Bannayan Riley Ruvalcaba Syndrome

Important
It is possible that the main title of the report Bannayan Riley Ruvalcaba Syndromeis not the name you expected.

Synonyms

BRRS
Bannayan-Zonana syndrome (BZS)
Riley-Smith syndrome
Ruvalcaba-Myhre-Smith syndrome (RMSS)
Macrocephaly, multiple lipomas, and hemangiomata
Macrocephaly, pseudopapilledema, and multiple hemangiomata

Disorder Subdivisions

None

General Discussion

Bannayan-Riley-Ruvalcaba syndrome is a rare inherited disorder characterized by excessive growth before and after birth; an abnormally large head (macrocephaly) that is often long and narrow (scaphocephaly); normal intelligence or mild mental retardation; and/or benign tumor-like growths (hamartomas) that, in most cases, occur below the surface of the skin (subcutaneously). The symptoms of this disorder vary greatly from case to case.

In most cases, infants with Bannayan-Riley-Ruvalcaba syndrome exhibit increased birth weight and length. As affected infants age, the growth rate slows and adults with this disorder often attain a height that is within the normal range. Additional findings associated with Bannayan-Riley-Ruvalcaba syndrome may include eye (ocular) abnormalities such as crossed eyes (strabismus), widely spaced eyes (ocular hypertelorism), deviation of one eye away from the other (exotropia), and/or abnormal elevation of the optic disc so that it appears swollen (pseudopapilledema). In addition, affected infants may also have diminished muscle tone (hypotonia); excessive drooling; delayed speech development; and/or a significant delay in the attainment of developmental milestones such as the ability to sit, stand, walk, etc. In some cases, multiple growths (hamartomatous polyps) may develop within the intestines (intestinal polyposis) and, in rare cases, the back wall of the throat (pharynx) and/or tonsils. Additional abnormalities associated with this disorder may include abnormal skin coloration (pigmentation) such as areas of skin that may appear "marbled" (cutis marmorata) and/or the development of freckle-like spots (pigmented macules) on the penis in males or the vulva in females. In some cases, affected individuals may also have skeletal abnormalities and/or abnormalities affecting the muscles (myopathy). Bannayan-Riley-Ruvalcaba syndrome is inherited as an autosomal dominant genetic trait.

Bannayan-Riley-Ruvalcaba is the name used to denote the combination of three conditions formerly recognized as separate disorders. These disorders are Bannayan-Zonana syndrome, Riley-Smith syndrome, and Ruvalcaba-Myhre-Smith syndrome.
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Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

The Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring
MD
20910
Tel: (301)565-3842
Fax: (301)565-3843
800: (800)433-5255
TDD: (817)277-0553
info@thearc.org
http://www.thearc.org/

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas
TX
75204
800: (800)535-3643NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda
MD
20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov/Health_Info

National Cancer Institute
6116 Executive Blvd, MSC 8322, Room 3036A
Bethesda
MD
20892-8322
USA
Tel: (301)435-3848
800: (800)422-6237
TDD: (800)332-8615
http://www.cancer.gov

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 8/7/2007
Copyright 1998, 2002, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: August 07, 2007

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.