Bannayan-Riley-Ruvalcaba syndrome

Spectrum / variant of Cowden syndrome within the PTEN-related diseases / PHTS family – tends to present earlier with more prominent overgrowth + musculoskeletal features.

Core features

• Macrocephaly
• Developmental delay / hypotonia
• Multiple subcutaneous lipomas, haemangiomas
• Intestinal hamartomatous polyps

Musculoskeletal manifestations

• Hypotonia
• Scoliosis
• Pectus excavatum
• Joint hyperextensibility

Other classic clue

• Pigmented macules of the glans penis (in males)