubmed.ncbi.nlm.nih.gov/40937018/). *Cureus*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:12 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1229

GARD

Genetic and Rare Diseases Info Center

GARD:12426

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

pseudo-TORCH syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team