Supplementary Material for: A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

The overgrowth syndromes are important to diagnose, not just for
accurate genetic counseling, but also for knowledge surrounding cancer
surveillance and prognosis. There has been a recent expansion in the
number of genes associated with a mendelian overgrowth phenotype, so
this review updates previous classifications of overgrowth syndromes. We
also describe a clinical and molecular approach to the investigation of
individuals presenting with overgrowth. This review aims to assist the
clinical diagnosis of generalized overgrowth syndromes by outlining the
salient features of well-known overgrowth syndromes alongside the many
syndromes that have been discovered and classified more recently. We
provide key clinical “handles” to aid clinical diagnosis and a list of
genes to aid with panel design when using next generation sequencing,
which we believe is frequently needed due to the overlapping phenotypic
features seen between overgrowth syndromes.