Hypophosphatemia, Familial / Disease

Diseases & Conditions

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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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.niddk.nih.gov
XLH Network Inc.
4562 Stoneledge Lane
Manlius NY 13104
Phone #: 315-682-2659
800 #: --
e-mail: [email protected]
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