An OI diagnosis can be confirmed through DNA or collagen testing, but in many cases the occurrence of bone fractures with little trauma and the presence of other clinical features such as blue sclera are sufficient for a diagnosis. A skin biopsy can be performed to determine the structure and quantity of type I collagen. DNA testing can confirm the diagnosis, however, it cannot exclude it because not all mutations causing OI are known and/or tested for. OI type II is often diagnosed by ultrasound during pregnancy, where already multiple fractures and other characteristic features may be present. Relative to control, OI cortical bone shows increased porosity, canal diameter, and connectivity in micro-computed tomography.

An important differential diagnosis of OI is child abuse, as both may present with multiple fractures in various stages of healing. Differentiating them can be difficult, especially when no other characteristic features of OI are present. Other differential diagnoses include rickets, osteomalacia, and other rare skeletal syndromes.

More than 1 in 2 people with OI also have dentinogenesis imperfecta (DI) - a congenital disorder of formation of dentine. Dental treatment may pose as a challenge as a result of the various deformities, skeletal and dental, due to OI. Children with OI should go for a dental check-up as soon as their teeth erupt, this may minimize tooth structure loss as a result of abnormal dentine, and they should be monitored regularly to preserve their teeth and oral health.

X-Ray

Bubbly lytic lesion / Ground glass

Imaging tests. Computerized tomography or magnetic resonance imaging scans may be used to determine how extensively your bones are affected.

Bone scan. This test uses radioactive tracers, which are injected into your bloodstream. The damaged parts of your bones take up more of the tracers, which show up more brightly on the scan.

Biopsy. This test uses a hollow needle to remove a small piece of the affected bone for laboratory analysis.

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

There is no cure, although curative therapy with bone marrow transplantion is being investigated in clinical trials. It is believed the healthy marrow will provide the sufferer with cells from which osteoclasts will develop. If complications occur in children, patients can be treated with vitamin D. Gamma interferon has also been shown to be effective, and it can be associated to vitamin D. Erythropoetin has been used to treat any associated anemia. Corticosteroids may alleviate both the anemia and stimulate bone resorption. Fractures and osteomyelitis can be treated as usual. Treatment for osteopetrosis depends on the specific symptoms present and the severity in each person. Therefore, treatment options must be evaluated on an individual basis. Nutritional support is important to improve growth and it also enhances responsiveness to other treatment options. A calcium-deficient diet has been beneficial for some affected people.

Treatment is necessary for the infantile form:

- Vitamin D (calcitriol) appears to stimulate dormant osteoclasts, which stimulates bone resorption

- Gamma interferon can have long-term benefits. It improves white blood cell function (leading to fewer infections), decreases bone volume, and increases bone marrow volume.

- Erythropoietin can be used for anemia, and corticosteroids can be used for anemia and to stimulate bone resorption.

Bone marrow transplantation (BMT) improves some cases of severe, infantile osteopetrosis associated with bone marrow failure, and offers the best chance of longer-term survival for individuals with this type.

In pediatric (childhood) osteopetrosis, surgery is sometimes needed because of fractures. Adult osteopetrosis typically does not require treatment, but complications of the condition may require intervention. Surgery may be needed for aesthetic or functional reasons (such as multiple fractures, deformity, and loss of function), or for severe degenerative joint disease.

The long-term-outlook for people with osteopetrosis depends on the subtype and the severity of the condition in each person.The severe infantile forms of osteopetrosis are associated with shortened life expectancy, with most untreated children not surviving past their first decade. seems to have cured some infants with early-onset disease. However, the long-term prognosis after transplantation is unknown. For those with onset in childhood or adolescence, the effect of the condition depends on the specific symptoms (including how fragile the bones are and how much pain is present). Life expectancy in the adult-onset forms is normal.

The first clinical manifestation of Paget's disease is usually an elevated alkaline phosphatase in the blood.

Paget's disease may be diagnosed using one or more of the following tests:

- Pagetic bone has a characteristic appearance on X-rays. A skeletal survey is therefore indicated.

- An elevated level of alkaline phosphatase in the blood in combination with normal calcium, phosphate, and aminotransferase levels in an elderly patient are suggestive of Paget's disease.

