Biallelic LoF mutations in LIFR cause Stüve-Wiedemann syndrome (OMIM #601559), characterized by neonatal skeletal dysplasia, feeding difficulties, respiratory distress, and hyperthermia; extended Stüve-Wiedemann syndrome (OMIM #619751) is caused by biallelic deleterious variants in the gene encoding gp130, showing that gp130 deficiency is mostly due to LIFR signaling deficiency. This evidence concerns the gene LIFR and Stüve-Wiedemann syndrome 1.