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Effects on growth

The annual height increase in children with XLH begins to deviate from that of healthy children at 6 months of age and progressively declines during early childhood.3

Girls
Growth chart for girls aged 0 to 13 expand
  • Girls with no XLH
  • Girls with XLH
Boys
Growth chart for boys aged 0 to 13 expand
  • Boys with no XLH
  • Boys with XLH
Effects on physical functioning and mobility2

A 2019 survey* showed that children with XLH scored well below the US general population average for basic mobility, physical functioning, pain/comfort, and happiness.2

  • The mean score for the upper extremity function domain was within normal limits
Functioning and quality of life in children with XLH2
Functioning and quality of life bar graph showing how children with XLH compare against the normative healthy population mean

The Pediatric Orthopedic Society of North America Pediatric Outcomes Data Collection Instrument Score (POSNA-PODCI) is a parent-reported questionnaire to assess overall health, pain, and ability to participate in normal daily activities, as well as in more vigorous activities associated with children. It contains 7 scales that include upper extremity and physical function, transfer and basic mobility, sports and physical functioning, pain/comfort, and happiness and satisfaction.2

History of clinical symptoms that can impact mobility2
Bar graph showing the impact of clinical symptoms on joint mobility

Most survey respondents reported a history of clinical symptoms that can impact mobility, such as gait disturbances, pain, and restrictions in range of motion.2

  • Some children even required the use of a walking device
Effects on social and emotional wellness2*

Children with XLH often present with short stature and lower extremity abnormalities, both of which may affect their mental health and self-esteem.2,4

  • The average SF-10 physical health summary score in children with XLH was lower than the US general population average.2
SF-10 Physical Health and Psychosocial Summary Scores
Bar graph showing SF-10 Physical Health and Psychosocial Summary Scores relative to the US general population norms

The SF-10 Health Survey for Children is a 10-question, parent-completed survey designed to measure health-related quality of life in children. The scoring method evaluated 2 summary measures: a physical summary score and a psychosocial summary score.

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Accurate and early disease diagnosis can help minimize the lifelong XLH burden on your patients. Learn more about signs and symptoms of XLH.5,6

Connect the symptoms

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Suspect XLH?

Connect their symptoms and diagnose with the applicable tests.

Recognize the signs
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Diagnosing XLH

Learn more about how to diagnose XLH through testing.

Learn about testing
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XLH resources and community

Find resources for you and your patients to understand more about this rare condition.

Resources

*These data are taken from a 2019 burden of disease study conducted in 90 pediatric patients with XLH. This component is from an international survey of parents and caregivers of children with XLH that reported below-normal health-related quality of life assessments.2

References:

1. Haffner D, et al. Nat Rev Nephrol. 2019;15(7):435-455. 2. Skrinar A, et al. J Endocr Soc. 2019;3(7):1321-1334. 3. Mao M, et al. J Clin Endocrinol Metab. 2020;105(10):3243-3249. 4. Nguyen C, et al. Endocrine Connections. 2022. e210564. 5. Dahir K, et al. J Endocr Soc. 2020;4(12):bvaa151. 6. Glorieux FH, et al. Orphanet J Rare Dis. 2022;17(1):30.