Borjeson-Forssman-Lehmann syndrome (BFLS) is an X- linked, possibly incompletely recessive, genetic disorder characterized by numerous dysmorphic anomalies, obesity, hypogonadism, epilepsy, and mental retardation. The full expression in males results in more severe symptoms, whereas penetrance in carrier females appears to be associated with variable X-chromosome inactivation. In heterozygous women, the phenotypic effects vary widely between apparent normality to mild or moderately evident BFLS manifestations.