Display Mode:

    Main content

    Health Information

    Hypochondroplasia

    Hypochondroplasia

    National Organization for Rare Disorders, Inc.

    Skip to the navigation

    Important
    It is possible that the main title of the report Hypochondroplasia 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

    • HCH

    Disorder Subdivisions

    • None

    General Discussion

    Hypochrondroplasia is a genetic disorder characterized by small stature and disproportionately short arms, legs, hands, and feet (short-limbed dwarfism). Short stature often is not recognized until early to mid childhood or, in some cases, as late as adulthood. In those with the disorder, bowing of the legs typically develops during early childhood but often improves spontaneously with age. Some affected individuals may also have an abnormally large head (macrocephaly), a relatively prominent forehead, and/or other physical abnormalities associated with the disorder. In addition, in about 10 percent of cases, mild mental retardation may be present.

    In some cases, hypochondroplasia appears to occur randomly for unknown reasons (sporadically) with no apparent family history. In other instances, the disorder is familial with autosomal dominant inheritance.

    Supporting Organizations

    European Skeletal Dysplasia Network

    Institute of Genetic Medicine
    Newcastle University
    Newcastle upon Tyne, NE1 3BZ
    United Kingdom
    Tel: 441612755642
    Fax: 441612755082
    Email: info@esdn.org
    Website: http://www.esdn.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
    Website: http://rarediseases.info.nih.gov/GARD/

    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
    Website: http://www.hgfound.org/

    Little People of America, Inc.

    250 El Camino Real Suite 201
    Tustin, CA 92780
    Tel: (714)368-3689
    Fax: (714)368-3367
    Tel: (888)572-2001
    Email: info@lpaonline.org
    Website: http://www.lpaonline.org/

    MAGIC Foundation

    6645 W. North Avenue
    Oak Park, IL 60302
    Tel: (708)383-0808
    Fax: (708)383-0899
    Tel: (800)362-4423
    Email: mary@magicfoundation.org
    Website: http://www.magicfoundation.org

    NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

    Information Clearinghouse
    One AMS Circle
    Bethesda, MD 20892-3675
    USA
    Tel: (301)495-4484
    Fax: (301)718-6366
    Tel: (877)226-4267
    Email: NIAMSinfo@mail.nih.gov
    Website: http://www.niams.nih.gov/

    Restricted Growth Association

    PO Box 5137
    Yeovil, BA20 9FF
    United Kingdom
    Tel: 3001111970
    Fax: 3001112454
    Email: office@restrictedgrowth.co.uk
    Website: http://www.restrictedgrowth.co.uk

    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:  12/9/1969
    Copyright  2007 National Organization for Rare Disorders, Inc.

    This information does not replace the advice of a doctor. Healthwise, Incorporated, disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Learn how we develop our content.

    Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.