Dental problems, particularly unexplained abscesses in primary teeth, are also a common sign of the disease. Typically, if there is no apparent family history, parents become concerned when a toddler's legs appear bowed. Although in some cases osteotomies are required to correct pronounced lower leg deformities, in other cases a dramatic response to the medication is achieved, and the lower legs straighten over several years of growth. Regular monitoring of these blood tests, and ultrasound examination of the kidneys, are part of the standard care associated with this condition. Inheritance patterns X-linked dominant.
Fathers only pass the disorder to their daughters.
The XLH syndrome can appear when there has been no family history of bone problems. This is possible, if there is a family history, although in practise it may be difficult to find a molecular biology laboratory that would provide such a service. The gene affected in this syndrome is called PHEX, and it codes for an endopeptidase associated with bone and parathyroid cells, which is believed to act on a phosphate-handling hormone. The XLH Network was established in 1996 as an Internet based world wide support group. Members Over 200 Subscription Donations only Contact a Family is a UK charity which helps families who care for children with any disability or special need.