Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome

Background Börjeson‐Forssman‐Lehmann syndrome (BFLs) is an X‐linked inherited disorder characterised by unusual facial features, abnormal fat distribution and intellectual disability. As many genetically determined disorders are characterised not only by physical features but also by specific behaviour, we studied whether a specific behavioural phenotype exists in BFLs. Methods We studied in detail the behaviour of four molecularly proven BFLs patients, and reviewed available literature on BFLs specifically for behavioural characteristics. Results Behaviour in persons with BFLs is in general friendly, but can be challenging with externalising and thrill‐seeking features. Social skills are good. However, variation among patients is wide. Three patients from a single family showed expressed hypersexual behaviour. This was not present in other patients. Conclusion In BFLs a specific behavioural phenotype exists and in behaviour general is challenging besides a friendly habit. Within single families more problematic behaviour may occur. Further behavioural and molecular analysis of a larger group of patients is warranted to determine whether a genotype‐behavioural phenotype correlation exists.