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


Chromosome: 10q23.3


Gene affected: PTEN (MMAC1, DEP1), which is a tumor suppressor gene


Clinical features:

(1) large in weight and height at birth but normal sized as an adult

(2) macrocephaly

(3) fibromatosis

(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:

(1) intussusception

(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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