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:1229
pseudo-TORCH syndrome
OrphanetORPHA:1229
Treatments0 drug(s)
Symptoms on record7 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
pseudo-TORCH syndrome | OrphanDrug