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Table 2 Stüve-Wiedemann syndrome (STWS) with the corresponding molecular etiology

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

STWS phenotype Cytokine Reference
Smooth tongue LIF, CNTF [7, 77]
Osteopenia LIF, OSM, CT-1 [58, 68, 89, 99]
Cardiovascular malfunctions LIF, CT-1 [79–81, 94, 99]
Paradoxical sweating CLCF1/CRLF1 [9, 13, 106]
Dysphagia CT-1?, OSM?, CLCF1/CRLF1? [20, 70, 107, 108]
Respiratory distress CT-1?, OSM? [82]
Short stature CNTF [58, 70, 89, 100]
  1. Each of the cytokines signal through the leukemia inhibitory factor receptor (LIFR). In STWS, the LIFR gene is mutated, and due to the mutation, cytokine signaling is blocked, and the corresponding manifestations of STWS occur. Only symptoms for which the mechanism has been explored are listed. Those followed by a question mark are still under considerable speculation. LIF: leukemia inhibitory factor; CNTF: ciliary neurotrophic factor; OSM: oncostatin-M; CT-1: cardiotrophin-1; CLCF1: cardiotrophin-like cytokine factor-1; CRLF1: cytokine receptor-like factor-1.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172