The National Organization for Rare Diseases of the UnitedStates classifies rare diseases as those who affect fewer than 200,000 people.As of now, there are more than 6,000 different types of medical conditionswhich can be deemed rare. There are more than 25 million American citizensaffected by rare diseases, which means that every tenth person gets diagnosedwith one of them.
Relevant Statistical Data
One of the most common rare bone diseases is fibrousdysplasia. According to certain estimates it occurs in one out of every 25,000people. These estimates cannot be more precise because there are also caseswhich are not diagnosed. Another relatively rare bone disease is osteoporosis.It affects every third woman and every fifth man who are over 50 years old.
List of Rare Bone Diseases
As explained earlier, fibrous dysplasia is one of the mostcommon rare bone diseases. It may occur in any bone in the human body and therange of severity by which it can be characterized is rather wide. It may gounnoticed for years by affecting a singular bone, or it may occur very earlyand affected virtually all bones in the body. The cause of this peculiarmedical condition is a defective gene in the cells which are responsible forthe formation of the bones. Contrary to the popular belief, fibrous dysplasiais not a hereditary medical condition. The most common symptoms includefrequent fractures, painful sensations, bowing and weakening of the bones.There is no specific treatment for this medical condition and most cases areresolved with surgical interventions. Another rare bone disease is known aslymphangiomatosis. It involves the development of lymphangiomas in varioussystems of the body including the skeletal one. These are known forobstructing, compressing and even destroying certain vital structures insidethe human body. They are not malignant but they are quite hard and challengingwhen it comes to the treatment methods. The causes of this medical conditionare completely unknown. Another rare musculoskeletal medical condition isreferred to as Gorham’s disease. It is characterized by progressive andspontaneous resorption of the bones inside the human body. As is the case withmost rare bone disease, the exact causes of Gorham’s disease are largelyunknown. All medical interventions for Gorham’s disease and lymphangiomatosis arestill considered to be extremely experimental, as there are no studies to backthem up. Another rare bone disease is a genetic type of disorder which ismedicinally referred to as fibrodysplasia ossificans progressive. This medicalcondition involves the formation of bones in the ligaments, tendons, musclesand other sorts of connective tissues. A very restricted movement is alsoassociated with this medical condition. Multiple hereditary exostoses isanother rare bone disease, but some sources refer to it as multipleosteochondromas. It is a genetic type of disorder which involves thedevelopment of benign tumors which are capped by cartilage and tend to groweither outward from the metaphyses of certain long bones, from the growthplates of flat bones or even from the very surface of the flat bones inside thehuman body. This medical condition may involve a vast array of differentdegrees of severity. In some cases there may be only two tumors present whilesome severe cases may involve hundreds of them. These tumors may be associatedwith a large number of medical complications such as the development ofmalignant tumor transformation, early onset of arthritis, mobility issues,chronic fatigue, chronic painful sensations, limb length discrepancy, shortstature, skeletal deformity, loss of motion, irritation of muscles and tendonsand compression of peripheral blood vessels and nerves. In most cases, numeroussurgical interventions are required so that the tumors can be removed. Physicaltherapy and pain management may be helpful in some cases as well. The conditionis commonly caused by mutations in certain genes. One of the rarest bone diseasesis melorheostosis. It affects one in a million persons. It is a progressive bonedisease which involves thickening of the bones which also has certain effectsand the skin, the soft tissue and the joints. This medical condition is knownfor being associated with further medical complications such as foot deformity,hand deformity, limb deformity, malformed or immobilized ligaments, tendons orjoints, extensive pain and severe functional limitations. Osteopetrosis is amedical condition which is characterized by overly dense bones and it has threedifferent ranges of severity. It commonly involves strokes, deafness,blindness, infections and fractures. Osteogenesis imperfecta is commonlyreferred to as the brittle bone disorder and it is characterized by bones thatbreak too easily. Another rare bone disease is called Paget’s disease and itinvolves the growth of bones which are simply too large and too weak for theirown size. Other rare bone diseases include primary hyperparathyroidism and XLH.