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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.

ORPHA:2634

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
  • ICD-11: LD24.A
  • OMIM: 191400
  • UMLS: C1860616
  • MeSH: C537349
  • GARD: 3555
  • MedDRA: -

Summary

Epidemiology

Prevalence is unknown but only a few families have been described in the literature so far.

Clinical description

Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described.

Etiology

The syndrome is transmitted in an autosomal dominant manner and cases of this dysplasia have been described in families with Langer mesomelic dwarfism and Léri-Weill dyschondrosteosis (see these terms) leading to the suggestion that this dysplasia, type Reinhardt-Pfeiffer may also be associated with haploinsufficiency of the short stature homeobox (SHOX; Xp22.33 and Yp11.32) gene or anomalies of the downstream pseudoautosomal region 1 (PAR1) where SHOX enhancer elements are located.

Expert reviewer(s):  Dr Martine LE MERRER - Last update: October 2009

  A summary on this disease is available in Deutsch (2009) Español (2009) Français (2009) Italiano (2009) Nederlands (2009) Português (2009)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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