Bannayan-Riley-Ruvalcaba syndrome , BRRS (Abkürzung)
Riley-Smith syndrome
Ruvalcaba-Myhre-Smith syndrome , RMSS (Abkürzung)

Bannayan-Riley-Ruvalcaba syndrome is inherited as an autosomal dominant genetic trait.

In most cases, infants with Bannayan-Riley-Ruvalcaba syndrome exhibit increased birth weight and length.

In fact, some families have members with Cowden syndrome and others with Bannayan-Riley-Ruvalcaba syndrome.

These disorders include Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.

Bannayan-Riley-Ruvalcaba syndrome (Bannayan-Zonana syndrome)

Cowden Syndrome/Bannayan-Riley-Ruvalcaba Syndrome Gene(s)

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

For more information on Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome, see NORD's individual reports on these disorders in the Rare Disease Database.

Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome (BRRS) are part of a spectrum of conditions known collectively as PTEN hamartoma tumor syndromes.

Marsh DJ, Kum JB, Lunetta KL, et al.: PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

The term Proteus-like syndrome is used to describe individuals with significant features of Proteus syndrome, but who fail to meet the specific diagnostic criteria for the disorder, for Cowden syndrome and for Bannayan-Riley-Ruvalcaba syndrome.

PTEN hamartoma syndrome comprises four distinct hamartomatous disorders characterised by genetic mutations in the PTEN gene; Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome.

Zhou XP, Woodford-Richens K, Lehtonen R, et al.: Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Zhou XP, Waite KA, Pilarski R, et al.: Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PHTS includes virtually all cases of Cowden syndrome (also known as multiple hamartoma syndrome) and a percentage of cases of Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome and Proteus-like syndrome (i.e., those associated with mutations of the PTEN gene).

Riley-Smith syndrome was named for Harris D. Riley, Jr. and William R. Smith.

These disorders are Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre-Smith syndrome.

Ruvalcaba-Myhre-Smith syndrome: PTEN gene.

These disorders are Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre-Smith syndrome.

Ruvalcaba-Myhre-Smith syndrome is named for S. Myhre, Rogelio H. A. Ruvalcaba and David Weyhe Smith.