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)
