Signs and symptoms of XLH in children

In X-linked hypophosphatemia (XLH), the body loses a lot of phosphate through the urine, which decreases the amount of phosphate in the body. Low phosphate levels can prevent the normal development of bones, muscles, and teeth, especially during childhood when most of the growth is taking place.

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Rickets is a common symptom of XLH that results from the softening of bones, causing them to bend or bow under weight. Rickets leads to other symptoms of XLH such as bowed legs, bone and joint pain, and short stature. As XLH progresses, new symptoms may appear or worsen and may even limit physical ability in children. The appearance of symptoms may vary widely among children. Understanding how these symptoms may affect daily life can help you and your child prepare for the challenges ahead.

BONES AND JOINTS

BONES AND JOINTS

Phosphate plays an important role in the development and growth of bones. Low phosphate leads to osteomalacia and rickets in children. Symptoms in the bones and joints can cause pain and impaired physical activity.

Short stature: XLH symptom in children

Stunted growth and short stature are common

Bowed legs & knock-knees: XLH symptoms in children

Lower limb abnormalities such as bowed legs and knock-knees

Rickets: XLH symptom in children

Bone and joint pain due to rickets and osteomalacia, which is the softening of the bones

Craniosynostosis: XLH symptom in children

Irregularities in the shape of the head, called craniosynostosis

Headaches: XLH symptom in children

Headaches, often due to a condition called Chiari malformation where brain tissue may occupy space in part of the spinal canal

MUSCLES

MUSCLES

Healthy bones support the normal development of muscles in the body. Weakened leg muscles can lead to a wobbly walk (waddling gait) and impaired physical ability.

Muscle weakness: XLH symptom in children

Muscle weakness

Muscle stiffness: XLH symptom in children

Muscle stiffness

Muscle pain: XLH symptom in children

Muscle pain

TEETH

TEETH

The health of teeth depends on the amount of phosphate in the body. Low phosphate levels can result in dental defects such as tooth pain, tooth infections, and eventual tooth loss.

Tooth abscesses: XLH symptom in children

Tooth abscesses

Irregular tooth space: XLH symptom in children

Irregular tooth spacing

 

As XLH progresses, new symptoms may appear or worsen, and they may even limit physical ability as a child ages

See the signs and symptoms of XLH in adults