What Is Rickets? Symptoms, Causes of Rickets, and the Most Effective Treatment Options

What is Rickets?

What is rickets? Rickets is a childhood bone disorder caused by a long-term deficiency in vitamin D, calcium, or phosphate. It leads to weakened and softened bones, resulting in skeletal deformities and growth issues. Understanding the causes of rickets, such as poor nutrition, lack of sunlight exposure, or malabsorption disorders, is key to prevention and early diagnosis. Recognizing rickets symptoms—like bowed legs, bone pain, delayed growth, or dental issues—can help parents and caregivers act quickly. Early intervention with proper treatment for rickets, including vitamin D supplementation, dietary changes, and sometimes physical therapy, can reverse or greatly reduce complications. In this article, we explore in detail what rickets is, why it occurs, the most common symptoms to look out for, and proven treatment strategies that support healthy bone development in children.

From a biomechanical perspective, rickets disrupts the normal process of bone ossification. In healthy bone development, osteoblasts lay down a matrix that is subsequently mineralized with calcium and phosphate. In rickets, the lack of essential nutrients prevents proper mineralization, leading to the accumulation of unmineralized osteoid tissue. This results in bones that are structurally weak and prone to deformities under mechanical stress, especially in weight-bearing bones like the legs.

Anatomically, rickets most significantly impacts the growth plates (epiphyseal plates) at the ends of long bones. The zones of proliferating cartilage in these plates become widened and irregular due to defective mineralization. Key skeletal areas affected include:

• Long bones (femur, tibia), leading to leg bowing.
• Rib cage, resulting in a “rachitic rosary” where costochondral joints enlarge.
• Skull bones, leading to softening known as craniotabes.
• Pelvic bones, which may become flattened or misshapen.

The combination of poor bone strength and altered growth plate function leads to the characteristic deformities seen in children with rickets.

Incidence

Rickets remains a significant global health issue, particularly in regions with limited access to sunlight or insufficient dietary intake of vitamin D and calcium. Although its prevalence has decreased in many developed countries due to food fortification and public health campaigns, it continues to affect millions of children worldwide.

The highest incidence of rickets is observed in:

• Infants and toddlers aged 6 months to 3 years, during periods of rapid bone growth.
• Breastfed infants who do not receive adequate vitamin D supplementation, as breast milk contains low levels of vitamin D.
• Populations living in northern latitudes with limited sunlight exposure, particularly during winter months.
• Communities with cultural practices that limit sun exposure (e.g., wearing full-body coverings) or individuals with darker skin tones, which reduces the skin’s ability to synthesize vitamin D.
• Certain developing countries, where malnutrition and limited access to fortified foods contribute to higher prevalence rates.

Global studies estimate that 2-3% of children in high-risk populations show clinical signs of rickets, with subclinical deficiencies affecting an even larger percentage.

Risk Factors

Several risk factors increase the likelihood of developing rickets, primarily related to nutritional deficiencies, environmental factors, and certain medical conditions.

Vitamin D Deficiency

Vitamin D plays a crucial role in calcium and phosphate metabolism. A lack of vitamin D impairs calcium absorption from the intestines, leading to hypocalcemia and defective bone mineralization. Risk factors for vitamin D deficiency include:

• Limited sun exposure due to geographical location or cultural practices.
• Use of high SPF sunscreens that block UVB rays necessary for vitamin D synthesis.
• Darker skin pigmentation, which reduces the skin’s capacity to produce vitamin D.

Calcium Deficiency

Inadequate dietary calcium intake can directly impair bone mineralization, even when vitamin D levels are sufficient. Populations consuming diets low in dairy products or those following strict vegan diets without supplementation are particularly at risk.

Phosphate Deficiency

Though less common, phosphate deficiency can also lead to rickets. Certain genetic disorders, such as X-linked hypophosphatemic rickets, impair phosphate reabsorption in the kidneys, leading to hypophosphatemia and bone demineralization.

Malabsorption Syndromes

Medical conditions that interfere with nutrient absorption can contribute to rickets. These include:

• Celiac disease, where gluten-induced inflammation damages the intestinal lining.
• Inflammatory bowel disease (e.g., Crohn’s disease), which affects the gut’s ability to absorb nutrients.
• Chronic liver or kidney diseases, which impair vitamin D metabolism.

