Whole exome sequencing revealed a homozygous mutation in the leukemia inhibitory factor receptor (<i>LIFR</i>) gene, consistent with Stüve-Wiedemann syndrome.<h4>Discussion/conclusion</h4>The case underscores the importance of considering and prompting evaluation of rare genetic causes in the differential diagnosis of PPHN, especially when other abnormalities are present and conventional therapies prove inadequate. Here, LIFR is linked to Stüve-Wiedemann syndrome 1.