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A woman was isozygous for a novel mutation in the leukemia inhibitory factor receptor gene (  LIFR  ) (c.2170C>G; p.Pro724Ala) which disrupts  LIFR  downstream signaling and results in Stüve‐Wiedemann syndrome (STWS). She inherited two identical chromosomes 5 from her mother, heterozygous for the   LIFR   mutation. The presentation was typical for STWS, except there was no long bone dysplasia. Prominent cold‐induced sweating and heat intolerance lead to an initial diagnosis of cold‐induced sweating syndrome, excluded by exome sequencing. Skin biopsies provide the first human evidence of failed postnatal cholinergic differentiation of sympathetic neurons innervating sweat glands in cold‐induced sweating, and of a neuropathy.

Unusual Stüve‐Wiedemann syndrome with complete maternal chromosome 5 isodisomy