Authors deal with the classification of chondrodysplasia punctata, in detail they analyze the clinical and radiomorphological symptoms. From the diagnostic viewpoint it is important to evaluate typical X-ray epiphyseal changes in the first year of age of the affected child. Clinical symptoms vary and they are not typical only for this disease. They are often combined with various congenital developmental anomalies. The case study presents the correlation between X-ray epiphyseal changes in the knee and the arthroscopic findings.