- Markers of bone turnover in urine "eg". Pyridinoline

- Elevated levels of serum and urinary hydroxyproline are also found.

- Bone scans are useful in determining the extent and activity of the condition. If a bone scan suggests Paget's disease, the affected bone(s) should be X-rayed to confirm the diagnosis.

Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course. Intravenous bisphosphonates may be helpful for treatment of bone pain, but there is no clear evidence that they strengthen bone lesions or prevent fractures. Surgical techniques that are effective in other disorders, such as bone grafting, curettage, and plates and screws, are frequently ineffective in fibrous dysplasia and should be avoided. Intramedullary rods are generally preferred for management of fractures and deformity in the lower extremities. Progressive scoliosis can generally be managed with standard instrumentation and fusion techniques. Surgical management in the craniofacial skeleton is complicated by frequent post-operative FD regrowth, and should focus on correction of functional deformities. Prophylactic optic nerve decompression increases the risk of vision loss and is contraindicated.

Managing endocrinopathies is a critical component of management in FD. All patients with fibrous dysplasia should be evaluated and treated for endocrine diseases associated with McCune–Albright syndrome. In particular untreated growth hormone excess may worsen craniofacial fibrous dysplasia and increase the risk of blindness. Untreated hypophosphatemia increases bone pain and risk of fractures.

It is phenotypically difficult to diagnose between TDO and Amelogenesis imperfecta of the hypomaturation-hypoplasia type with taurodontism (AIHHT) as they are very closely linked phenotypically during adulthood, and the only distinguishing characteristic is found during genetic analysis by Polymerase Chain Reaction (PCR) amplification. This type of test in diagnosis of TDO is only used during research or if there is a concern of genetic issue to a particular individual whose family member has been diagnosed with TDO.

Although initially diagnosed by a primary care physician, endocrinologists (internal medicine physicians who specialize in hormonal and metabolic disorders), rheumatologists (internal medicine physicians who specialize in joint and muscle disorders), orthopedic surgeons, neurosurgeons, neurologists, oral and maxillofacial surgeons, podiatrists, and otolaryngologists are generally knowledgeable about treating Paget's disease, and may be called upon to evaluate specialized symptoms. It can sometimes difficult to predict whether a person with Paget's disease, who otherwise has no signs or symptoms of the disorder, will develop symptoms or complications (such as a bone fracture) in the future.

The precise frequency of pycnodysostosis has not been determined. Pycnodysostosis can be classified in the large group of genetic diseases that are individually uncommon, but collectively important because of the sum of their numbers, and their heavy impact upon affected individuals.

TDO is a genetic based disorder it is diagnosed based on radiographic imaging, physical characteristics of the disease, and genetic testing if necessary. PCR amplification is used to check for normal and deletion allele, found in the 141 base pair allele. A four base pair deletion in exon 3 is also noted in patients with TDO; deletion in two transcription factor genes DLX-3 and DLX-7 gene (distal-less gene) that occurs by a frameshift mutation, makes this gene shorter than its normal length and non-functional. Radiographs such as cephalometric analysis or panoramic radiograph are used to detect skeletal abnormalities in TDO cases; these radiographs along with the phenotypic effects of the disease are often enough evidence for proper diagnosis. In TDO, radiologic imaging almost always shows evidence of hardening of bone tissue (sclerosis), lesions on the bone structures surrounding the teeth due to decay or trauma, or hard tissue mass. The radiographic testing is non-invasive, and involves the patient to be able to sit or stand in front of the radiographic device with their mouth closed and lips relaxed for approximately one minute. Oral abnormalities are diagnosed by a visual dental examination. A normal oral evaluation would show no signs of broken or fractured teeth, attrition of tooth enamel, no spacing between teeth, no soft tissue mass or sign of dental abscess, and a bite relationship where the mandibular (bottom) teeth interdigitate within a normal plane of 1-2mm behind and underneath the maxillary (top) teeth.

Pycnodysostosis (from Greek: πυκνός (puknos) meaning "dense", "dys" ("defective"), and "ostosis" ("condition of the bone")), is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K.

