The chondrodysplasias are an extremely diverse and complex group of rare genetic disorders, which affect the development of the skeleton. There are over 200 unique and well-characterised phenotypes, which range in severity from relatively mild to severe and lethal forms. They have an overall prevalence of at least 4 per 10,000 and this extrapolates to a minimum of 178,000 people in the 25 member states that suffer from chondrodysplasia.
Many of the individual skeletal dysplasia phenotypes have been grouped into 'bone dysplasia families' on the basis of similar clinical and radiographic features and it has been proposed that members of the same family will share a common disease pathophysiology. Therefore, as a group of heterogeneous diseases, the chondrodysplasias have a complex aetiology but are likely to share similar basic mechanisms of disease initiation, progression and end-stage pathology.
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