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Diagnosis of XLH when there is no family history of XLH
XLH can be one of the most frustrating bone syndromes to diagnose, even though it is the classic phosphate wasting disorder. There can be many reasons for rickets symptoms in young children. Dr. Susan Ott of the University of Washington Medical School in Seattle, Washington state, USA, has created a diagnostic outline of some of these disorders (http://courses.washington.edu/bonephys/hypercalU/opmal2.html) which we believe can be very useful in differentiating among them. Last modified Aug 8, 2007 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 spotaneous dental abscesses, and low blood phosphorus levels.
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