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Information for Medical Professionals

Compiled by: Scott Schmitz

Hypophosphatemic Rickets entry in Merck Manual.

A review of the XLH scientific literature is available in the Online Mendelian Inheritance in Man ( OMIM number: 307800) database which is updated regularly.

Genetic Database
The genetic mutations responsible for XLH have been extensively studied and catalogued

An abstract list is also available on our web site.

The XLH Network Inc. keeps a contact database of medical professionals with experience with XLH. Our volunteers make this information available, on a confidential basis, to our members based upon geographic locale. If you would like to add your name to our contact database, please fill out our online information form. Contact information is kept private and confidential. If you would like our volunteers to facilitate introductions or to provide contact information for consultation or discussion, please contact us and we may be able to help.

A number of researchers and clinicians with an interest in XLH are members of The XLH Network Inc. If you would like to join our organization, you can apply online. There are numerous benefits to membership, and its free.


Last modified Mar 27, 2011

XLH is also known as X-Linked Hypophosphatemia (sometimes also spelled as hypophosphataemia), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets (VDRR) Rickets and even Genetic Rickets. Its notable characteristics are bowed legs, short stature, poor teeth formation causing spontaneous dental abscesses, and low blood phosphorus levels.

© 2002-2011, The XLH Network Inc.
The authors of this web site are not medical professionals, and this information does not substitute for medical care. Information on these pages is based on biomedical research, published in peer-reviewed journals, and international research conferences. Additionally, in some cases anecdotal information is provided by subscribers of the F-HYPDRR group, a mailing list for The XLH Network Inc. A complete web-site bibliography is available. Please read our full disclaimer.