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Weismann-Netter syndrome

Disease definition

Weismann-Netter syndrome is a rare, genetic, primary, bent bone dysplasia characterized by anterior diaphyseal bowing of the tibia and fibula, broadening of the fibula, posterior cortical thickening of both bones and short stature. Additional skeletal abnormalities include scoliosis with marked lumbar lordosis, horizontal sacrum and square iliac wings and/or, less frequently, vertebral malformations, abnormal shape of the clavicles and ribs, calvarial hyperostosis and delayed eruption of permanent teeth. Delayed ambulation is also frequently associated.

ORPHA:3344

  • Synonym(s):
    • Anterior bowing of legs with dwarfism
    • WNS
    • Weismann-Netter-Stuhl syndrome
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q77.8
  • OMIM: 112350
  • UMLS: C1862172
  • MeSH: C537082
  • GARD: 5232
  • MedDRA: -

Additional information

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