It is possible that the main title of the report Bannayan Riley Ruvalcaba Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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.
March of Dimes Birth Defects Foundation
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NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
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National Cancer Institute
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MUMS National Parent-to-Parent Network
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Genetic and Rare Diseases (GARD) Information Center
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This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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.
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Last Updated: 8/7/2007
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