Osteomalacia and rickets

Last updated: July 3, 2023

Summarytoggle arrow icon

Osteomalacia and rickets are disorders of bone mineralization. In osteomalacia, remodeling of preexisting bone is defective; in rickets, new bone formation is defective. Osteomalacia can affect individuals of any age, whereas rickets can only occur in children with open growth plates. Osteomalacia and rickets are caused by insufficient calcium, phosphate depletion, and/or direct inhibition of bone mineralization. The most common cause of both disorders is vitamin D deficiency. Patients with osteomalacia usually present with bone pain and tenderness, while patients with rickets exhibit bone deformities and impaired growth. Over time, both conditions may lead to bowing of the long bones and/or pathological fractures. The diagnosis involves a combination of clinical history, abnormal laboratory studies, and, in many cases, imaging. Treatment, which is directed at the underlying cause, most commonly involves treatment of vitamin D deficiency and ensuring sufficient calcium intake.

Etiologytoggle arrow icon

Overview of etiologies of rickets and osteomalacia
Mechanism Underlying causes
Insufficient calcium (calcipenic rickets) [1]
Phosphate deficiency (phosphopenic rickets) [1]
Direct inhibition of bone mineralization [1]

Vitamin D deficiency is the most common cause of both osteomalacia and rickets. Vitamin D-independent causes (i.e., hypophosphatemia, hypocalcemia, medication-induced) and hereditary causes are less common. [2]

Pathophysiologytoggle arrow icon

The causes of osteomalacia and rickets involve at least one of the following mechanisms: [1][5]

Impaired bone mineralization can affect both existing bone matrix (osteomalacia) and, if growth plates are still open, new bone formation (rickets). [1]

Low phosphate is present in both calcipenic and phosphopenic forms of osteomalacia and rickets. [1][5]

Clinical featurestoggle arrow icon

Osteomalacia [5]

Osteomalacia and rickets may be asymptomatic. [6][7]

Rickets [1]

Osteomalacia is defective mineralization of existing bone and can occur in individuals with open or closed growth plates. Rickets is defective mineralization of new bone formation and, therefore, only occurs in children with open growth plates (i.e., before the end of puberty). [8]

Subtypes and variantstoggle arrow icon

Vitamin D-dependent rickets type 1 [1][3][9]

Vitamin D-dependent rickets type 2 [1][4][9]

Diagnosticstoggle arrow icon

General principles [1][5][11]

  • Diagnosis is based on characteristic laboratory and imaging findings.
  • The choice of imaging depends on whether osteomalacia or rickets is suspected.
  • If there is diagnostic uncertainty, refer patients to endocrinology for advanced studies.

Diagnostic scoring systems for osteomalacia that include clinical history, biochemical results, and radiological imaging findings have been proposed, but they have not yet been validated. [5]

Laboratory studies [1][5][12]

Laboratory findings in osteomalacia and rickets by etiology [1][5][12]
Test Calcipenic rickets Phosphopenic rickets
Calcium, serum
  • Normal (initially) or ↓
  • Normal or ↑
Phosphorus, serum [1]
  • Normal (initially) or ↓
Calcium, urine
  • Variable
Phosphorus, urine
  • Variable
Parathyroid hormone (PTH)
  • Normal
Serum 25-OH (vitamin D levels)
  • or normal
  • Normal

PTH is elevated in calcipenic rickets but is typically normal in phosphopenic rickets. [1]


Modalities [1][12][13]

Imaging findings in osteomalacia and/or rickets [1][12][13]

Advanced studies [1][5][15]

Differential diagnosestoggle arrow icon

Differential diagnoses of osteomalacia [17][18]

Differential diagnoses of rickets [19]

Congenital pseudarthrosis of the tibia [20]

The differential diagnoses listed here are not exhaustive.

Treatmenttoggle arrow icon

General principles [1][5][12]

Treatment of vitamin D-associated osteomalacia and rickets [1][12][15]

In patients with malabsorption, vitamin D and calcium doses may need to be increased or given via alternative routes (i.e., IM/IV). [5][11]

Preventiontoggle arrow icon

Sun exposure is not recommended to prevent vitamin D deficiency because of the risk of skin cancer. [23]

