Stüve-Wiedemann syndrome (STWS; OMIM #610559) is a rare bent-bone dysplasia that includes radiologic bone anomalies, respiratory distress, feeding difficulties, and hyperthermic episodes. STWS usually results in infant mortality, yet some STWS patients survive into and, in some cases, beyond adolescence. STWS is caused by a mutation in the leukemia inhibitory factor receptor (LIFR) gene, which is inherited in an autosomally recessive pattern. Most LIFR mutations resulting in STWS are null mutations which cause instability of the mRNA and prevent the formation of LIFR, impairing the signaling pathway. LIFR signaling usually follows the JAK/STAT3 pathway, and is initiated by several interleukin-6-type cytokines. STWS is managed on a symptomatic basis since there is no treatment currently available.
This document was originally published by BioMed Central Ltd. in Orphanet Journal of Rare Diseases. This work is provided under a Creative Commons Attribution License 2.0. Details regarding the use of this work can be found at: http://creativecommons.org/licenses/by/2.0/. doi: 10.1186/1750-1172-9-34
Mikelonis, Dawn; Jorcyk, Cheryl L.; Tawara, Ken; and Oxford, Julia Thom. (2014). "Stüve-Wiedemann Syndrome: LIFR and Associated Cytokines in Clinical Course and Etiology". Orphanet Journal of Rare Diseases, 91-11.