Premature Birth

Premature infants are at higher risk of rickets due to underdeveloped vitamin D stores and increased calcium needs for postnatal bone growth. These infants often require supplementation to prevent metabolic bone disease.

Symptoms

The symptoms of rickets vary based on the severity and duration of the deficiency but generally revolve around skeletal deformities, growth disturbances, and muscle weakness.

Bone Pain and Tenderness

Children with rickets often experience bone pain, particularly in weight-bearing areas such as the legs, pelvis, and spine. The pain is due to defective mineralization, which increases bone fragility and susceptibility to microfractures.

Skeletal Deformities

The hallmark feature of rickets is skeletal deformities caused by the inability of softened bones to withstand normal mechanical forces. Common deformities include:

• Bowed legs (genu varum) or knock knees (genu valgum), depending on the child’s age and developmental stage.
• Rachitic rosary, a visible enlargement of the costochondral junctions in the rib cage.
• Craniotabes, characterized by soft skull bones that yield to pressure.
• Pectus carinatum (pigeon chest), where the sternum protrudes outward.

Delayed Growth and Development

Rickets can significantly impact a child’s growth trajectory. Affected children may exhibit short stature, delayed sitting or crawling, and, in severe cases, delayed walking. Inadequate bone strength leads to difficulties in bearing weight and maintaining balance.

Muscle Weakness and Hypotonia

Vitamin D deficiency impacts muscle function, leading to muscle weakness and hypotonia (reduced muscle tone). Children may struggle with motor skills and exhibit a waddling gait due to weakened pelvic and lower limb muscles.

Dental Problems

Rickets can also affect dental development, resulting in:

• Delayed tooth eruption.
• Increased risk of dental caries and enamel hypoplasia.
• Structural abnormalities in the jaw, contributing to misaligned teeth.

Recognizing these symptoms early is crucial for initiating effective treatment and preventing long-term complications.

Diagnosis

The diagnosis of rickets involves a comprehensive approach that includes a detailed medical history, a thorough clinical examination, and specific diagnostic tests to confirm the condition and identify its underlying cause.

Medical History (Anamnesis)

A detailed medical history is the first step in diagnosing rickets. Physicians focus on understanding the child’s dietary habits, sun exposure, and any history of illnesses that could affect nutrient absorption. Important aspects of anamnesis include:

• Nutritional intake: Evaluating if the child receives adequate amounts of vitamin D, calcium, and phosphate through diet.
• Sun exposure: Understanding the amount of daily sunlight the child receives, as vitamin D synthesis primarily occurs through skin exposure to UVB rays.
• Family history: Identifying any genetic conditions, such as X-linked hypophosphatemic rickets, that may predispose the child to developing rickets.
• Medical conditions: Reviewing any gastrointestinal, renal, or hepatic disorders that may interfere with the metabolism or absorption of essential nutrients.

Clinical Examination

A physical examination focuses on identifying classic signs of rickets and assessing the severity of skeletal deformities. Physicians typically evaluate:

• Bone deformities: Noting bowing of the legs (genu varum), knock-knees (genu valgum), or other skeletal abnormalities such as a protruding sternum (pectus carinatum) and soft skull bones (craniotabes).
• Growth patterns: Measuring height and weight to assess for growth delays or failure to thrive.
• Muscle strength: Evaluating for muscle weakness and hypotonia, which are common in children with rickets.
• Dental health: Checking for delayed tooth eruption and enamel defects.

Laboratory Tests

To confirm the diagnosis, specific blood tests are ordered to assess key biochemical markers:

• Serum calcium and phosphate: Typically, hypocalcemia (low calcium) and hypophosphatemia (low phosphate) are present.
• Alkaline phosphatase (ALP): Elevated levels indicate increased bone turnover, a hallmark of rickets.
• Parathyroid hormone (PTH): Often elevated due to secondary hyperparathyroidism triggered by hypocalcemia.
• 25-hydroxyvitamin D [25(OH)D]: This is the most accurate marker for assessing vitamin D status. Levels below 20 ng/mL are considered deficient.

Imaging Studies

Radiographic imaging is crucial for visualizing bone abnormalities typical of rickets. X-rays of the wrists and knees, where growth plates are most active, often reveal:

• Widened growth plates.
• Metaphyseal cupping and fraying.
• Bone demineralization.

