It has an X-linked dominant pattern of inheritance. The most common form of the disorder is known as X-linked hypophosphatemic rickets (XLH). Researchers have described several forms of hereditary hypophosphatemic rickets, which are distinguished by their pattern of inheritance and genetic cause. In adults, hypophosphatemia is characterized by a softening of the bones known as osteomalacia. The disorder may also cause abnormal bone growth where ligaments and tendons attach to joints (enthesopathy). Other signs and symptoms of hereditary hypophosphatemic rickets can include premature fusion of the skull bones (craniosynostosis) and dental abnormalities.

If untreated, they tend to worsen with time.

These abnormalities become apparent with weight-bearing activities such as walking. The most noticeable of these abnormalities are bowed legs or knock knees. They develop bone abnormalities that can interfere with movement and cause bone pain. More severely affected children experience slow growth and are shorter than their peers. Mildly affected individuals may have hypophosphatemia without other signs and symptoms. The features of the disorder vary widely, even among affected members of the same family. In most cases, the signs and symptoms of hereditary hypophosphatemic rickets begin in early childhood. Phosphate is a mineral that is essential for the normal formation of bones and teeth. Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia).

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