Signs and symptoms of XLH in adults

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.


Unresolved Childhood Symptoms

Short stature is a symptom of XLH

Short stature

Osteomalacia is a symptom of XLH


Bone and joint pain are symptoms of XLH

Bone and joint pain

Leg deformities are symptoms of XLH

Lower extremity deformities like bowed legs and knock-knees

Irregular head shape is a symptom of XLH

Irregularities in the shape of the head, called craniosynostosis

Headaches may be from Chiari malformations due to XLH

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

The manifestation of osteomalacia is the underlying cause of pain, stiffness and impaired physical mobility


New Symptoms

Mineralized tendons are a symptom of XLH

Enthesopathy or mineralization of tendons and ligaments surrounding the Achilles, knees, hips and spine

Osteoarthritis is a symptom of XLH

Early onset of osteoarthritis or inflammation in the bones and joints

Fractures are a symptom of XLH

Fractures and pseudofractures

Hearing loss is a symptom of XLH

Hearing loss

As the disease progresses, these symptoms can also manifest, invoke pain and pose limitations in the body’s range of movements
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.

Muscle weakness is a symptom of XLH

Muscle weakness

Muscle stiffness is a symptom of XLH

Muscle stiffness

Muscle pain is a symptom of XLH

Muscle pain

Weakened leg muscles can lead to a wobbly walk (waddling gait) and impaired physical ability
Like bones, the health of teeth also depends on the amount of phosphate in the body. Low phosphate levels can result in defects of the teeth.

Tooth abscesses are a symptom of XLH

Tooth abscesses

Periodontitis is a symptom of XLH


Dental problems can lead to pain, tooth infections and eventual tooth loss