Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hypophosphatemia, Familial


Synonyms of Hypophosphatemia, Familial
  • Hereditary Type I Hypophosphatemia (HPDR I)
  • Hereditary Type II Hypophosphatemia (HPDR II)
  • Hypophosphatemic D-Resistant Rickets I
  • Hypophosphatemic D-Resistant Rickets II
  • Phosphate Diabetes
  • X-Linked Hypophosphatemia (XLH)
  • X-Linked Vitamin D-Resistant Rickets

Disorder Subdivisions

  • Autosomal Dominant Hypophosphatemic Rickets (ADHR)
  • Autosomal Recessive Hypophosphatemic Rickets
  • X-Linked Hypophosphatemic Rickets


General Discussion
Familial hypophosphatemia is a rare inherited disorder characterized by impaired transport of phosphate and altered vitamin-D metabolism in the kidneys. In addition, calcium and phosphate are not absorbed properly in the intestines, which can lead to softening of bones. Familial hypophosphatemia results in rickets, a childhood bone disease with characteristic growth plate abnormalities and progressive softening of the bone structure. In adults, the growth plate is not present so that the rickets primarily affects bone, a process generall called osteomalacia.

Major symptoms of familial hypophosphatemia include skeletal malformations, bone pain, and abnormally bowed legs. Affected infants often fail to grow at the expected rate, potentially resulting in short stature. Familial hypophosphatemia is most often inherited as an X-linked trait. However, autosomal dominant and recessive forms of familial hypophosphatemia have been reported in the medical literature.

Organizations related to Hypophosphatemia, Familial
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: mums@netnet.net
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: getinfo@madisonsfoundation.org
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: Askus@marchofdimes.com
    Home page: http://www.marchofdimes.com
  • NIH/National Digestive Diseases Information Clearinghouse
    2 Information Way
    Bethesda MD 20892-3570
    Phone #: 301-654-3810
    800 #: 800-891-5389
    e-mail: nddic@info.niddk.nih.gov
    Home page: http://www.niddk.nih.gov
  • XLH Network Inc.
    4562 Stoneledge Lane
    Manlius NY 13104
    Phone #: 315-682-2659
    800 #: --
    e-mail: info@xlhnetwork.org
    Home page: http://www.xlhnetwork.org



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