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Mesomelic dwarfism, Reinhardt-Pfeiffer type

Disease definition

A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.


Classification level: Disorder
  • Synonym(s):
    • Reinhardt-Pfeiffer mesomelic dysplasia
    • Reinhardt-Pfeiffer syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q78.8
  • OMIM: 191400
  • UMLS: C1860616
  • MeSH: C537349
  • GARD: 3555
  • MedDRA: -
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