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Ruvalcaba Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report 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

  • Osseous dysplasia with mental retardation, Ruvalcaba type

Disorder Subdivisions

  • None

General Discussion

Ruvalcaba syndrome is a rare inherited disorder characterized by short stature, abnormalities affecting the head and facial (craniofacial) area, mental retardation, skeletal malformations, and/or underdeveloped (hypoplastic) genitalia. Characteristic craniofacial features include an abnormally small head (microcephaly); an abnormally small, narrow nose; and down-slanting eyelid folds (palpebral fissures). Skeletal malformations may include fifth fingers that are permanently fixed in a bent position (clinodactyly) and/or abnormally short bones between the wrists and the fingers (metacarpals) and the ankles and toes (metatarsals), resulting in unusually small hands and feet. In addition, affected children may have abnormal side-to-side curvature of the spine (scoliosis) and/or unusual prominence of the breastbone (pectus carinatum). Ruvalcaba syndrome is inherited as an autosomal dominant genetic trait.

Resources

Human Growth Foundation

997 Glen Cove Avenue

Suite 5

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Internet: http://www.hgfound.org/



FACES: The National Craniofacial Association

PO Box 11082

Chattanooga, TN 37401

Tel: (423)266-1632

Fax: (423)267-3124

Tel: (800)332-2373

Email: faces@faces-cranio.org

Internet: http://www.faces-cranio.org



The Arc

1825 K Street NW, Suite 1200

Washington, DC 20006

Tel: (202)534-3700

Fax: (202)534-3731

Tel: (800)433-5255

TDD: (817)277-0553

Email: info@thearc.org

Internet: http://www.thearc.org



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

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

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.

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:  4/12/2008

Copyright  1994, 1998, 2006 National Organization for Rare Disorders, Inc.

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