Signs and symptoms of XLH in children

Alejandro, living with XLH

X-linked hypophosphataemia (XLH) can have serious consequences in the bones, muscles and teeth of growing children

In 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. As the disease 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.

SEE THE SYMPTOMS OF XLH IN CHILDREN THAT MANIFEST IN:

BONES

Phosphate plays an important role in the development and growth of bones. Low phosphate levels, which result in poor bone health, also have a related impact on the muscles’ ability to function properly.

Symptoms

Delayed growth and short stature are common

Lower extremity deformities like bowed legs and knock-knees

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

Irregularities in the shape of the head, called craniosynostosis

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

Impact on daily life

Rickets and osteomalacia can be the causes of pain and impaired physical activity

MUSCLES

Healthy bones support the normal development of muscles in the body. Low phosphate levels, which result in poor bone health, also have a related impact on the muscles’ ability to function properly.