pseudo-TORCH syndrome
ORPHA: 1229
Overview
autosomal recessive disease that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, severe developmental delay, simplified gyration and polymicrogyria
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with pseudo-TORCH syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalySeizureSpasticityHyperreflexiaCerebral cortical atrophyCerebral calcificationAbnormality of movement
Classification & Codes
Orphanet Code
ORPHA:1229pseudo-TORCH syndrome
| Orphanet | ORPHA:1229 |
| Treatments | 0 drug(s) |
| Symptoms on record | 7 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO