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Stüve-Wiedemann syndrome

Disease definition

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

ORPHA:3206

  • Synonym(s):
    • Neonatal Schwartz-Jampel syndrome
    • SJS2
    • Schwartz-Jampel syndrome type 2
    • Stüve-Wiedemann dysplasia
    • Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q78.8
  • OMIM: 601559
  • UMLS: C0432240  C0796176
  • MeSH: C537502
  • GARD: 5045
  • MedDRA: -

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