The aim of this work is to diagnose and classify the cases of limb reduction defects referred to Limb Malformation Clinic at the National Research Centre. The study included 22 cases with limb reduction defects. They were subjected to complete analysis of their three generations pedigree, examination of limbs and different body systems, anthropometry, skeletal survey and some investigations as karyotyping,echocardiography, pelviabdominal sonar and others as indicated. The main findings of this study are the increased incidence of limb reduction defects among the Egyptian population and the high percentage of consanguineous marriages among the studied cases