What diseases do we treat here?

At the Genetics Unit, we treat metabolic bone diseases of children and adolescents. Examples of such diseases are:

Osteogenesis Imperfecta (OI)

  • Osteogenesis imperfecta is also called brittle bone disease. The bones are weaker than normal, because there is some abnormality in the genes. Sometimes the bones can break even without a big accident.

Skeletal Dysplasia

  • A large number of bone diseases are called skeletal dysplasia. These diseases are very different among each other. However, they have in common that they are caused by a genetic abnormality that interferes with bone growth or development.

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Fibrous Dysplasia

  • Fibrous dysplasia is a disease where some bones have patches of soft tissue that replaces the regular hard bone tissue. These bones may become weak and can break.

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  • Rickets is a disease where the skeleton does not have enough hard mineral. The bones are softer than normal and may bow. This can be caused by a lack of vitamin D or by a genetic abnormality.

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  • Osteoporosis is a lack of bone tissue. The bones break more easily than normal. This disease is very frequent in older people, but can already occur in children and adolescents.

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  • Osteopetrosis is just the opposite of osteoporosis. There is too much bone tissue. Unfortunately, this does not make the bones stronger, because they have an abnormal structure. Therefore fractures can occur, even if the bones look very solid on X-rays.

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