In 1983 Heffez and colleagues published a case report in which they suggested eight criteria for a definitive diagnosis of Gorham's disease:

- Positive biopsy with the presence of angiomatous tissue

- Absence of cellular atypia

- Minimal or no osteoblastic response or dystrophic calcifications

- Evidence of local bone progressive osseous resorption

- Non-expansile, non-ulcerative lesions

- No involvement of viscera

- Osteolytic radiographic pattern

- Negative hereditary, metabolic, neoplastic, immunologic, or infectious etiology.

In the early stages of the disease x-rays reveal changes resembling patchy osteoporosis. As the disease progresses bone deformity occurs with further loss of bone mass and, in the tubular bones (the long bones of the arms and legs), a concentric shrinkage is often seen which has been described as having a "sucked candy" appearance. Once the cortex (the outer shell) of the bone has been disrupted, vascular channels may invade adjacent soft tissues and joints. Eventually, complete or near-complete resorption of the bone occurs and may extend to adjacent bones, though spontaneous arrest of bone loss has been reported on occasion. Throughout this process, as the bone is destroyed it is replaced by angiomatous and/or fibrous tissue.

Often Gorham's disease is not recognized until a fracture occurs, with subsequent improper bone healing. The diagnosis essentially is one of exclusion and must be based on combined clinical, radiological, and histopathological findings. X-rays, CT scans, MRIs, ultrasounds, and nuclear medicine (bone scans) are all important tools in the diagnostic workup and surgical planning, but none have the ability alone to produce a definitive diagnosis. Surgical biopsy with histological identification of the vascular or lymphatic proliferation within a generous section of the affected bone is an essential component in the diagnostic process.

Recognition of the disease requires a high index of suspicion and an extensive workup. Because of its serious morbidity, Gorham's must always be considered in the differential diagnosis of osteolytic lesions.

In the early stages, bone scintigraphy and MRI are the preferred diagnostic tools.

X-ray images of avascular necrosis in the early stages usually appear normal. In later stages it appears relatively more radio-opaque due to the nearby living bone becoming resorbed secondary to reactive hyperemia. The necrotic bone itself does not show increased radiographic opacity, as dead bone cannot undergo bone resorption which is carried out by living osteoclasts. Late radiographic signs also include a radiolucency area following the collapse of subchondral bone (crescent sign) and ringed regions of radiodensity resulting from saponification and calcification of marrow fat following medullary infarcts.

A variety of methods may be used to treat the most common being the total hip replacement (THR). However, THRs have a number of downsides including long recovery times and short life spans (of the hip joints). THRs are an effective means of treatment in the older population; however, in younger people they may wear out before the end of a person's life.

Other technicques such as metal on metal resurfacing may not be suitable in all cases of avascular necrosis; its suitability depends on how much damage has occurred to the femoral head. Bisphosphonates which reduces the rate of bone breakdown may prevent collapse (specifically of the hip) due to AVN.

As of now, there are no established treatments for skeletal fluorosis patients. However, it is reversible in some cases, depending on the progression of the disease. If fluorine intake is stopped, the fluorine existing in bone structures will deplete and be excreted via urine. However, it is a very slow process to eliminate the fluorine from the body completely. Minimal results are seen in patients.

Treatment of side effects is also very difficult. For example, a patient with a bone fracture cannot be treated according to standard procedures, because the bone is very brittle. In this case, recovery will take a very long time and a pristine healing cannot be guaranteed.

Treatment of Gorham's disease is for the most part palliative and limited to symptom management.

Sometimes the bone destruction spontaneously ceases and no treatment is required. But when the disease is progressive, aggressive intervention may be necessary. Duffy and colleagues reported that around 17% of patients with Gorham's disease in the ribs, shoulder, or upper spine experience extension of the disease into the chest, leading to chylothorax with its serious consequences, and that the mortality rate in this group can reach as high as 64% without surgical intervention.

