Which Disease Causes Rickets? An In-depth Look at the Causes

October 26, 2025 •

4 min read

According to the National Institutes of Health, while vitamin D deficiency is the most frequent cause globally, rickets can also be triggered by a complex array of genetic and metabolic conditions. Understanding which disease causes rickets is critical for proper diagnosis and effective treatment, as the underlying cause dictates the appropriate course of action.

Quick Summary

This article explores the diverse causes of rickets, from the common nutritional deficiencies of vitamin D, calcium, and phosphate to more complex genetic syndromes, kidney and liver disorders, and rare conditions like tumor-induced osteomalacia.

Key Points

Nutritional Deficiency is Most Common: Inadequate vitamin D, calcium, or phosphorus intake from diet or lack of sunlight is the leading cause of rickets.
Genetic Rickets Affects Mineral Handling: Inherited forms like hypophosphatemic rickets and vitamin D-dependent rickets interfere with the body's ability to regulate phosphate and/or respond to vitamin D.
Organ Diseases Impact Metabolism: Chronic kidney disease and liver disease can cause rickets by disrupting the body's metabolic pathways for activating vitamin D.
Rarely Caused by Tumors: A rare condition called tumor-induced osteomalacia can cause rickets when a benign tumor secretes hormones that cause severe phosphate loss.
Malabsorption Syndromes Increase Risk: Conditions like celiac disease or cystic fibrosis can lead to rickets by hindering the absorption of fat-soluble vitamins and minerals from the intestine.
Dental Complications are Common: Both genetic and nutritional rickets can cause significant dental problems, including abscesses, thin enamel, and delayed tooth eruption.

The softening and weakening of bones in children, known as rickets, result from defective bone mineralization. This failure of bone tissue to properly harden can stem from inadequate levels of essential minerals like calcium and phosphate, often influenced by the body's vitamin D status. While nutritional deficiency is the most common cause, a number of other diseases can also cause rickets, necessitating accurate diagnosis to ensure a successful outcome.

The Most Common Cause: Nutritional Rickets

Vitamin D deficiency is the primary cause of nutritional rickets, a condition that was once thought to be largely eradicated but has seen a recent resurgence. Vitamin D is crucial for helping the body absorb calcium and phosphorus from the diet. Without enough vitamin D, these minerals cannot be properly utilized to build strong bones.

Causes of Vitamin D Deficiency

Inadequate Sunlight Exposure: The skin produces vitamin D when exposed to sunlight. Risk factors include living in northern latitudes, limited outdoor time, wearing extensive sun-protective clothing, or having dark skin pigmentation, which reduces UV light absorption.
Insufficient Dietary Intake: While few foods naturally contain significant vitamin D (such as fatty fish), many dairy products and cereals are fortified. Exclusive breastfeeding without supplementation can also pose a risk, as breast milk contains very little vitamin D.
Dietary Calcium or Phosphorus Deficiency: Though less common in developed countries, a diet extremely low in calcium or phosphorus can directly cause rickets. This can be a concern with certain vegetarian or vegan diets.
Malabsorption Syndromes: Conditions like cystic fibrosis or celiac disease can impair the intestinal absorption of fats, including fat-soluble vitamin D, leading to a deficiency even with adequate intake.

Genetic and Hereditary Forms of Rickets

For some children, rickets is not a result of lifestyle or diet but is inherited. These conditions often involve faulty genes that affect how the body manages phosphate or vitamin D.

Hypophosphatemic Rickets (HR)

This group of disorders is characterized by low blood phosphate levels due to increased renal phosphate wasting. The most common form is X-linked hypophosphatemia (XLH), caused by mutations in the PHEX gene that lead to an overproduction of fibroblast growth factor 23 (FGF23), a hormone that causes phosphate excretion. Other types include:

Autosomal Dominant Hypophosphatemic Rickets (ADHR): Variable onset, caused by mutations in the FGF23 gene.
Autosomal Recessive Hypophosphatemic Rickets (ARHR): Rarer, caused by mutations in genes like DMP1 or ENPP1.
Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH): Caused by mutations in the SLC34A3 gene affecting renal phosphate transport.

