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    Hypophosphatasia

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

    • HPP
    • Rathbun disease

    Disorder Subdivisions

    • None

    General Discussion

    Summary
    Hypophosphatasia (HPP) is a rare genetic disorder characterized the abnormal development of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper hardness and strength. Defective mineralization results in bones that are soft and prone to fracture and deformity. Defective mineralization of teeth can lead to premature tooth loss. The specific symptoms can vary greatly from one person to another, sometimes even among members of the same family. There are five major clinical forms of HPP that range from an extremely severe form that can cause stillbirth to a form associated with only premature loss of baby (deciduous) teeth, but no bone abnormalities. Hypophosphatasia is caused by mutations in the tissue nonspecific alkaline phosphatase (ALPL) gene. This gene is also known as the TNSALP gene. Such mutations lead to low levels of the tissue nonspecific alkaline phosphatase enzyme. Depending on the specific form, hypophosphatasia can be inherited in an autosomal recessive or autosomal dominant manner.

    Resources

    CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    176 Nantwich Road
    Crewe, CW2 6BG
    United Kingdom
    Tel: 4408452412173
    Fax: 4408452412174
    Email: enquiries@climb.org.uk
    Internet: http://www.CLIMB.org.uk

    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
    Internet: http://www.magicfoundation.org

    March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains, NY 10605
    Tel: (914)997-4488
    Fax: (914)997-4763
    Internet: http://www.marchofdimes.com

    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
    TDD: (301)565-2966
    Email: NIAMSinfo@mail.nih.gov
    Internet: http://www.niams.nih.gov/

    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/

    European Skeletal Dysplasia Network
    Institute of Genetic Medicine
    Newcastle University
    International Centre for Life
    Central Parkway
    Newcastle upon Tyne, NE1 3BZ
    United Kingdom
    Tel: 441612755642
    Fax: 441612755082
    Email: info@esdn.org
    Internet: http://www.esdn.org

    Soft Bones, Inc.
    121 Hawkins Place
    #267
    Boonton, NJ 07005
    Tel: (201)317-1818
    Email: jane@softbones.org
    Internet: http://www.softbones.org

    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: 10/8/2014
    Copyright 1988, 1989, 1990, 1996, 1996, 1999, 2007, 2014 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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