A search of the medical literature reveals multiple case reports of interventions with varying rates of success as follows:

Cardiothoracic (heart & lung):

- Pleurodesis

- Ligation of thoracic duct

- Pleurperitoneal shunt

- Radiation therapy

- Pleurectomy

- Surgical resection

- Thalidomide

- Interferon alpha-2b

- TPN (total parenteral nutrition)

- Thoracentesis

- Diet rich in medium-chain triglycerides and protein

- Chemotherapy

- Sclerotherapy

- Transplantation

Skeletal:

- Interferon alpha-2b

- Bisphosphonate (e.g. pamidronate)

- Surgical resection

- Radiation therapy

- Sclerotherapy

- Percutaneous bone cement

- Bone graft

- Prosthesis

- Surgical stabilization

- Amputation

To date, there are no known interventions that are consistently effective for Gorham's and all reported interventions are considered experimental treatments, though many are routine for other conditions. Some patients may require a combination of these approaches. Unfortunately, some patients will not respond to any intervention.

Rickets may be diagnosed with the help of:

- Blood tests:

- Serum calcium may show low levels of calcium, serum phosphorus may be low, and serum alkaline phosphatase may be high from bones or changes in the shape or structure of the bones. This can show enlarged limbs and joints.

- A bone density scan may be undertaken.

- Radiography typically show widening of the zones of provisional calcification of the metaphyses secondary to unmineralized osteoid. Cupping, fraying, and splaying of metaphyses typically appears with growth and continued weight bearing. These changes are seen predominantly at sites of rapid growth, including the proximal humerus, distal radius, distal femur and both the proximal and the distal tibia. Therefore, a skeletal survey for rickets can be accomplished with anteroposterior radiographs of the knees, wrists, and ankles.

A bone fracture may be diagnosed based on the history given and the physical examination performed. Radiographic imaging often is performed to confirm the diagnosis. Under certain circumstances, radiographic examination of the nearby joints is indicated in order to exclude dislocations and fracture-dislocations. In situations where projectional radiography alone is insufficient, Computed Tomography (CT) or Magnetic Resonance Imaging (MRI) may be indicated.

The most common treatment of rickets is the use of vitamin D. However, surgery may be required to remove severe bone abnormalities.

The prognosis for a horse with navicular syndrome is guarded. Many times the horse does not return to its former level of competition. Others are retired. Eventually all horses with the syndrome will need to lessen the strenuousness of their work, but with proper management, a horse with navicular syndrome can remain useful for some time.

Recovery from renal osteodystrophy has been observed following kidney transplantation. Renal osteodystrophy is a chronic condition with a conventional hemodialysis schedule. Nevertheless, it is important to consider that the broader concept of CKD-MBD, which includes renal osteodystrophy, is not only associated with bone disease and increased risk of fractures but also with cardiovascular calcification, poor quality of life and increased morbidity and mortality in CKD patients (the so-called bone-vascular axis). Actually, bone may now be considered a new endocrine organ at the heart of CKD-MBD.

Typically, radiographs are taken of the hip from the front (AP view), and side (lateral view). Frog leg views are to be avoided, as they may cause severe pain and further displace the fracture. In situations where a hip fracture is suspected but not obvious on x-ray, an MRI is the next test of choice. If an MRI is not available or the patient can not be placed into the scanner a CT may be used as a substitute. MRI sensitivity for radiographically occult fracture is greater than CT. Bone scan is another useful alternative however substantial drawbacks include decreased sensitivity, early false negative results, and decreased conspicuity of findings due to age related metabolic changes in the elderly.

As the patients most often require an operation, full pre-operative general investigation is required. This would normally include blood tests, ECG and chest x-ray.

X-rays of the affected hip usually make the diagnosis obvious; AP (anteroposterior) and lateral views should be obtained.

Trochanteric fractures are subdivided into either intertrochanteric (between the greater and lesser trochanter) or pertrochanteric (through the trochanters) by the Müller AO Classification of fractures. Practically, the difference between these types is minor. The terms are often used synonymously. An "isolated trochanteric fracture" involves one of the trochanters without going through the anatomical axis of the femur, and may occur in young individuals due to forceful muscle contraction. Yet, an "isolated trochanteric fracture" may not be regarded as a true hip fracture because it is not cross-sectional.

Though the children affected with CLSD will have problems throughout life, the treatment for this disease thus far is symptomatic. However, prognosis is good; at the time of the most recently published articles, identified children were still alive at over 4 years of age.

Mutant proteins still maintain some residual activity, allowing for the release of some collagen, but still form an extremely distended endoplasmic reticulum.