Vitamin D-Dependent Rickets (VDDR)

VDDR is a rare hereditary condition caused by defects in vitamin D metabolism or the vitamin D receptor.

Type 1 (VDDR1): An autosomal recessive disorder where the kidneys cannot convert vitamin D to its active form due to a mutated CYP27B1 gene.
Type 2 (VDDR2): Another autosomal recessive disorder caused by mutations in the gene for the vitamin D receptor, rendering the body resistant to vitamin D's effects. VDDR2 can also cause hair loss (alopecia).

Other Diseases That Can Cause Rickets

Chronic Kidney Disease (Renal Rickets)

Chronic kidney disease (CKD) can lead to a type of rickets known as renal osteodystrophy. Damaged kidneys cannot properly activate vitamin D or excrete excess phosphate, resulting in complex mineral imbalances. Fanconi syndrome, a condition causing multiple renal tubular defects, can also lead to rickets.

Liver Disease

The liver performs the first step in converting vitamin D into its active form. Severe liver diseases, such as biliary atresia, can disrupt this process and lead to rickets.

Tumor-Induced Osteomalacia (TIO)

A very rare cause, TIO is a paraneoplastic syndrome where a typically benign tumor secretes excessive amounts of FGF23. This leads to severe hypophosphatemia and, in children, rickets. Complete surgical removal of the tumor is curative.

Rickets by Cause: A Comparison Table


Feature	Nutritional Rickets	Hypophosphatemic Rickets	Vitamin D-Dependent Rickets
Underlying Problem	Deficiency of vitamin D, calcium, or phosphorus.	Excessive renal phosphate wasting.	Impaired vitamin D activation or receptor resistance.
Typical Cause	Inadequate diet, lack of sun exposure.	Genetic mutation (e.g., PHEX gene in XLH).	Genetic mutation (e.g., CYP27B1 or VDR gene).
Primary Mineral Issue	Low calcium, low or normal phosphate.	Low phosphate.	Low calcium and phosphate.
PTH Levels	High (secondary hyperparathyroidism).	Normal or slightly elevated.	High (secondary hyperparathyroidism).
Treatment Focus	Vitamin D, calcium, and phosphorus supplementation.	Phosphate and active vitamin D analogs, and potentially FGF23 inhibitors like burosumab.	High-dose active vitamin D and/or calcium.

Conclusion

While nutritional deficiency is the most prevalent cause of rickets, the condition's etiology can vary widely, from common dietary shortcomings to complex genetic abnormalities and systemic diseases. A thorough diagnostic process is essential to pinpoint the specific cause, which in turn directs the correct treatment path. Ignoring underlying medical conditions in favor of simple vitamin D supplementation can be ineffective or even harmful, especially in cases of inherited rickets or organ-related issues. By understanding the diverse spectrum of diseases that cause rickets, medical professionals can provide appropriate and effective care to children afflicted by this bone-weakening disorder.

For more information on rickets and its causes, the National Library of Medicine offers resources on its website. Rickets - StatPearls - NCBI Bookshelf

Frequently Asked Questions

The most common cause of rickets worldwide is a deficiency in vitamin D, often resulting from insufficient sunlight exposure or inadequate dietary intake.

Yes, several forms of rickets are inherited, including various types of hypophosphatemic rickets and vitamin D-dependent rickets. These genetic disorders disrupt the body's ability to maintain healthy mineral levels.

Yes, chronic kidney disease can cause rickets, often called renal rickets or renal osteodystrophy. This happens because the kidneys are unable to activate vitamin D or manage phosphate levels properly.

Hypophosphatemic rickets is a group of rare disorders that lead to low blood phosphate levels, most commonly due to a genetic defect causing the kidneys to excrete too much phosphate.

Yes, severe liver disease can cause rickets because the liver performs the initial metabolic step in converting vitamin D to its active form. When this process is compromised, it leads to a vitamin D deficiency.

Rickets and osteomalacia both involve the softening of bones due to defective mineralization. The key difference is that rickets occurs in children while their growth plates are still open, whereas osteomalacia is the adult form of the condition.

In rare cases, a typically benign tumor can cause a condition called tumor-induced osteomalacia. The tumor produces an excess of a hormone called FGF23, which leads to severe phosphate wasting and causes rickets.