Polyposis syndromes are rare but significant entities that often present during childhood and adolescence. Polyposis syndromes should remain high on the differential diagnoses for any child presenting with rectal bleeding, protein-losing enteropathy or intussusception in the setting of multiple polyps in the gastrointestinal tract. There are three primary paediatric polyposis syndromes: Juvenile polyposis syndrome (JPS), Familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome (PJS). This review will cover recent guidelines for these conditions and advances in genetic testing.

中文翻译：

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小儿息肉病综合征：疾病负担和当前概念。

息肉病综合征是罕见但重要的疾病，通常出现在儿童期和青春期。对于任何因胃肠道多发性息肉而出现直肠出血、蛋白质丢失性肠病或肠套叠的儿童，息肉病综合征仍应成为鉴别诊断的重点。小儿息肉病综合征主要有三种：幼年性息肉病综合征（JPS）、家族性腺瘤性息肉病（FAP）和黑息肉综合征（PJS）。本综述将涵盖这些疾病的最新指南以及基因检测的进展。