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symptoms & Diagnosis

symptoms & Diagnosis

Presentation of XLH in children

XLH is not just a childhood bone disorder—the symptoms affect the whole body from childhood to adulthood. Signs and symptoms of XLH vary in presentation and severity.

The signs and symptoms your patients are suffering from may be connected.1,2

Symptoms of XLH in children

Childhood symptoms of XLH may vary and appear early in life, with some manifesting as rickets and osteomalacia. Chronic low levels of serum phosphorus negatively impact bone formation, dental development, muscle/nerve function, and energy levels.1,3,4

Every patient with XLH is different. A patient does not need to show all of the following symptoms to have XLH.

Skeletal defects

Chronic hypophosphatemia leads to defective growth plate development and bone mineralization.5
Skeletal symptoms present as:
Molded plastic cast representing rickets and osteomalacia
Rickets3,5 and osteomalacia3,5
Molded plastic lower torso including hip and bowed legs representing lower extremity abnormalities
Lower extremity abnormalities3
(eg, leg bowing and knock knees)
Molded plastic upper torso include arms and neck representing short stature
Short stature3
Two molded plastic hands representing bone pain
Bone pain6
Molded plastic side profile of a child's head representing Chiari malformations
Chiari malformations1,2
Other skeletal symptoms include:
  • Craniosynostosis1,2
  • Delayed walking1

Muscular dysfunction

Chronic hypophosphatemia also affects the muscles in the body.
Muscular symptoms present as:
  • Stiffness7,8
  • Pain7,8
  • Weakness7,8
  • Gait disturbances7

Dental abnormalities

Chronic hypophosphatemia can lead to dental defects caused by improper mineralization of dentin, enlargement of the pulp chambers, and defects in the enamel.1,2
Dental symptoms present as:
Molded plastic tooth with an abscess representing dental abscesses and tooth loss
Dental abscesses1,2 and tooth loss1,2,8

Other symptoms

Chronic hypophosphatemia can lead to additional symptoms in children.
One of those symptoms presents as:
Molded plastic front profile of a child's head representing fatigue
The letter i within a diamond denoting a callout

Because some symptoms of XLH may not be visible like chronic pain or fatigue, it is important to listen to your patients. Getting an accurate diagnosis can help you manage the full range of symptoms they may be experiencing.

XLH progression in real patients

X-ray image of a 4-year-old xlh patient’s right hand and wrist


4-year-old female with spontaneous XLH

See the study
X-ray image of a 15-year-old xlh patient’s legs showing osteotomies of femurs and left tibia


15-year-old female with spontaneous XLH

See the study

Connect the symptoms and take the next step

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Diagnosing XLH

Learn more about how to accurately diagnose XLH through testing.

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Managing XLH

Manage XLH early to prevent progressive bone damage.

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Learn more about XLH

Watch videos to get more information about how XLH affects the body.

Stay connected

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1. Linglart A, Biosse-Duplan M, Briot K, et al. Therapeutic management of hypophosphatemic rickets from infancy to adulthood. Endocr Connect. 2014;3(1):R13-R30. doi:10.1530/EC-13-0103 2. Ruppe MD. X-linked hypophosphatemia. In: Adam MP, Everman DB, Mirzaa GM, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; February 9, 2012. Updated April 13, 2017. 3. Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res. 2011;26(7):1381-1388. doi:10.1002/jbmr.340 4. Hamilton AA, Faitos S, Jones G, Kinsley A, Gupta RN, Lewiecki EM. Whole body, whole life, whole family: patients' perspectives on X-linked hypophosphatemia. J Endocr Soc. 2022;6(8):bvac086. doi:10.1210/jendso/bvac086 5. Carpenter TO. Primary disorders of phosphate metabolism. Endotext. Accessed February 3, 2023. 6. Linglart A, Dvorak-Ewell M, Marshall A, San Martin J, Skrinar A. Impaired mobility and pain significantly impact the quality of life of children with X-linked hypophosphatemia. Bone Abstracts. 2015;4(P198). doi:10.1530/boneabs.4.P198 7. Skrinar A, Dvorak-Ewell M, Evins A, et al. The lifelong impact of X-linked hypophosphatemia: results from a burden of disease survey. J Endocr Soc. 2019;3(7):1321-1334. doi:10.1210/js.2018-00365 8. Trombetti A, Al-Daghri N, Brandi ML, et al. Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia. Nat Rev Endocrinol. 2022;18(6):366-384. doi:10.1038/s41574-022-00662-x 9. Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15(7):435-455. doi:10.1038/s41581-019-0152-5