Novel LIFR Variant Identified in Stuve-Wiedemann Syndrome
Case report highlights the role of early genetic confirmation in severe skeletal dysplasia
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By
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Henry Thomas
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February 10, 2026
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A novel homozygous nonsense variant in the LIFR gene was identified in a 5-month-old with Stüve-Wiedemann syndrome.
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Stüve-Wiedemann syndrome is characterized by bowed long bones, joint contractures, and severe dysautonomia.
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The infant exhibited prenatal and postnatal symptoms, including intrauterine growth restriction and feeding difficulties.
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Dysautonomia significantly contributes to early mortality, with a global mortality rate of 46% in affected individuals.
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Molecular confirmation aids in differentiating Stüve-Wiedemann syndrome from other skeletal dysplasias and related conditions.
