Orphanet: Bannayan Riley Ruvalcaba syndrome

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Bannayan-Riley-Ruvalcaba syndrome

Disease definition

A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.


Classification level: Disorder
  • Synonym(s):
    • BRRS
    • Myhre-Riley-Smith syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 158350
  • UMLS: C0265326
  • MeSH: -
  • GARD: 5887
  • MedDRA: -

Detailed information


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