Rickets is a bone disease that affects children when their bodies can’t properly build strong bones. This happens because of problems with vitamin D, calcium, or phosphorus—nutrients bones need to grow. Researchers studied 16 children with genetic rickets (a type you inherit from your parents) over many years to understand how the disease starts, what signs to look for, and how well treatment works. They found that children usually show symptoms around age 3, with bent legs being the most common sign. Understanding these patterns helps doctors diagnose and treat the condition earlier, which can lead to better outcomes as children grow up.

The Quick Take

  • What they studied: How genetic rickets (a bone disease passed down through families) affects children, what symptoms appear, and how well treatment works over many years
  • Who participated: 16 children diagnosed with genetic rickets who were treated at a children’s hospital in Turkey between 2010 and 2024. Most had one of three types of genetic rickets.
  • Key finding: Children with genetic rickets typically show bent legs and delayed walking around age 3. With proper treatment, most children grew to an average final height of about 4'8", though this is shorter than average. Two children developed kidney calcium deposits during follow-up.
  • What it means for you: If your child has genetic rickets, early diagnosis and consistent treatment are important. While children may be shorter than average, proper medical care can help them reach their best possible height. Talk to your doctor about regular monitoring, especially for kidney health.

The Research Details

This study looked back at medical records of 16 children who had been treated for genetic rickets over a 14-year period. The researchers collected information about how the children first presented with symptoms, what their blood tests showed, genetic test results, and how they responded to treatment over time. They followed these children for an average of 6.6 years, tracking their growth, bone health, and any complications that developed.

The study focused on three types of genetic rickets: vitamin D-dependent rickets type 1 (6 children), vitamin D-dependent rickets type 2 (2 children), and hypophosphatemic rickets (8 children). Each type happens because of different genetic problems that affect how the body handles vitamin D, calcium, or phosphorus. The researchers reviewed all the clinical notes, lab results, and imaging studies to create a detailed picture of each child’s journey.

By carefully reviewing the long-term medical records of children with genetic rickets, doctors can better understand what to expect and how to help. This type of study is valuable because genetic rickets is rare, so it’s hard to study many patients at once. Looking back at real patient experiences helps doctors recognize the disease earlier and understand which treatments work best over time.

This study has some important limitations to understand. It’s a small group (only 16 children), so the findings may not apply to all children with genetic rickets. It’s also a retrospective study, meaning doctors looked back at old records rather than following new patients forward. Only 4 of the 16 children had reached their final adult height when the study ended, so we have limited information about long-term growth outcomes. However, the study does provide valuable real-world experience from a specialized children’s hospital with experienced doctors.

What the Results Show

The most common way genetic rickets showed up in these children was through bent or curved legs (genu varum or genu valgum), which happened in almost all patients. The second most common sign was delayed walking—children started walking later than expected. About half the children also had growth retardation, meaning they were shorter than other children their age. Some children experienced hair loss (alopecia), which is an unusual sign of this disease.

Children were diagnosed at an average age of 3.5 years old, though some were diagnosed much earlier or later. When doctors examined the children, they found short stature, widened joints, and the characteristic bent legs. The genetic testing confirmed the diagnosis in 14 of the 16 children, identifying the specific genetic mutations causing their rickets.

During treatment and follow-up, most children responded to medical therapy. The four children who reached their final adult height averaged about 4'8" (142 cm), which is shorter than average but represents successful treatment. Two children developed nephrocalcinosis (calcium deposits in the kidneys) during the follow-up period, which required additional monitoring.

Beyond the main findings, the study showed that the three types of genetic rickets had somewhat different presentations and courses. Children with hypophosphatemic rickets made up half the group and had their own specific pattern of symptoms. The study also documented that consistent medical follow-up and treatment were important for managing the disease, though some complications like kidney calcium deposits could still develop even with treatment.

This study confirms what previous research has shown about genetic rickets—that bent legs and growth problems are the main signs, and that early diagnosis and treatment are important. The findings about final height being shorter than average match what other studies have reported. The observation of kidney calcium deposits in some patients is consistent with known complications of certain types of genetic rickets, particularly with vitamin D-dependent rickets type 1.

This study is small with only 16 children, so the results may not apply to all children with genetic rickets worldwide. Only 4 children had reached their final adult height when the study ended, so we don’t have complete information about how tall all the children will be as adults. The study looked back at old medical records, which means some information might be incomplete or recorded differently over time. The study was done at one hospital in Turkey, so the results might be different in other countries or populations. Finally, the study doesn’t compare different treatment approaches, so we can’t say which treatments work best.

The Bottom Line

If your child shows signs of genetic rickets (bent legs, delayed walking, or short stature), seek evaluation from a pediatric endocrinologist or bone specialist. Early diagnosis and consistent treatment with vitamin D, calcium, phosphorus, or other medications (depending on the type) are important. Regular blood tests and imaging studies help monitor how well treatment is working. Kidney function should be monitored regularly, especially in children with vitamin D-dependent rickets type 1. These recommendations are based on this study and consistent with medical guidelines, though more research is needed to optimize treatment for each type of genetic rickets.

Parents of children with genetic rickets or suspected bone disease should pay close attention to this research. Children showing signs of bent legs, delayed walking, or short stature should be evaluated. Pediatricians and specialists caring for children with metabolic bone diseases will find this information helpful. Family members of children with genetic rickets may also want to understand the condition better, as it’s inherited. This research is less relevant for people without genetic rickets or family history of the condition.

Children with genetic rickets typically show symptoms by age 3-4 years old. With proper treatment started early, children can see improvement in bone health within months, though bent legs may take longer to straighten. Final height is reached in late teenage years (around age 15-18). The long-term effects of treatment may take years to fully understand, which is why regular follow-up appointments are important.

Want to Apply This Research?

  • Track your child’s height and weight monthly using the app’s growth chart feature. Compare measurements to growth curves for children with genetic rickets to monitor treatment effectiveness. Also track medication adherence (vitamin D, calcium, phosphorus supplements) and appointment dates for blood tests and imaging studies.
  • Set reminders for daily medication doses and weekly supplement schedules. Use the app to log when medications are taken and any side effects noticed. Schedule and track regular doctor visits and lab work. Record any new symptoms like joint pain or changes in leg appearance to discuss with your doctor.
  • Create a long-term tracking dashboard showing height trends over months and years, medication compliance rates, and lab result trends (calcium, phosphorus, vitamin D levels). Set alerts for upcoming appointments and lab work. Use the app to maintain a symptom diary noting any changes in mobility, pain, or physical appearance. Share reports with your child’s doctor at each visit to ensure coordinated care.

This research describes the experiences of 16 children with genetic rickets at one hospital. Genetic rickets is a serious medical condition that requires professional diagnosis and treatment by qualified healthcare providers. This information is educational and should not replace medical advice from your child’s doctor. If you suspect your child has rickets or bone problems, consult a pediatrician or pediatric endocrinologist immediately. Treatment plans must be individualized based on the specific type of rickets, genetic testing results, and your child’s unique medical situation. Regular medical monitoring and follow-up are essential for managing this condition safely and effectively.