Bannayan-riley-ruvalcaba syndrome Q87.0

Autosomal dominant hereditary macrocephaly with hemangiomas, lipomas and lymphangiomas. Rarely also intestinal polyps, postnatal macrosomia with decrease in length growth, eye changes, pigmentation anomalies(café-au-lait spots) of the skin, as well as melanotic spots in the genital area and psychomotor developmental disorders.

Autosomal-dominantly inherited mutations of the PTEN tumor suppressor gene (PTEN=acronym for "phosphatase and tensin homologue gene"; gene locus: 10q23.31). See also Cowden syndrome and Goltz-Gorlin syndrome.

1. Bannayan GA (1971) Lipomatosis, angiomatosis, and macrencephalia: a previously undescribed congenital syndrome. Arch Path 92: 1-5
2. Ruvalcaba RH, Myhre S, Smith DW (1980) Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia. Clin Genet 18: 413-416
3. Merg A, Howe JR (2004) Genetic conditions associated with intestinal juvenile polyps. At J Med Genet 129: 44-55
4. Riley HD Jr, Smith WR (1960) Macrocephaly, pseudopapilledema and multiple hemangiomata: a previously undescribed heredofamilial syndrome. Pediatrics 26: 293-300
5. Zonana J, Davis D, Rimoin DL (1975) Multiple lipomas, hemangiomas and macrocephaly--an autosomal dominant hamartomatous syndrome. On J Hum Genet 27: 97A
6. Zonana J, Rimoin DL, Davis DC (1976) Macrocephaly with multiple lipomas and hemangiomas. J Pediat 89: 600-603