Researchers in India studied 218 people with rare bone diseases that affect how bones grow and stay strong. These diseases are uncommon, affecting fewer than 5 in 10,000 people, but they can cause serious problems like broken bones and bone deformities. The study looked at 29 different rare bone diseases and found that rickets (soft bones) was most common, followed by a condition called osteogenesis imperfecta where bones break easily. By testing patients’ genes, doctors confirmed what causes many of these diseases. The research shows doctors are using different treatments like special medicines and vitamin D to help patients, and this information could help doctors recognize and treat these rare conditions better.

The Quick Take

  • What they studied: What rare bone diseases look like, how often they happen, what causes them, and how doctors treat them
  • Who participated: 218 people (about equal numbers of men and women) with an average age of 29 years who had rare bone diseases. These were people from India registered in a special database between 2010 and 2024
  • Key finding: Doctors found 29 different rare bone diseases. The most common was rickets (a disease that makes bones soft and weak), affecting 27% of patients. More than half the patients (58%) had broken bones, and some had broken bones multiple times
  • What it means for you: If you or someone you know has unusual bone problems that doctors can’t easily explain, this research shows there are specific rare diseases to consider. Genetic testing can help identify the exact cause, which helps doctors choose the right treatment. However, these findings mainly apply to people with confirmed rare bone diseases, not common bone problems

The Research Details

This was a registry study, which means researchers collected information from a special database that tracks patients with rare bone diseases in India over 15 years (2010-2024). They gathered information about how patients presented with symptoms, their age and gender, what tests showed, and what treatments doctors used. For some patients, doctors performed genetic testing (looking at their DNA) to find the specific gene changes causing their disease. The researchers organized all 29 rare bone diseases into four main groups based on what was wrong with the bones: diseases where bones became too soft, diseases affecting bone structure, diseases where bones became too hard, and diseases that didn’t fit neatly into other categories.

Rare bone diseases are hard to diagnose because doctors don’t see them often. By collecting information from many patients over many years, researchers can recognize patterns and help doctors identify these diseases faster. Understanding the genetic causes helps doctors explain to families why the disease happened and what might happen in the future. This type of registry study is especially important for rare diseases because no single hospital sees enough patients to understand them well

This study is reliable because it used a well-organized database that specifically tracks rare bone diseases. The researchers looked at real patient records over 15 years, which gives a good picture of these diseases. Genetic testing confirmed the causes in several cases, which strengthens the findings. However, the study only included patients from India who were registered in this database, so the results might not apply to all populations worldwide. The study is descriptive (describing what they found) rather than testing whether a treatment works better than another

What the Results Show

The study identified 29 different rare bone diseases in 218 patients. Half of all patients (50.4%) had demineralization disorders, meaning their bones didn’t have enough minerals and became weak. About one-third (32.5%) had problems with how bone material formed, and 13.7% had diseases where bones became too dense and hard. Rickets and osteomalacia (soft bones) was the most common disease, found in 27.1% of patients. Osteogenesis imperfecta (brittle bone disease) was second at 23.4%, and fibrous dysplasia was third at 18.8%. The gender split was almost equal, with slightly more women than men affected. The average age was 29 years, but patients ranged from young children to older adults.

Broken bones were very common in this group: 57.7% of patients had at least one fracture, and 24.5% had multiple fractures. Bone deformities (unusual bone shapes) affected 31.1% of patients. Genetic testing revealed specific gene mutations in several patients that confirmed diagnoses like sclerosteosis, Camurati-Engelmann disease, hypophosphatemic rickets, hypophosphatasia, and IBMPFD. These genetic findings help explain why some families have these diseases and can guide treatment decisions

This study adds important information to what doctors already know about rare bone diseases. Previous research identified these diseases individually, but this registry brings together information about many rare bone diseases in one place. The finding that rickets is most common among rare bone diseases in India may differ from other countries, suggesting that different rare bone diseases are more or less common in different populations. The genetic findings confirm what smaller studies have shown about the causes of specific rare bone diseases

This study only included patients registered in an Indian database, so results may not apply to other countries or populations. The study describes what doctors found but doesn’t compare different treatments to see which works best. Some patients may not have had genetic testing, so the true genetic causes might be different. The study relied on information already in the database, so some details about patient symptoms or treatment outcomes might be incomplete. Because rare diseases are uncommon, the total number of patients (218) is still relatively small for drawing very broad conclusions

The Bottom Line

If you have unexplained bone problems like frequent fractures, soft bones, or unusual bone shapes, ask your doctor about rare bone diseases and whether genetic testing might help identify the cause (moderate confidence). Treatment should be personalized based on the specific disease, which may include vitamin D, calcium, special medicines like bisphosphonates, or other treatments (moderate confidence). Regular monitoring by a bone specialist is important for managing these diseases and preventing complications (moderate confidence)

People with unexplained bone problems, families with a history of rare bone diseases, and doctors who treat bone diseases should pay attention to this research. Parents of children with unusual bone symptoms should consider asking about rare bone diseases. This research is less relevant for people with common bone problems like regular osteoporosis or normal broken bones from accidents

Seeing improvement from treatment depends on the specific disease and treatment chosen. Some treatments like vitamin D may show effects within weeks to months. Bone-strengthening treatments may take several months to show benefits. Preventing future fractures is an ongoing process that requires consistent treatment and monitoring over years

Want to Apply This Research?

  • If you have a rare bone disease, track fractures and bone pain weekly using a simple log: date, location of pain/fracture, severity (1-10 scale), and what you were doing when it happened. This helps you and your doctor see patterns and whether treatment is working
  • Work with your doctor to set up a daily routine for taking prescribed treatments (vitamin D, calcium, or medicines). Use app reminders for medication times and track whether you took it. Also log any physical activities that might affect your bones, like exercise or falls
  • Every month, review your fracture and pain logs to see if there are improvements or new problems. Share this information with your bone doctor at appointments. Track your ability to do daily activities (walking, climbing stairs, lifting) to see if bone strength is improving. If you notice new symptoms or more fractures, contact your doctor promptly

This research describes rare bone diseases and their characteristics but does not provide medical advice. If you suspect you have a rare bone disease, consult with a qualified healthcare provider or bone specialist for proper diagnosis and treatment. Genetic testing and specific treatments should only be pursued under medical supervision. This study was conducted in India and results may not apply to all populations. Always discuss any bone health concerns with your doctor before making changes to your treatment plan.