polymalformative genetic syndrome with increased risk of developing cancer

ORPHA: 183422

Overview

Polymalformative genetic syndrome with increased risk of developing cancer (PGSIRC) comprises a wide range of syndromes characterized by congenital malformations with a high risk of developing tumors including up to 50 different rare diseases

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

Orphanet Code

ORPHA:183422
polymalformative genetic syndrome with increased risk of developing cancer
OrphanetORPHA:183422
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
polymalformative genetic syndrome with increased risk of developing cancer | OrphanDrug