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

Orphanet J Rare Dis. 2014 Mar 12:9:34. doi: 10.1186/1750-1172-9-34.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cytokines / physiology*
  • Exostoses, Multiple Hereditary / etiology
  • Exostoses, Multiple Hereditary / genetics
  • Exostoses, Multiple Hereditary / physiopathology*
  • Humans
  • Infant, Newborn
  • Leukemia Inhibitory Factor Receptor alpha Subunit / metabolism
  • Leukemia Inhibitory Factor Receptor alpha Subunit / physiology*
  • Mutation
  • Osteochondrodysplasias / etiology
  • Osteochondrodysplasias / genetics
  • Osteochondrodysplasias / physiopathology*
  • Signal Transduction


  • Cytokines
  • LIFR protein, human
  • Leukemia Inhibitory Factor Receptor alpha Subunit

Supplementary concepts

  • Stuve-Wiedemann syndrome