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What is XLH

What is XLH

Symptoms of XLH in children

connect the symptoms

XLH affects every child differently

The symptoms of X-linked hypophosphatemia (XLH) vary from child to child. They can appear at any age and can worsen or change over time. Symptoms affect children and adults differently.

Children with XLH often experience bowed legs or knock knees

One of the first signs of XLH is a weakening of growing bones. This is called rickets. This typically appears as bowed legs or knock knees when a child begins to walk and put weight on their legs. As XLH progresses, bone weakening can lead to additional signs and symptoms, including bone and joint pain as well as short stature.

Symptoms of XLH in children

Symptoms in children may include:

Icon of dotted outline of bone
(weakening of growing bone)
soft bones
(weakening of mature bone)
Icon of a crawling baby
Delayed walking
Icon of child with short stature being measured by yardstick
Short stature
Icon of two bones forming a joint with pain
Bone and joint pain
Icon of bowed leg bones
Bowed legs and knock knees
Icon of child with faded legs
Irregularities in walking/balance
(gait abnormalities)
Icon of arm muscle with pain and weakness
Muscle pain and weakness
Icon of teeth with an abscess
Dental abscesses
Icon of a row of teeth with one missing
Tooth loss
Icon of misshapen head
Irregularities in the shape of the head
Icon of headache
often due to structural defects in the back of the skull (Chiari malformations)
Icon of battery with low power

Her legs were very bowed, and I knew that something wasn’t right.”


Both she and her daughter Isla (pictured) are living with XLH

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