Information for Medical Professionals
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.
The genetic mutations responsible for XLH have been extensively
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
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
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
There are numerous
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.
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
is available. Please read our full