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Abstract Background: Down syndrome (DS),also known as trisomy 21, is agenetic disorder caused by the presence of all, or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, congenital heart defect, sleep disorders and mild to moderate intellectual disability. Objectives: The aim of this study was to investigate the prevalence of differentcongenital heart defects, abnormal abdominal and cranial ultrasonographic findings, abnormal chest, spine or hip radiological findings,polysomnogram if needed, abnormal laboratory findings among 100 Egyptian Down syndrome children and to detect any correctable diseases to treat or to refer to surgical intervention if needed. Methods: A structured questionnaire was used to collect data of the child(age, sex, age of genetic diagnosis, ranking, residence, whether prenatally diagnosed)and his/her family(age of the mother, age of the father, consanguinity, other siblings with Down syndrome), complete physical examination was done, also investigated with Echocardiography, abdominal and cranial-if feasible-ultrasound, chest, spine and hip X rays, polysomnography if needed, random blood sugar, complete blood picture and urine analysis |