Common Characteristics of Bannayan-Ruvalcaba-Riley Syndrome
The most common characteristics of BRRS can be found in the table below. People with BRRS who have a mutation in the PTEN gene may also be at risk for the features associated with Cowden syndrome. Table 2 includes the common characteristics of Cowden syndrome.
Table 1: Common Characteristics of Bannayan-Ruvalcaba-Riley Syndrome (Please see the glossary for definitions of the terms.)
Class
|
Feature
|
Incidence
|
Growth
|
Birth Weight greater than 4 kg/9 lbs.
|
Majority
|
|
Birth Length Above the 97th percentile
(girls: 53 cm or 21 in, boys 55 cm or 21.5 in)
|
Majority
|
|
Normal Adult Height
|
Majority
|
Development
|
Low muscle tone (hypotonia)
|
50%
|
|
Motor Delay, Speech Delay, and/or
Mild Developmental Delay
|
50%
|
|
Myopathic process in proximal muscles
|
60%
|
|
Seizures
|
25%
|
Head
|
Macrocephaly
|
50%
|
Intestine
|
Hamartomatous polyps
|
45%
|
Skeletal
|
Joint hyperextensibility
Pectus Excavatum
Scoliosis
|
50%
50%
50%
|
Skin
|
Tan, nonelevated spots (freckling) on penis
Angiolipomas
|
Majority
50%
|
Tumors (benign)
|
Lipomas
Hemangiomas
|
75%
10-40%
|
Source: Gorlin RJ, Cohen MM, Condon LM, Burke BA. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Gent 1992: 44: 307-314
Heald, B, Mester, J., Rybicki, L., Orloff, M.S., Burke, C.A, and Eng, C. Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in Prospective Series of PTEN Mutation Carriers. Gastroenterology, epub 27 Jun 2010:
Jones, Kenneth Lyons. Smith's Recognizable Patterns of human Malformation. 5th Ed., WB Sanders Co 1997: 522-523.
Pilarski, R. Cowden syndrome: a Critical Review of the Clinical Literature. J Genet Counsel 2009;18:13-27.
Pilarski, R., Stephens, J., Noss, R., Fisher J.L. and Prior, T (2011). Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome clinical features. In press.
Table 2: Common Characteristics of Cowden Syndrome
Class
|
Feature
|
Incidence
|
Skin and mouth lesions
|
Trichilemmomas
Acral keratoses
Papillomatous papules
|
90-100%
|
Head
|
Macrocephaly
|
80%
|
Development
|
Mental retardation/developmental delay
|
15-20%
|
Thyroid problems
|
Goiter
Adenomas, nodules
|
40-60%
|
Breast Problems (females)
|
Fibroadenomas
Fibrocystic disease
|
40%
|
Gastrointestinal
|
Hamartomatous polyps, ganglioneuromas
|
80%
|
Gynecologic problems
|
Uterine fibroids (multiple and early onset)
|
25%
|
Other benign growths
|
Lipomas
Hemangiomas
|
40-50%
10-40%
|
Cancer
|
Thyroid Cancer
Breast Cancer
Endometrial Cancer
|
3-10%
25-50%
6-8%
|
Heald, B, Mester, J., Rybicki, L., Orloff, M.S., Burke, C.A, and Eng, C. Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in Prospective Series of PTEN Mutation Carriers. Gastroenterology, epub 27 Jun 2010.
Pilarski, R. Cowden syndrome: a Critical Review of the Clinical Literature. J Genet Counsel 2009;18:13-27.
Pilarski, R., Stephens, J., Noss, R., Fisher J.L. and Prior, T (2011). Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome clinical features.
Robert Pilarski, MS, CGC, MSW, LSW Ohio State University
Joy Larsen Haidle, MS, CGC, Humphrey Cancer Center
Heather Hampel, MS, CGC, Ohio State University
Last Reviewed: September 2010
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