Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome.

The article presents a case study of a 35-year-old man initially diagnosed with Silver-Russell syndrome (SRS), with a de novo reciprocal chromosomal translocation. It states that he developed neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome (NEDDFL) due to disruption of Bromodomain plant homeodomain (PHD) finger transcription factor (BPTF) gene. The study proposes BPTF testing to be considered in SRS diagnosis, as it describes NEDDFL phenotype in adults.