Bannayan-Riley-Ruvalcaba syndrome
ORPHA:109· ICD-10 Q87.8
Definition
A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal