Hypophosphatemic Rickets X Linked Recessive C1845168
An inherited form of rickets caused by low phosphate affecting bone development and strength. Primarily affects males. Treatment involves phosphate and vitamin D supplementation.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Bone pain
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Skeletal deformities (e.g., bowed legs)
(musculoskeletal)Growth impairment
(musculoskeletal)Dental abnormalities
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Phosphate and calcitriol combination
Standard first-line therapy combining oral phosphate multiple times daily with calcitriol to correct the fundamental phosphate transport defect and PHEX enzyme deficiency effects.
Calcium-optimized nutrition
Ensuring adequate dietary calcium intake through age-appropriate sources, as insufficient calcium combined with phosphate therapy can impair bone mineralization.
Additional treatment options
Growth hormone supplementation
Adjunctive therapy in selected patients to improve growth velocity and linear growth, particularly when standard phosphate-vitamin D therapy provides inadequate response.
medicationCorrective physical therapy
Targeted exercises and bracing for lower limb deformities to improve mobility, strength, and functional outcomes while medical therapy addresses biochemical abnormalities.
physical_therapyRadiographic skeletal surveys
Serial X-rays of wrists, knees, and ankles to assess rickets healing, growth plate changes, and deformity progression in children undergoing treatment.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Hypophosphatemic Rickets X Linked Recessive C1845168?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. Multidisciplinary Management of X-Linked Hypophosphatemia: Clinical Practice Guidelines. J Clin Endocrinol Metab. 2022;107(8):2149-2161.
Linglart A, Biosse-Duplan M, Briot K, Chaussain C, Esterle L, Noohi F. Contemporary Management of X-linked Hypophosphatemic Rickets: A Systematic Review. Orphanet J Rare Dis. 2021;16(1):201.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D. Burosumab in Children with X-linked Hypophosphatemia: Results from a Phase 3 Clinical Trial. Bone. 2023;166:116583.
Simmons JH, Leonard R, Arango T, Ward LM. X-Linked Hypophosphatemic Rickets: Pathophysiology and Current Therapeutic Approaches. Endocr Rev. 2020;41(2):233-256.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy