What are the Typical Steps for Diagnosis of XLH?
Larry Winger, Ph.D., PGCE
This page represents the accumulated knowledge of five years of
listening to stories provided by inquirers who have joined the
F-HYPDRR Mailing list for The XLH Network Inc.
For families who have a young child with rickets symptoms, the steps
to a diagnosis can often seem like a marathon. There are many things
that can go wrong with the biochemical systems in the body. It's the
specialist's job to measure the different chemical constituents in
blood samples, to look carefully at the X-rays that are taken of a
child's wrists and legs, and to piece this information together, like
a clinical jigsaw puzzle, into a correct diagnosis.
These steps can often be accompanied by a great deal of frustration,
because parents may have been aware for some time that their child's
legs are just not right. But their concerns may have been brushed
aside by well-meaning caregivers used to dealing with overanxious
parents! We at The XLH Network Inc. are all too familiar with these
sorts of stories, though we also have some appreciation of how
difficult it is to define normal development.
The steps to diagnosis, even when rickets symptoms are recognized by
the doctor, carry their own frustration and it can be months of blood
tests, re-tests, urine collections, and repeat X-rays and visits to
various specialists, before a definitive diagnosis is found. By this
time parents may feel they are banging their heads against the wall,
and while they may be relieved that treatment can finally begin, may
wonder what else is facing them.
This is where The XLH Network Inc. can make a difference to parents
and their children. We have been through this process, whether our
children have a family history of XLH, or whether they are new cases.
We know what it feels like to wait for an answer. When a child is
diagnosed with XLH, the Internet can be the first place a parent will
turn, in an attempt to find out what this disorder will mean to their
child and their family. We know what happens during treatment, and we
have some idea what to expect, since the members of the F-HYPDRR
mailing list for The XLH Network Inc. range from newborn babies to
And we hope, when a searching parent finds us, that our support
systems will help us all, both to deal with this condition by getting
the best possible treatment and information about the disorder, and
to continue to learn more about XLH so that a real and lasting
therapy can be found.
Diagnosis for Medical Professionals
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