Metabolic bone disease affects your body’s ability to use minerals like calcium and phosphate to build bone. Most types of metabolic bone disease are rare and inherited. They cause weak or soft bones that easily bend or break. Children and adults are at risk for metabolic bone disease. 

Types of metabolic bone disease include: 

• Achondroplasia (dwarfism): Impaired bone growth causes short limbs and stature. 
• Hypophosphatasia (HPP): Soft bones and teeth are prone to stress fractures and early tooth loss. 
• Hypophosphatemic rickets, rickets and osteomalacia: Soft bones bend, bow and break easily. 
• McCune-Albright syndrome (fibrous dysplasia): Scar-like tissue replaces healthy bone. 
• Osteoporosis: Low bone density leads to fractures. 
• Osteogenesis imperfecta: Brittle bones break easily.  
• Paget’s disease: Excess bone formation causes large, misshapen, fragile bones. 

Symptoms vary depending on the type of metabolic bone disease.  

Common Symptoms 

Metabolic bone disease may cause: 

• Bone and joint pain
• Bowed legs or knock knees
• Curved spine (scoliosis or kyphosis)
• Difficulty walking or decreased mobility
• Frequent broken bones and stress fractures
• Short stature and limbs
• Unusually shaped head

Common causes of metabolic bone disease include:

There are several factors that can lead to metabolic bone disease, including:

To diagnose metabolic bone disease, our physicians perform a physical exam and review your medical history.

These diagnostic tests are also important:

• Blood and urine tests, to check for nutritional deficiencies or excesses.
• Gene test (a blood test), to check for disease-causing gene changes.
• Bone density test using dual energy X-ray absorptiometry (DEXA) technology, to check for low bone density.
• X-rays to look for fractures and bone changes.
• Imaging tests, such as CT scans and MRIs, to look for bone, gland and organ problems.
• Bone biopsy, to remove a small sample of bone tissue and look for signs of bone disease. Physicians tend to use blood and imaging tests more than biopsies to diagnose metabolic bone disease.

Treatments for metabolic bone disease depend on the type. Many metabolic bone diseases require a specialized team approach. At UC Davis Health, you have access to all the experts you need.

In addition to orthopaedic specialists, your care team may include:

• Endocrinologists (hormone specialists)
• Nephrologists (specialists in kidney disease)
• Neurologists and neurosurgeons (nerve and spine specialists)
• Orthopaedic surgeons and pediatric orthopaedists (bone specialists)
• Rheumatologists (joint and musculoskeletal specialists)
• Physical therapists 
• Registered dietitians

Our experts work together to provide the latest metabolic bone disease treatments. 

These steps can lower your chances of developing certain types of metabolic bone disease.

• Be physically active in high-impact exercises during childhood and the teen years to build strong bones.
• Get enough calcium, vitamin D, and phosphorus in your diet.
• Safely get sun exposure to help your body make vitamin D.
• Take vitamin D and calcium supplements, as recommended by your physician.