The Bannayan-Ruvalcaba-Riley Syndrome combines several previously described syndromes and is related to Cowden syndrome.
Previous syndromes combined: Bannayan syndrome, Ruvalcaba-Myhre syndrome, Riley-Smith syndrome
Inheritance: autosomal dominant
Gene affected: PTEN (MMAC1, DEP1), which is a tumor suppressor gene
(1) large in weight and height at birth but normal sized as an adult
(4) hamartomatous polyposis in the ileum and colon
(5) hemangiomas, lipomas or angiolipomas
(6) pigmented spots on the skin of the penis in males
(7) mild to severe mental retardation
(8) hypotonia with proximal muscle weakness
(9) downslanting palpebral fissures
(10) joint hyperextensibility and/or scoliosis
Complications of intestinal hamartomatous polyps:
(2) rectal prolapse and/or bleeding
(3) carcinomas of the thyroid, breast and endometrium (similar to Cowden syndrome, see previous section)
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