Nevoid basal cell carcinoma syndrome (NBCCS) is characterised by skeletal anomalies, cutaneous basal cell carcinomas and multiple keratocysts. NBCCS is an autosomal dominant disorder, but can have a variable phenotypic penetration. NBCCS can also arise spontaneously. The prevalence is 1:60.000 and 50-65% of patients with NBCCS have affected family members. A recently diagnosed patient is presented and the manifestations of the syndrome are discussed.