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Copyright 1998, 2002, 2007
Synonyms of Bannayan Riley Ruvalcaba Syndrome
- Bannayan-Zonana syndrome (BZS)
- BRRS
- Macrocephaly, multiple lipomas, and hemangiomata
- Macrocephaly, pseudopapilledema, and multiple hemangiomata
- Riley-Smith syndrome
- Ruvalcaba-Myhre-Smith syndrome (RMSS)
Disorder Subdivisions
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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Organizations related to Bannayan Riley Ruvalcaba Syndrome
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: NIAMSinfo@mail.nih.gov
Home page: http://www.niams.nih.gov/Health_Info
- National Cancer Institute
6116 Executive Blvd, MSC 8322, Room 3036A
Bethesda MD 20892-8322
Phone #: 301-435-3848
800 #: 800-422-6237
e-mail: N/A
Home page: http://www.cancer.gov
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