Polymalformative genetic syndrome with increased risk of developing cancer
ORPHA:183422
Definition
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.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- All ages