In complex cases, additional imaging like DEXA scans or MRI may be used to assess bone density and structure.

Treatment and Prevention

Effective treatment and prevention of rickets focus on correcting underlying nutrient deficiencies, addressing skeletal deformities, and implementing strategies to prevent future cases.

Nutritional Supplementation

The cornerstone of rickets treatment is replenishing vitamin D, calcium, and, in some cases, phosphate levels.

• Vitamin D supplementation is essential for restoring bone health. According to global consensus guidelines (Munns et al., 2020), the recommended therapeutic dose for nutritional rickets is 2,000–6,000 IU/day of vitamin D for 6–12 weeks, followed by a maintenance dose of 400–1,000 IU/day.
• Calcium supplementation is equally important. Children with rickets should receive 500–1,000 mg/day of calcium, either through diet or supplements.
• In cases of hypophosphatemic rickets, treatment includes oral phosphate supplements combined with active forms of vitamin D like calcitriol (https://doi.org/10.3389/fendo.2024.1383681).

Pharmacological Treatments

For specific forms of rickets, targeted therapies may be necessary:

• Burosumab, a monoclonal antibody, has emerged as a promising treatment for X-linked hypophosphatemic rickets. It works by inhibiting FGF23, a hormone that reduces phosphate levels (https://doi.org/10.3389/fendo.2024.1383681).
• Calcitriol or alfacalcidol may be prescribed in cases of renal rickets or vitamin D-resistant rickets to enhance calcium absorption.

Orthopedic Management

Severe skeletal deformities may require orthopedic intervention:

• Bracing can help correct mild to moderate deformities, especially in growing children.
• Surgical procedures, such as osteotomy, may be necessary in cases with significant bone bowing or structural abnormalities that impair mobility.

Physical Therapy

Physical therapy plays a crucial role in strengthening muscles, improving posture, and correcting gait abnormalities caused by skeletal deformities. Therapists focus on:

• Strengthening exercises to improve muscle tone.
• Range-of-motion exercises to enhance joint flexibility.
• Gait training to promote proper walking patterns.

Preventive Strategies

Preventing rickets involves ensuring children receive adequate vitamin D and calcium, along with appropriate sun exposure.

• Vitamin D supplementation is recommended for all breastfed infants, starting at 400 IU/day within the first few days after birth (Munns et al., 2020).
• Dietary intake should include vitamin D-fortified foods, such as milk, cereals, and fatty fish.
• Safe sun exposure is vital. Experts recommend 10–15 minutes of sun exposure to the face, arms, and legs several times a week, depending on skin pigmentation and geographical location.

Public Health Measures

Public health initiatives have significantly reduced the prevalence of rickets in many countries. These include:

• Fortification programs: Many governments mandate fortification of foods like milk and cereals with vitamin D.
• Educational campaigns: Promoting awareness about the importance of vitamin D and safe sun exposure helps prevent rickets in at-risk populations.
• Screening programs: In high-risk groups, such as premature infants or children with chronic illnesses, routine screening for vitamin D deficiency can aid in early detection and prevention.

Physiotherapy and Rickets

Physiotherapy can play a crucial role in supporting the treatment of rickets by helping children improve muscle strength, mobility, and posture. While physiotherapy cannot cure rickets, it may assist in managing some symptoms and improving the child’s overall functional abilities.

Note: The following treatment recommendations are provided by a certified physiotherapist and kinesiologist and are intended solely for informational purposes to support the treatment of rickets. However, each case is unique. It is strongly recommended to consult a qualified doctor or physiotherapist for an accurate diagnosis and to develop an individualized treatment plan tailored to your needs.

Benefits of Physiotherapy for Rickets

• Improves muscle strength: Rickets often causes muscle weakness. Strengthening exercises can help children develop better posture and support their growing bones.
• Enhances mobility and balance: Physiotherapy can assist in improving coordination and gait patterns, especially if the child experiences skeletal deformities like bowed legs.
• Supports proper posture: Postural training can help correct imbalances that develop due to bone deformities, reducing strain on muscles and joints.

Example Exercises for Children with Rickets

These exercises are designed to help improve strength and mobility. Always consult a physiotherapist before starting any exercise program.

