Bannayan-Riley-Ruvalcaba Syndrome
A Guide for patients and their families
Common Characteristics
Sarah Burton, UI Health Care
Joy Larsen Haidle, MS, CGC, UI Health Care
Heather Hampel, MS, CGC, Ohio State University
Peer Review Status: Internally reviewed by the authors
First Published: 2002
Last Revised: 2002
Common Characteristics of Bannayan-Riley-Ruvalcaba Syndrome
**Please refer to the glossary at the end of this pamphlet for the definition of these 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 |
| Motor Skills |
Hypotonia |
50% |
|
Motor Delay, Speech Delay, and/or
Mild Developmental Delay |
50% |
|
Seizures |
25% |
| Head and Face |
Macrocephaly with normally sized ventricles |
50% |
|
Downslanting palebral fissures |
60% |
|
Strabismus and/or Amblyopia |
15% |
|
Prominent Schwalbe lines and/or
prominent corneal nerves |
35% |
| Intestine |
Illeal and colonic hamartomatous polyps |
45% |
| Tumor risks |
Lipomas |
75% |
|
Hemangiomas |
10-40% |
|
Thyroid Cancer (implied cancer risk) |
3-10% ** |
|
Breast Cancer (implied cancer risk) |
30-50% ** |
| Males |
Tan, nonelevated spots (freckling) on penis |
Majority |
| Other Areas |
Myopathic processes occurring in proximal muscle |
60% |
|
Cutaneous angiolipomas |
50% |
|
Joint hyperextensibility |
50% |
|
Pectus Excavatum |
50% |
|
Scoliosis |
50% |
|
Lymphangiomyomas |
10% |
*Gorlin RJ, Cohen MM, Condon LM, Burke BA. Bannayan-Riley-Ruvalcaba syndrome. Am J Med Gent 1992: 44: 307-314
* Jones, Kenneth Lyons. Smith's Recognizable Patterns of human Malformation. 5th Ed., WB Sanders Co 1997: 522-523.
** 8. Marsh DJ, Kum JB, Lunetta KL et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannyan-Riley-Ruvalcaba syndrome suggest a single entity with cowden syndrome. Hum Mol. Genet 1999: 8:1461-1472
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