Bannayan–Riley–Ruvalcaba syndrome

Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome.

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• macrocephaly
• lipomatosis
• angiolipomas
• haemangiomata
• hamartomatous intestinal polyps
• pigmented macules on the glans of the penis (speckled penis)

Musculoskeletal manifestations:

• hypotonia
• scoliosis
• pectus excavatum
• joint hyperextensibility

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