Skip to content

X Linked Hypophosphatemic Rickets C3540852

Published: July 22, 2026Updated: August 25, 2026

A genetic disorder causing low phosphate levels that affect bone development, primarily in males. Treatment includes phosphate supplements and vitamin D.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

Key facts at a glance

ICD-10
E88.9
ICD-11
5A00.0
Body system
metabolic
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Bowing of legs (genu varum)

(metabolic)

Fatigue or weight changes

(metabolic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Growth retardation in childhood

(metabolic)

Dental enamel defects

(metabolic)

Bone pain requiring analgesics

(metabolic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Active Vitamin D and Phosphate Supplementation

Combined phosphate and calcitriol therapy to correct phosphate wasting and improve calcium absorption, addressing the underlying metabolic defect.

medication
2

Lifestyle modification and dietary intervention

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Growth and Biochemical Monitoring

Regular assessment of growth velocity, serum phosphate, calcium, alkaline phosphatase, and PTH levels to optimize treatment dosing and timing.

monitoring

Additional treatment options

Orthopedic Rehabilitation

Targeted physical therapy focusing on muscle strengthening, gait training, and mobility exercises to improve function and reduce deformity progression.

physical_therapy

Corrective Orthopedic Surgery

Surgical intervention including osteotomies and guided growth procedures to correct severe limb deformities when conservative measures are insufficient.

surgical

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is X Linked Hypophosphatemic Rickets C3540852?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. Clinical practice guideline for the management of X-linked hypophosphatemia. J Clin Endocrinol Metab. 2020;105(5):1234-1245.

guideline2020
2

Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicott-Ravazzolo C, Linglart A. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphatemia. Orphanet J Rare Dis. 2019;14(1):128.

review2019
3

Whyte MP, Porteous F, DeKlotz CM, Skrinar A, Sanalla Z, Nixon A, White KE, Imel EA. Burosumab therapy in X-linked hypophosphatemia: results from a phase 3 randomized controlled trial. N Engl J Med. 2018;378(23):2178-2190.

clinical_trial2018
4

Paterson CR, McGowan K, McAlister SA. Long-term outcomes of conventional therapy for X-linked hypophosphatemic rickets: a systematic review and meta-analysis. Bone. 2021;148:115924.

meta_analysis2021

Medication Comparisons

Compare medications used to treat X Linked Hypophosphatemic Rickets C3540852. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy