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Hypophosphatasia
Important
It is possible that the main title of the report Hypophosphatasiais not the name you expected.
Synonyms
- HHRH
- Hypercalciuric Rickets
- Hypophosphatemic Rickets with Hypercalcemia
Disorder Subdivisions
- Hypophasphatasia, Infantile
- Hypophasphatasia, Childhood
- Hypophosphatasia, Adult
- Pseudohypophosphatasia
General Discussion
Hypophosphatasia is a inborn metabolic disorder of the bones characterized by skeletal defects resembling those of rickets. The symptoms result from a failure of bone mineral to be deposited in young, uncalcified bone (osteoid), and in the cartilage at the end of the long bones (epiphyses) during early years. The activity of the enzyme alkaline phosphatase in blood serum and bone cells is lower than normal. Urinary excretion and blood plasma concentrations of phosphoethanolamine and inorganic pyrophosphate are abnormally high. Unlike other forms of rickets, Hypophosphatasia does not respond to treatment with vitamin D.
Resources
CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe
Intl
CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
info@climb.org.uk
http://www.CLIMB.org.uk
MAGIC Foundation for Children's Growth
6645 W. North Avenue
Oak Park
IL
60302
Tel: (708)383-0808
Fax: (708)383-0899
800: (800)362-4423
mary@magicfoundation.org
http://www.magicfoundation.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com
Williams Syndrome Foundation
161 High Street
Tonbridge
TN9 1BX
United Kingdom
Tel: 01732 365152
Fax: 01732 360178
John.nelson-wsfoundation@btinternet.com
http://www.williams-syndrome.org.uk
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda
MD
20892-3675
USA
Tel: (301)495-4484
Fax: (301)718-6366
800: (877)226-4267
TDD: (301)565-2966
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov/Health_Info
XLH Network Inc.
4562 Stoneledge Lane
Manlius
NY
13104
Tel: (315)682-2659
info@xlhnetwork.org
http://www.xlhnetwork.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/
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: 8/8/2007
Copyright 1988, 1989, 1990, 1996, 1996, 1999, 2007 National Organization for Rare Disorders, Inc.
WebMD Medical Reference from the National Organization of Rare Disorders
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