FrançaisAdults with XLH may experience symptoms in childhood and new symptoms later in life
These include complications such as increased risk of pseudofractures, osteoarthritis, the hardening of ligaments or tendons, as well as a variety of other musculoskeletal symptoms, including pain and stiffness that can decrease mobility and impact daily function.
Symptoms of XLH in adults
Symptoms in adults may include:
Osteomalacia
(Weakening of mature bones)
Short
stature
Bone and
joint pain
Bowed legs and
knock knees
Irregularities in
walking/balance
(gait abnormalities)
Muscle pain
and weakness
Dental
abscesses
Tooth loss
Irregularities in the
shape of the head
(craniosynostosis)
Headaches
often due to structural defects in the back of the skull (Chiari
malformations)
Hardening of
ligaments or tendons
(enthesopathy)
Narrowing of spaces
in the spinal column
(spinal stenosis)
Osteoarthritis
Fractures and
pseudofractures
(areas of bone weakened by a lack of certain minerals)
Hearing loss
Diminished
quality of life
“I tried to ignore my XLH, but I realize now
that I need to own my symptoms. If I can’t
admit that I have XLH, how am I supposed
to advocate for myself?” Ashley, living with XLH
Taking the next step
Understanding diagnosis
Learn how XLH can be
diagnosed early.
Preparing for a visit
Find out what to expect during an appointment with a specialist.
Explore resources
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