Diagnosis of XLH
Elizabeth and her mother, Jean, living with XLH
Elizabeth and her mother, Jean, living with XLH
Early and accurate diagnosis of XLH is important so that the condition can be managed. Diagnosis of XLH is typically during childhood, usually within 1-2 years of age, when legs start supporting weight. During this time, you can also recognize common symptoms of XLH such as:
The earlier XLH is identified, the better the chances are of managing the symptoms and, therefore, the condition.
See the different symptoms of XLH in children
In some instances, adults with XLH may be misdiagnosed during childhood or can remain undiagnosed. They may continue to experience unresolved symptoms of their ongoing condition as:
See the different symptoms of XLH in adults
Because XLH is a rare condition that affects anywhere from 1 in 20,000 to 1 in 25,000 people, it can be mistaken for other conditions, such as:
Nutritional rickets and other types of rickets disorders that can be inherited
Normal variations in the appearance of the legs (physiologic leg bowing)
Hypophosphatasia, a condition that also affects bones and teeth
See the signs and symptoms of XLH in children