Hypophosphatemia, Familial

Important
It is possible that the main title of the report Hypophosphatemia, Familial 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

Hypophosphatemic D-Resistant Rickets I
Hypophosphatemic D-Resistant Rickets II
Phosphate Diabetes
X-Linked Vitamin D-Resistant Rickets
Hereditary Type I Hypophosphatemia (HPDR I)
Hereditary Type II Hypophosphatemia (HPDR II)
X-Linked Hypophosphatemia (XLH)

Disorder Subdivisions

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

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
Tel: (800)891-5389
Email: nddic@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

XLH Network Inc.
4562 Stoneledge Lane
Manlius, NY 13104
Tel: (315)682-2659
Email: info@xlhnetwork.org
Internet: 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

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: 3/31/2008
Copyright 1987, 1988, 1989, 1992, 1993, 1994, 1995, 2000, 2005 National Organization for Rare Disorders, Inc.

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