Background: Kozlowski type spondylo-metaphyseal dysplasia is the most frequent form among spondylometaphyseal dysplasias. Case report: The first cases of such dysplasia among Gypsies - a father and two sons - have been described. Conclusions: Radiographic examination is the only means by which to diagnose Kozlowski type spondylometaphyseal dysplasia with certainty. Correct diagnosis is not only prognostic for the course of the disease and its complications, but also excludes the necessity of further, often expensive, investigations.