Referencestoggle arrow icon

  1. Yan Y, Calikoglu AS, Jain N. Vitamin D-Dependent Rickets Type 1: A Rare, but Treatable, Cause of Severe Hypotonia in Infancy. J Child Neurol. 2011; 26 (12): p.1571-1575.doi: 10.1177/0883073811411190 . | Open in Read by QxMD
  2. Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Rickets. Nat Rev Dis Primers. 2017; 3 (1).doi: 10.1038/nrdp.2017.101 . | Open in Read by QxMD
  3. Levine MA. Diagnosis and Management of Vitamin D Dependent Rickets. Front Pediatr. 2020; 8.doi: 10.3389/fped.2020.00315 . | Open in Read by QxMD
  4. American Academy of Pediatrics. Textbook of Pediatric Care. American Academy of Pediatrics ; 2016
  5. Inamdar P, Bellad R, Herekar V. Vitamin D-dependent rickets type 2: Alopecia responding to 1,25 hydroxy Vitamin D. Journal of the Scientific Society. 2016; 43 (3): p.155.doi: 10.4103/0974-5009.190548 . | Open in Read by QxMD
  6. Wagner CL, Greer FR. Prevention of Rickets and Vitamin D Deficiency in Infants, Children, and Adolescents. Pediatrics. 2008; 122 (5): p.1142-1152.doi: 10.1542/peds.2008-1862 . | Open in Read by QxMD
  7. Jameson JL, Fauci AS, Kasper DL, Hauser SL, Longo DL, Loscalzo J. Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2). McGraw-Hill Education / Medical ; 2018
  8. Minisola S, Colangelo L, Pepe J, Diacinti D, Cipriani C, Rao SD. Osteomalacia and Vitamin D Status: A Clinical Update 2020. JBMR Plus. 2020; 5 (1).doi: 10.1002/jbm4.10447 . | Open in Read by QxMD
  9. Jha S, Chapman M, Roszko K. When Low Bone Mineral Density and Fractures Is Not Osteoporosis. Curr Osteoporos Rep. 2019; 17 (5): p.324-332.doi: 10.1007/s11914-019-00529-7 . | Open in Read by QxMD
  10. Misra M, Pacaud D, Petryk A, Collett-Solberg PF, Kappy M. Vitamin D Deficiency in Children and Its Management: Review of Current Knowledge and Recommendations. Pediatrics. 2008; 122 (2): p.398-417.doi: 10.1542/peds.2007-1894 . | Open in Read by QxMD
  11. Uday S, Högler W. Nutritional Rickets and Osteomalacia in the Twenty-first Century: Revised Concepts, Public Health, and Prevention Strategies. Curr Osteoporos Rep. 2017; 15 (4): p.293-302.doi: 10.1007/s11914-017-0383-y . | Open in Read by QxMD
  12. Munns CF, Shaw N, Kiely M, et al. Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. J Clin Endocrinol Metab. 2016; 101 (2): p.394-415.doi: 10.1210/jc.2015-2175 . | Open in Read by QxMD
  13. World Health Organization. Nutritional rickets: a review of disease burden, causes, diagnosis, prevention and treatment. World Health Organization ; 2019
  14. Chang CY, Rosenthal DI, Mitchell DM, Handa A, Kattapuram SV, Huang AJ. Imaging Findings of Metabolic Bone Disease. Radiographics. 2016; 36 (6): p.1871-1887.doi: 10.1148/rg.2016160004 . | Open in Read by QxMD
  15. Fukumoto S, Ozono K, Michigami T, et al. Pathogenesis and diagnostic criteria for rickets and osteomalacia — Proposal by an expert panel supported by Ministry of Health, Labour and Welfare, Japan, The Japanese Society for Bone and Mineral Research and The Japan Endocrine Society [Opinion]. Endocr J. 2015; 62 (8): p.665-671.doi: 10.1507/endocrj.ej15-0289 . | Open in Read by QxMD
  16. Bhan A, Rao AD, Rao DS. Osteomalacia as a Result of Vitamin D Deficiency. Endocrinol Metab Clin North Am. 2010; 39 (2): p.321-331.doi: 10.1016/j.ecl.2010.02.001 . | Open in Read by QxMD
  17. Gentile C, Chiarelli F. Rickets in Children: An Update. Biomedicines. 2021; 9 (7): p.738.doi: 10.3390/biomedicines9070738 . | Open in Read by QxMD
  18. Burgener FA, Kormano M, Pudas T. Differential Diagnosis in Conventional Radiology. Thieme ; 2011
  19. Bilezikian, JP. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. John Wiley & Sons ; 2018
  20. Michałus I, Rusińska A. Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment. Clin Genet. 2018; 94 (1): p.103-114.doi: 10.1111/cge.13229 . | Open in Read by QxMD
  21. Eisenberg KA, Vuillermin CB. Management of Congenital Pseudoarthrosis of the Tibia and Fibula. Curr Rev Musculoskelet Med. 2019; 12 (3): p.356-368.doi: 10.1007/s12178-019-09566-2 . | Open in Read by QxMD
  22. Blaney SM, Giardino AP, Orange JS, et al. Rudolph's Pediatrics, 23rd Edition. McGraw-Hill Education / Medical ; 2018
  23. Kennel KA, Drake MT, Hurley DL. Vitamin D Deficiency in Adults: When to Test and How to Treat. Mayo Clinic Proceedings. 2010; 85 (8): p.752-758.doi: 10.4065/mcp.2010.0138 . | Open in Read by QxMD

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