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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

Karabeth, a young woman living with XLH, sitting relaxed with her hand resting against her cheek, smiling

SYMPTOMS THAT CAN BEGIN EARLY IN LIFE:

Karabeth, a young woman living with XLH, standing confidently with her hands on her hips and smiling

Karabeth

Living with XLH

Weakening bones

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)
A tooth

Dental

  • Dental issues such as abscesses and tooth loss
Hearing

Other

  • Early hearing loss
  • Fatigue

SYMPTOMS THAT CAN DEVELOP LATER IN LIFE:

Weakening bones

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)
A Tooth

Dental

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

Other

  • Hearing loss
Sunindiya and Raquel, both living with XLH, standing together and smiling

Sunindiya and Raquel

Both living with XLH

Doctor and patient having a discussion together

Download the Doctor Discussion Guide

for patients for Caregivers
A magnifying glass examining a DNA strand

How is XLH diagnosed?

LEARN MORE

COMM-US-RDS-0998 August 2026