juvenile polyposis syndrome is a rare autosomal dominant syndrome characterized by multiple distinct juvenile polyps in the gastrointestinal tract and an increased risk of colorectal cancer the cumulative life time risk of colorectal cancer is 39 and the relative risk is 34 juvenile polyps have a distinctive histology characterized by an abundance of edematous lamina propria with inflammatory cells and cystically dilated glands lined by cuboidal to columnar epithelium with reactive changes clinically juvenile polyposis syndrome is defined by the presence of 5 or more juvenile polyps in the colorectum juvenile polyps throughout the gastrointestinal tract or any number of juvenile polyps and a positive family history of juvenile polyposis in about 50 60 of patients diagnosed with juvenile polyposis syndrome a germline mutation in the smad4 or bmpr1a gene is found both genes play a role in the bmp tgf beta signalling pathway it has been suggested that cancer in juvenile polyposis may develop through the so called landscaper mechanism where an abnormal stromal environment leads to neoplastic transformation of the adjacent epithelium and in the end invasive carcinoma recognition of this rare disorder is important for patients and their families with regard to treatment follow up and screening of at risk individuals each clinician confronted with the diagnosis of a juvenile polyp should therefore consider the possibility of juvenile polyposis syndrome in addition juvenile polyposis syndrome provides a unique model to study colorectal cancer pathogenesis in general and gives insight in the molecular genetic basis of cancer this review discusses clinical manifestations genetics pathogenesis and management of juvenile polyposis syndrome.