The metabolic bone diseases are a eclectic group of disorders in which there is a disturbance in homeostasis of the skeleton. There are commonly changes in circulating calcium, phosphate and vitamin D derivatives.
Unfortunately there does not appear to be a strict definition of what comprises a metabolic bone disease. When rare genetic entities are included, there results a very long list of conditions under this somewhat woolly umbrella term 1,2.
Rare or very rare genetic conditions that some references include as metabolic bone conditions 2,3:
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autosomal dominant
familial hypocalciuric hypercalcemia: types 1–3
autosomal dominant hypocalcemia: types 1, 2
familial expansile osteolysis
vitamin D‐dependent rickets: type 3
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autosomal recessive
neonatal severe hyperparathyroidism
vitamin D‐dependent rickets: types 1, 2
autosomal recessive hypophosphatemic rickets
hereditary hypophosphatemic rickets with hypercalciuria
sclerosteosis: type 1, 2
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X‐linked dominant
X-linked osteopetrosis
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X‐linked recessive
X‐linked osteoporosis
Dent disease: type 1
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mosaicism
McCune‐Albright syndrome (polyostotic fibrous dysplasia)
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miscellaneous: poorly defined genetics 3
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