Syndromes with overgrowth as the cardinal symptom

Syndromic conditions with overgrowth as the cardinal clinical sign are a relevant problem in human genetics and pediatrics. Overgrowth is defined as a length/height of more than two standard deviations above the mean, i.e. a body length above the 97th centile. Overgrowth syndromes relevant in the clinical daily routine of the geneticist or pediatrician are described here: Marfan, Beck-with-Wiedemann, Sotos, Weaver, Simpson-Golabi-Behmel and Proteus syndromes. The characteristic clinical signs, diagnostic criteria, molecular bases, modes of inheritance, prevention programs-where necessary-as well as differential diagnoses are presented here.