Novel LIFR Variant Identified in Stuve-Wiedemann Syndrome - Takeaways - MDSpire

Novel LIFR Variant Identified in Stuve-Wiedemann Syndrome

Case report highlights the role of early genetic confirmation in severe skeletal dysplasia

  • By

  • Henry Thomas

  • February 10, 2026

  • 2 min

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  • 1

    A novel homozygous nonsense variant in the LIFR gene was identified in a 5-month-old with Stüve-Wiedemann syndrome.

  • 2

    Stüve-Wiedemann syndrome is characterized by bowed long bones, joint contractures, and severe dysautonomia.

  • 3

    The infant exhibited prenatal and postnatal symptoms, including intrauterine growth restriction and feeding difficulties.

  • 4

    Dysautonomia significantly contributes to early mortality, with a global mortality rate of 46% in affected individuals.

  • 5

    Molecular confirmation aids in differentiating Stüve-Wiedemann syndrome from other skeletal dysplasias and related conditions.

Original Source(s)

Novel LIFR Variant Identified in Stuve-Wiedemann Syndrome

  • by Henry Thomas

  • February 10, 2026

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