EEC consists of limb malformations, ectodermal dysplasia, and cleft lip and palate (in ~40% of patients; isolated cleft lip or palate is rare). The disorder shows variable expressivity and reduced penetrance. The ectodermal dysplasia in EEC is characterized by hypohidrosis, hypotrichosis, and anodontia. The limb anomalies include ectrodactyly (in 2/3 of patients), split-hand/split-foot, or polysyndactyly. Associated findings may include lacrimal-duct abnormalities, urinary tract anomalies, dysmorphic facies, and developmental delay.