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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2014

Open Access 01-12-2014 | Review

Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

Authors: Dawn Mikelonis, Cheryl L Jorcyk, Ken Tawara, Julia Thom Oxford

Published in: Orphanet Journal of Rare Diseases | Issue 1/2014

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Abstract

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.
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Metadata
Title
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology
Authors
Dawn Mikelonis
Cheryl L Jorcyk
Ken Tawara
Julia Thom Oxford
Publication date
01-12-2014
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2014
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/1750-1172-9-34

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