ABSTRACT
Weaver syndrome is a congenital overgrowth disorder that often displays tall stature, dysmorphic facial features (hypertelorism, broad forehead, almond-shaped eyes, pointed chin with horizontal crease, large and fleshy ears), accelerated skeletal maturation, limb anomalies, variable cognitive disability and a predisposition for tumors. Germline EZH2 mutations are primarily responsible for Weaver syndrome, although somatic EZH2 mutations, both activating and inactivating, are found in solid tumors as well as hematologic malignancies. As Weaver syndrome tends to produce mild, or subtle phenotype, it possibly has not attracted sufficient attention from practicing clinicians. Additionally, the relative recent identification of EZH2 in 2011 has meant that molecular genetic tests for Weaver syndrome have not been widely adopted. To date, Weaver syndrome remains a poorly understood disease, with only 54 genetically confirmed cases described. Further investigation is necessary to determine the true prevalence of and to develop more effective treatment option for Weaver syndrome.
