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XLH affects every child differently

Symptoms of X-linked hypophosphatemia 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:

Bone

Rickets
(Weakening of
growing bones)

Leg in a cast

Osteomalacia
(Weakening of
mature bones)

Delayed walking

Delayed
walking

Short stature

Short
stature

Bone and joint pain

Bone and
joint pain

Bowed legs and knock knees

Bowed legs and
knock knees

Irregularities in walking/balance

Irregularities in walking/balance
(gait abnormalities)

Muscle pain and weakness

Muscle pain
and weakness

Dental abscesses

Dental
abscesses

Tooth loss

Tooth loss

Irregularities in the shape of the head

Irregularities in the shape of the head
(craniosynostosis)

Headaches

Headaches
often due to structural defects in the back of the skull (Chiari malformations)

Quality of life

Diminished
quality of life

“Her legs were very bowed, and I knew
something wasn’t right.”
Emily and her daughter Isla, both living with XLH

Taking the next step

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Understanding their diagnosis

Learn how XLH can be
diagnosed early.

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Preparing for an appointment

Learn more about XLH to prepare for discussions with specialists.

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