Your bones support your movements. However, with age, the cartilage and other structures surrounding your bones can wear. When that happens, your bone’s strength and flexibility are compromised. An orthopedic doctor in Mumbai can offer treatments based on the severity of the bone damage.
Let’s take a look at some rare bone diseases.
List of 20 Rare Bone Diseases
- Paget’s Disease: It’s a rare bone disease that causes the bones to enlarge, resulting in frequent fractures and deformities.
- McCune-Albright Syndrome: This bone disease affects skin, bones, and the endocrine system. It causes bone lesions, skin pigmentation, and other symptoms.
- Gorham-Stout Disease: Also called vanishing bone disease, Gorham-Stout Disease is characterized by rapid bone destruction. The most commonly affected bones include those of the shoulders, pelvic girdle, ribs, and skull.
- Kyphomelic Dysplasia: Kyphomelic Dysplasia causes skeletal abnormalities like short stature, bowed limbs, and spinal issues.
- Trichorhinophalangeal Syndrome: The disease causes craniofacial and skeletal deformities.
- Hypophosphatasia (HPP): Hypophosphatasia is a metabolic bone disease that causes bone weakening. People with this rare bone disease might lose their teeth earlier than normal.
- Fibrodysplasia Ossificans Progressiva (FOP): It’s a genetic bone disease that causes muscles, tendons, and ligaments to form into bones. It creates bone overgrowth in random places, making movements difficult.
- Camurati-Engelmann Disease: An increased bone density can cause bone overgrowth, particularly in the larger bones, including your skull, legs, and arms.
- Spondyloepiphyseal Dysplasia Congenita (SEDC): It’s marked by unusual bone growth, which ultimately leads to dwarfism.
- Hajdu-Cheney Syndrome: It’s marked by severe bone loss, caused mainly by mutations in the NOTCH2 gene.
- Osteogenesis Imperfecta: Another genetic disorder that results in bone fractures with little or no trauma. People with Osteogenesis Imperfecta have weakened bones that tend to get damaged easily.
- Melorheostosis: Melorheostosis is the unusual growth of bones on top of healthy bones. This causes thicker and wider bones.
- Pycnodysostosis: It’s a genetic bone disease that causes abnormal facial features, short stature, and other bone issues.
- Maffucci Syndrome: Formation of many benign tumors in your bones, which can cause skeletal deformities.
- Trevor’s Disease: Trevor’s disease is an unusual yet painful cartilage overgrowth in your bones.
- Langer-Giedion Syndrome: This bone disease results from the deletion of Chromosome 8, which results in unusual facial features, short fingers and toes, and intellectual disability.
- Multiple Osteochondromas: It’s characterized by the growth of benign bone tumors that make movements difficult and painful.
- Ellis-Van Creveld Syndrome: This genetic disease occurs due to mutation in EVC or EVC2 genes. It causes short-limbed dwarfism.
- Bruck Syndrome: It’s an autosomal recessive disorder that leads to fragile bones and frequently occurring bone fractures.
- Cleidocranial Dysplasia (CCD): Changes in the RUNX2 gene can affect teeth and bone development, leading to Cleidocranial Dysplasia (CCD)
Conclusion
You must be familiar with common bone issues, like fractures and osteoporosis, but bone diseases go beyond that. Many rare bone diseases can affect your ability to walk, sit, or perform daily tasks. Depending on the severity of the issue, some conditions can get better with bone disease treatment in Mumbai, while others are irreversible.
