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Mesomelic dysplasia, Nievergelt type

Disease definition

A rare primary bone dysplasia characterized by severe mesomelic shortness particularly of the lower limbs with distinctive triangular or rhomboid-shaped tibiae and fibulae, accompanied by bony protuberances and skin dimples. Additional manifestations include radioulnar synostosis, dislocation of the radial head, abnormalities of the hands (such as oligosyndactyly or fusiform-shaped fingers) and feet (pes equinovarus, synostoses of tarsals/metatarsals and phalanges), and dysmorphic facial features.

ORPHA:2633

Classification level: Disorder
  • Synonym(s):
    • Mesomelic dwarfism, Nievergelt type
    • Nievergelt syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q78.8
  • OMIM: 163400
  • UMLS: C0432231
  • MeSH: -
  • GARD: 3554
  • MedDRA: -
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