Glute Bridge

• Purpose: Strengthens the gluteal muscles and lower back.
• How to perform: Have the child lie on their back with knees bent and feet flat on the floor. Encourage them to lift their hips upward, squeezing the glutes, and hold for five seconds before lowering.

Standing Calf Raises

• Purpose: Strengthens the calf muscles and improves balance.
• How to perform: The child stands with feet hip-width apart and slowly rises onto the balls of the feet, holding the position for a few seconds before lowering.

Seated Hamstring Stretch

• Purpose: Increases flexibility in the hamstrings.
• How to perform: The child sits on the floor with legs extended. They gently lean forward, reaching towards their toes, keeping the knees straight but not locked.

Balance on One Leg

• Purpose: Improves proprioception and balance.
• How to perform: Have the child stand on one foot for as long as possible, aiming for 30 seconds. This can be made more fun by incorporating a game or using a soft surface.

These exercises can help improve strength, mobility, and balance, but results may vary depending on the child’s individual condition.

How Can Parents Help Their Child?

Parents play a significant role in supporting their child’s recovery from rickets. While physiotherapy and medical treatment are essential, several strategies may help improve the child’s overall well-being.

Ensure Proper Nutrition

A balanced diet rich in vitamin D, calcium, and phosphate is crucial. Foods such as dairy products, fatty fish, and fortified cereals may help support bone health. If necessary, consult with a healthcare provider about supplements.

Encourage Safe Sun Exposure

Vitamin D is naturally synthesized when the skin is exposed to sunlight. Allowing the child to play outdoors for 10–15 minutes daily (while following sun safety guidelines) may help increase vitamin D levels.

Promote Regular Physical Activity

Engaging in gentle exercises or outdoor activities can strengthen muscles and bones. Activities like walking, swimming, or guided play may provide added benefits without placing excessive strain on the bones.

Monitor Growth and Development

Regular check-ups with a pediatrician or physiotherapist can help monitor the child’s progress and adjust treatment plans as needed. Early intervention can often prevent complications.

Provide Emotional Support

Children with rickets may face physical limitations or social challenges. Providing emotional support and encouragement is crucial for building their confidence and motivation during recovery.

Frequently Asked Questions

What causes rickets in children?

Rickets is typically caused by a deficiency of vitamin D, calcium, or phosphate, leading to weakened bones. Lack of sun exposure and poor diet are common contributing factors.

Can rickets be cured completely?

With early diagnosis and proper treatment, including vitamin D supplementation, dietary changes, and physiotherapy, many cases of rickets can be successfully managed, and bone health restored.

How long does it take to recover from rickets?

Recovery time varies depending on the severity of the condition and adherence to treatment. Some children show improvement within a few weeks, while others may need several months.

Is physiotherapy necessary for all children with rickets?

While not always mandatory, physiotherapy can be beneficial for improving muscle strength, mobility, and posture, especially in cases with skeletal deformities or muscle weakness.

Can adults develop rickets?

Rickets primarily affects children. However, a similar condition called osteomalacia can occur in adults, leading to bone softening due to vitamin D deficiency.

Sources

1. Chanchlani, R., Nemer, P., Sinha, R., Nemer, L., Krishnappa, V., Sochett, E., Safadi, F., & Raina, R. (2020). An Overview of Rickets in Children. Kidney International Reports, 5(7), 980–990. https://doi.org/10.1016/j.ekir.2020.03.025
2. Baroncelli, G. I., Comberiati, P., & SIEDP Bone and Mineral Metabolism Group. (2024). Diagnosis, Treatment, and Management of Rickets: A Position Statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology. Frontiers in Endocrinology, 15, 1383681. https://doi.org/10.3389/fendo.2024.1383681
3. Munns, C. F., Shaw, N., Kiely, M., Specker, B. L., Thacher, T. D., Ozono, K., Michigami, T., Tiosano, D., Mughal, M. Z., Mäkitie, O., Ward, L., DeLuca, H. F., Pludowski, P., Maddock, J., Hyppönen, E., Končar, Z., Pal, B. R., Seth, A., Gilli, G., … & Butler, G. (2020). Global Consensus Recommendations on Prevention and Management of Nutritional Rickets. The Journal of Clinical Endocrinology & Metabolism, 105(11), e3706–e3724. https://doi.org/10.1210/clinem/dgaa734