The symptoms of XLH can vary in severity. Some people with XLH have no apparent bone-related symptoms and only hypophosphatemia, while others have severe symptoms. In many cases, symptoms become apparent within the first 18 months of life, when a child begins to bear weight on the legs. Early signs and symptoms may include abnormal bone development (leading to bowing or twisting of the lower legs) and short stature or a slowing growth rate. Other symptoms that may be present early or may develop include:
- Bone pain.
- Muscle pain and weakness.
- A waddling gait (manner of walking).
- Joint pain caused by hardening (calcification) of tendons and ligaments.
- Abnormal tooth development.
- Tooth abscesses and dental pain.
- Rickets that does not improve with traditional Vitamin D therapy.
In some cases, symptoms of XLH do not begin until adulthood. Symptoms that may develop in adults with XLH include joint pain and impaired mobility from enthesopathy (calcification of the tendons, ligaments, and joint capsules), tooth abscesses, and hearing loss.
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