Signs and symptoms of XLH in adults
Jason, living with XLH
Jason, living with XLH
A diagnosis of XLH may have occurred during childhood, but the effects of an ongoing disease do not go away with time. New symptoms may continue to appear or existing symptoms may worsen over time, which can limit the body’s movements. Understanding the progression of the disease and how XLH symptoms may affect daily life can help you or your loved one prepare for the challenges ahead.
Phosphate plays an important role in the development and growth of the bones. Low phosphate levels in the blood result in poor bone mineralization, which can impact bone health and function.
Short stature
Osteomalacia
Bone and joint pain
Lower extremity deformities like bowed legs and knock-knees
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
Muscle weakness
Muscle stiffness
Muscle pain