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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
  • ICD-11: LD24.A
  • OMIM: 163400
  • UMLS: C0432231
  • MeSH: C536120
  • GARD: 3554
  • MedDRA: -

  A summary on this disease is available in Deutsch (2021) Español (2021) Français (2021) Nederlands (2021)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.