Bannayan Riley Ruvalcaba Syndrome

National Organization for Rare Disorders, Inc.

Important
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.

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)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

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

NIH/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
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: 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
Tel: (800)422-6237
TDD: (800)332-8615
Internet: http://www.cancer.gov

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

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