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XLH SYMPTOMS ARE DIFFERENT FOR EVERYONE

Some people have many symptoms, while others have only a few. Even if your symptoms of XLH look or feel different from someone else’s, it’s important to pay attention to them.

Karabeth

Living with XLH

SYMPTOMS THAT CAN BEGIN EARLY IN LIFE:

Karabeth

Living with XLH

Bones, muscles, and joints

  • Weakening of growing bones (rickets)
  • Weakening of mature bone (osteomalacia)
  • Delayed walking or problems with walking (gait abnormalities)
  • Shorter than average height
  • Bone and joint pain
  • Muscle pain and weakness
  • Bowed legs and knock knees
  • Unusual shape of the head (craniosynostosis)

Dental

  • Dental issues such as abscesses and tooth loss

Other

  • Early hearing loss
  • Fatigue

SYMPTOMS THAT CAN DEVELOP LATER IN LIFE:

Bones, muscles, and joints

  • Joint damage (osteoarthritis)
  • Broken bones (fractures) and areas of weakened bone that are not completely broken (pseudofractures)
  • Hardening of tissue that connects to bone (enthesopathy)
  • Narrowing of spaces in the spine (spinal stenosis)

Dental

  • Problems with the gums, like redness, swelling, or infection (periodontitis)

Other

  • Hearing loss

Sunindiya and Raquel

Both living with XLH

Download the Doctor Discussion Guide

How is XLH diagnosed?

COMM-US-RDS-0998 August 2026